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- [21] Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1European Journal of Human Genetics, 2021, 29 : 411 - 421Bart Appelhof论文数: 0 引用数: 0 h-index: 0机构: Department of Human Genetics,Institute of Neurogenomics, Helmholtz Zentrum Munich, Neuherberg, GermanyMatias Wagner论文数: 0 引用数: 0 h-index: 0机构: Department of Human Genetics,Institute of Neurogenomics, Helmholtz Zentrum Munich, Neuherberg, GermanyJulia Hoefele论文数: 0 引用数: 0 h-index: 0机构: Department of Human Genetics,Institute of Neurogenomics, Helmholtz Zentrum Munich, Neuherberg, GermanyAnja Heinze论文数: 0 引用数: 0 h-index: 0机构: Department of Human Genetics,Institute of Neurogenomics, Helmholtz Zentrum Munich, Neuherberg, GermanyTimo Roser论文数: 0 引用数: 0 h-index: 0机构: Department of Human Genetics,Institute of Neurogenomics, Helmholtz Zentrum Munich, Neuherberg, GermanyMargarete Koch-Hogrebe论文数: 0 引用数: 0 h-index: 0机构: Department of Human Genetics,Institute of Neurogenomics, Helmholtz Zentrum Munich, Neuherberg, GermanyStefan D. Roosendaal论文数: 0 引用数: 0 h-index: 0机构: Department of Human Genetics,Institute of Neurogenomics, Helmholtz Zentrum Munich, Neuherberg, GermanyMohammadreza Dehghani论文数: 0 引用数: 0 h-index: 0机构: Department of Human Genetics,Institute of Neurogenomics, Helmholtz Zentrum Munich, Neuherberg, GermanyMohammad Yahya Vahidi Mehrjardi论文数: 0 引用数: 0 h-index: 0机构: Department of Human Genetics,Institute of Neurogenomics, Helmholtz Zentrum Munich, Neuherberg, GermanyErin Torti论文数: 0 引用数: 0 h-index: 0机构: Department of Human Genetics,Institute of Neurogenomics, Helmholtz Zentrum Munich, Neuherberg, GermanyHenry Houlden论文数: 0 引用数: 0 h-index: 0机构: Department of Human Genetics,Institute of Neurogenomics, Helmholtz Zentrum Munich, Neuherberg, GermanyReza Maroofian论文数: 0 引用数: 0 h-index: 0机构: Department of Human Genetics,Institute of Neurogenomics, Helmholtz Zentrum Munich, Neuherberg, GermanyFarrah Rajabi论文数: 0 引用数: 0 h-index: 0机构: Department of Human Genetics,Institute of Neurogenomics, Helmholtz Zentrum Munich, Neuherberg, GermanyHeinrich Sticht论文数: 0 引用数: 0 h-index: 0机构: Department of Human Genetics,Institute of Neurogenomics, Helmholtz Zentrum Munich, Neuherberg, GermanyFrank Baas论文数: 0 引用数: 0 h-index: 0机构: Department of Human Genetics,Institute of Neurogenomics, Helmholtz Zentrum Munich, Neuherberg, GermanyDagmar Wieczorek论文数: 0 引用数: 0 h-index: 0机构: Department of Human Genetics,Institute of Neurogenomics, Helmholtz Zentrum Munich, Neuherberg, GermanyRami Abou Jamra论文数: 0 引用数: 0 h-index: 0机构: Department of Human Genetics,Institute of Neurogenomics, Helmholtz Zentrum Munich, Neuherberg, Germany
- [22] Expansion of the symptoms associated with bi-allelic variants in TRAPPC12EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 241 - 242Nagel, Inga论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Schleswig Holstein, Inst Human Genet, Kiel, Germany Univ Med Ctr Schleswig Holstein, Inst Human Genet, Kiel, GermanyMeyenborg, Michelle论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Schleswig Holstein, Inst Human Genet, Kiel, Germany Univ Med Ctr Schleswig Holstein, Inst Human Genet, Kiel, GermanyEckmann-Scholz, Christel论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Schleswig Holstein, Dept Obstet & Gynecol, Kiel, Germany Univ Med Ctr Schleswig Holstein, Inst Human Genet, Kiel, GermanySpielmann, Malte论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Schleswig Holstein, Inst Human Genet, Kiel, Germany Univ Med Ctr Schleswig Holstein, Inst Human Genet, Kiel, GermanyCaliebe, Almuth论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Schleswig Holstein, Inst Human Genet, Kiel, Germany Univ Med Ctr Schleswig Holstein, Inst Human Genet, Kiel, Germany
- [23] Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variantsBRAIN, 2020, 143 (08) : 2388 - 2397Neuray, Caroline论文数: 0 引用数: 0 h-index: 0机构: UCL, UCL Queen Sq Inst Neurol, London, England Paracelsus Med Univ, Dept Neurol, Christian Doppler Klin, Salzburg, Austria UCL, UCL Queen Sq Inst Neurol, London, EnglandMaroofian, Reza论文数: 0 引用数: 0 h-index: 0机构: UCL, UCL Queen Sq Inst Neurol, London, England UCL, UCL Queen Sq Inst Neurol, London, EnglandScala, Marcello论文数: 0 引用数: 0 h-index: 0机构: UCL, UCL Queen Sq Inst Neurol, London, England Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, Italy IRCCS Ist Giannina Gaslini, Genoa, Italy UCL, UCL Queen Sq Inst Neurol, London, EnglandSultan, Tipu论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Dept Pediat Neurol, Lahore, Pakistan Inst Child Hlth, Lahore, Pakistan UCL, UCL Queen Sq Inst Neurol, London, EnglandPai, Gurpur S.论文数: 0 引用数: 0 h-index: 0机构: Med Univ South Carolina, Columbia, SC USA UCL, UCL Queen Sq Inst Neurol, London, EnglandMojarrad, Majid论文数: 0 引用数: 0 h-index: 0机构: Mashhad Univ Med Sci, Dept Med Genet, Fac Med, Mashhad, Razavi Khorasan, Iran Mashhad Univ Med Sci, Med Genet Res Ctr, Mashhad, Razavi Khorasan, Iran Genet Ctr Khorasan Razavi, Mashhad, Razavi Khorasan, Iran UCL, UCL Queen Sq Inst Neurol, London, EnglandEl Khashab, Heba论文数: 0 引用数: 0 h-index: 0机构: Ain Shams Univ, Childrens Hosp, Dept Pediat, Cairo, Egypt Ain Shams Univ, Childrens Hosp, Dept Pediat, Cairo, Egypt UCL, UCL Queen Sq Inst Neurol, London, EnglanddeHoll, Leigh论文数: 0 引用数: 0 h-index: 0机构: Med Univ South Carolina, Columbia, SC USA UCL, UCL Queen Sq Inst Neurol, London, EnglandYue, Wyatt论文数: 0 引用数: 0 h-index: 0机构: Dr Suliman Al Habib Med Grp, Dept Pediat, Riyadh, Saudi Arabia UCL, UCL Queen Sq Inst Neurol, London, EnglandAlsaif, Hessa S.论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Nuffield Dept Clin Med, Struct Genom Consortium, Oxford, England UCL, UCL Queen Sq Inst Neurol, London, EnglandZanetti, Maria N.论文数: 0 引用数: 0 h-index: 0机构: Mashhad Univ Med Sci, Student Res Comm, Fac Med, Mashhad, Razavi Khorasan, Iran UCL, UCL Queen Sq Inst Neurol, London, EnglandBello, Oscar论文数: 0 引用数: 0 h-index: 0机构: Mashhad Univ Med Sci, Student Res Comm, Fac Med, Mashhad, Razavi Khorasan, Iran UCL, Dept Clin & Expt Epilepsy, London, England UCL, UCL Queen Sq Inst Neurol, London, EnglandPerson, Richard论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD USA UCL, UCL Queen Sq Inst Neurol, London, EnglandEslahi, Atieh论文数: 0 引用数: 0 h-index: 0机构: Mashhad Univ Med Sci, Dept Med Genet, Fac Med, Mashhad, Razavi Khorasan, Iran Univ Oxford, Nuffield Dept Clin Med, Struct Genom Consortium, Oxford, England UCL, UCL Queen Sq Inst Neurol, London, EnglandKhazaei, Zaynab论文数: 0 引用数: 0 h-index: 0机构: Genet Ctr Khorasan Razavi, Mashhad, Razavi Khorasan, Iran UCL, UCL Queen Sq Inst Neurol, London, EnglandFeizabadi, Masoumeh H.论文数: 0 引用数: 0 h-index: 0机构: Mashhad Univ Med Sci, Dept Med Genet, Fac Med, Mashhad, Razavi Khorasan, Iran UCL, UCL Queen Sq Inst Neurol, London, EnglandEfthymiou, Stephanie论文数: 0 引用数: 0 h-index: 0机构: UCL, UCL Queen Sq Inst Neurol, London, England UCL, UCL Queen Sq Inst Neurol, London, EnglandEl-Bassyouni, Hala T.论文数: 0 引用数: 0 h-index: 0机构: Natl Res Ctr, Clin Genet Dept, Cairo, Egypt UCL, UCL Queen Sq Inst Neurol, London, EnglandSoliman, Doaa R.论文数: 0 引用数: 0 h-index: 0机构: Benha Univ, Dept Pediat, Fac Med, Banha, Egypt UCL, UCL Queen Sq Inst Neurol, London, EnglandTekes, Selahattin论文数: 0 引用数: 0 h-index: 0机构: Dicle Univ, Sch Med, Dept Med Genet, Diyarbakir, Turkey UCL, UCL Queen Sq Inst Neurol, London, EnglandOzer, Leyla论文数: 0 引用数: 0 h-index: 0机构: UCL, UCL Queen Sq Inst Neurol, London, England Yuksek Ihtisas Univ, Sch Med, Dept Med Genet, Ankara, Turkey UCL, UCL Queen Sq Inst Neurol, London, EnglandBaltaci, Volkan论文数: 0 引用数: 0 h-index: 0机构: Mikrogen Genet Diag Ctr, Ankara, Turkey UCL, UCL Queen Sq Inst Neurol, London, EnglandKhan, Suliman论文数: 0 引用数: 0 h-index: 0机构: CENTOGENE AG, Rostock, Germany UCL, UCL Queen Sq Inst Neurol, London, EnglandBeetz, Christian论文数: 0 引用数: 0 h-index: 0机构: CENTOGENE AG, Rostock, Germany UCL, UCL Queen Sq Inst Neurol, London, EnglandAmr, Khalda S.论文数: 0 引用数: 0 h-index: 0机构: Natl Res Ctr, Mol Genet Dept, Cairo, Egypt UCL, UCL Queen Sq Inst Neurol, London, EnglandSalpietro, Vincenzo论文数: 0 引用数: 0 h-index: 0机构: UCL, UCL Queen Sq Inst Neurol, London, England UCL, UCL Queen Sq Inst Neurol, London, EnglandJamshidi, Yalda论文数: 0 引用数: 0 h-index: 0机构: Univ London, Mol & Clin Sci Inst St Georges, London, England UCL, UCL Queen Sq Inst Neurol, London, EnglandAlkuraya, Fowzan S.论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Res Ctr Riyadh, Dept Genet, Riyadh, Saudi Arabia UCL, UCL Queen Sq Inst Neurol, London, EnglandHoulden, Henry论文数: 0 引用数: 0 h-index: 0机构: UCL, UCL Queen Sq Inst Neurol, London, England UCL, UCL Queen Sq Inst Neurol, London, England
- [24] Novel bi-allelic DNAH3 variants cause oligoasthenoteratozoospermiaFRONTIERS IN ENDOCRINOLOGY, 2024, 15Li, Shu论文数: 0 引用数: 0 h-index: 0机构: Xiamen Univ, Women & Childrens Hosp, Sch Med, Dept Androl, Xiamen, Fujian, Peoples R China Xiamen Univ, Women & Childrens Hosp, Sch Med, Dept Androl, Xiamen, Fujian, Peoples R ChinaZhang, Zexin论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci & Peking Union Med Coll, Beijing, Peoples R China Xiamen Univ, Women & Childrens Hosp, Sch Med, Dept Androl, Xiamen, Fujian, Peoples R ChinaXie, Linna论文数: 0 引用数: 0 h-index: 0机构: Xiamen Univ, Women & Childrens Hosp, Sch Med, Dept Androl, Xiamen, Fujian, Peoples R China Xiamen Univ, Sch Publ Hlth, State Key Lab Mol Vaccinol & Mol Diagnost, Xiamen, Fujian, Peoples R China Xiamen Univ, Women & Childrens Hosp, Sch Med, Dept Androl, Xiamen, Fujian, Peoples R ChinaZhao, Yanqiu论文数: 0 引用数: 0 h-index: 0机构: Xiamen Univ, Women & Childrens Hosp, Sch Med, Dept Androl, Xiamen, Fujian, Peoples R China Xiamen Univ, Women & Childrens Hosp, Sch Med, Dept Androl, Xiamen, Fujian, Peoples R ChinaChen, Hongtai论文数: 0 引用数: 0 h-index: 0机构: Xiamen Univ, Women & Childrens Hosp, Sch Med, Dept Androl, Xiamen, Fujian, Peoples R China Xiamen Univ, Women & Childrens Hosp, Sch Med, Dept Androl, Xiamen, Fujian, Peoples R ChinaZhang, Shijia论文数: 0 引用数: 0 h-index: 0机构: Xiamen Univ, Women & Childrens Hosp, Sch Med, Dept Androl, Xiamen, Fujian, Peoples R China Xiamen Univ, Women & Childrens Hosp, Sch Med, Dept Androl, Xiamen, Fujian, Peoples R ChinaCai, Yixiang论文数: 0 引用数: 0 h-index: 0机构: Xiamen Univ, Women & Childrens Hosp, Sch Med, Dept Androl, Xiamen, Fujian, Peoples R China Xiamen Univ, Women & Childrens Hosp, Sch Med, Dept Androl, Xiamen, Fujian, Peoples R ChinaRen, Bingjie论文数: 0 引用数: 0 h-index: 0机构: Xiamen Univ, Women & Childrens Hosp, Sch Med, Dept Androl, Xiamen, Fujian, Peoples R China Xiamen Univ, Women & Childrens Hosp, Sch Med, Dept Androl, Xiamen, Fujian, Peoples R ChinaLiu, Wensheng论文数: 0 引用数: 0 h-index: 0机构: Guangdong Prov Fertil Hosp, Guangdong Prov Reprod Sci Inst, Natl Hlth Commiss NHC Key Lab Male Reprod & Genet, Guangzhou, Guangdong, Peoples R China Xiamen Univ, Women & Childrens Hosp, Sch Med, Dept Androl, Xiamen, Fujian, Peoples R ChinaTang, Songxi论文数: 0 引用数: 0 h-index: 0机构: Fujian Med Univ, Affiliated Hosp 1, Dept Androl & Sexual Med, Fuzhou, Peoples R China Xiamen Univ, Women & Childrens Hosp, Sch Med, Dept Androl, Xiamen, Fujian, Peoples R ChinaSha, Yanwei论文数: 0 引用数: 0 h-index: 0机构: Xiamen Univ, Women & Childrens Hosp, Sch Med, Dept Androl, Xiamen, Fujian, Peoples R China Xiamen Univ, Sch Publ Hlth, State Key Lab Mol Vaccinol & Mol Diagnost, Xiamen, Fujian, Peoples R China Xiamen Univ, Sch Med, Fujian Prov Key Lab Reprod Hlth Res, Xiamen, Fujian, Peoples R China Xiamen Univ, Women & Childrens Hosp, Sch Med, Dept Androl, Xiamen, Fujian, Peoples R China
- [25] Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variantsBRAIN, 2020, 143 : 2388 - 2397Neuray, Caroline论文数: 0 引用数: 0 h-index: 0机构: UCL, UCL Queen Sq Inst Neurol, London, England Paracelsus Med Univ, Dept Neurol, Christian Doppler Klin, Salzburg, Austria UCL, UCL Queen Sq Inst Neurol, London, EnglandMaroofian, Reza论文数: 0 引用数: 0 h-index: 0机构: UCL, UCL Queen Sq Inst Neurol, London, England UCL, UCL Queen Sq Inst Neurol, London, EnglandScala, Marcello论文数: 0 引用数: 0 h-index: 0机构: UCL, UCL Queen Sq Inst Neurol, London, England Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, Italy IRCCS Ist Giannina Gaslini, Genoa, Italy UCL, UCL Queen Sq Inst Neurol, London, EnglandSultan, Tipu论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Dept Pediat Neurol, Lahore, Pakistan Inst Child Hlth, Lahore, Pakistan UCL, UCL Queen Sq Inst Neurol, London, EnglandPai, Gurpur S.论文数: 0 引用数: 0 h-index: 0机构: Med Univ South Carolina, Charleston, SC 29425 USA UCL, UCL Queen Sq Inst Neurol, London, EnglandMojarrad, Majid论文数: 0 引用数: 0 h-index: 0机构: Mashhad Univ Med Sci, Fac Med, Dept Med Genet, Mashhad, Razavi Khorasan, Iran Mashhad Univ Med Sci, Med Genet Res Ctr, Mashhad, Razavi Khorasan, Iran Genet Ctr Khorasan Razavi, Mashhad, Razavi Khorasan, Iran UCL, UCL Queen Sq Inst Neurol, London, EnglandEl Khashab, Heba论文数: 0 引用数: 0 h-index: 0机构: Ain Shams Univ, Childrens Hosp, Dept Pediat, Cairo, Egypt Dr Suliman Al Habib Med Grp, Dept Pediat, Riyadh, Saudi Arabia UCL, UCL Queen Sq Inst Neurol, London, EnglanddeHoll, Leigh论文数: 0 引用数: 0 h-index: 0机构: Med Univ South Carolina, Charleston, SC 29425 USA UCL, UCL Queen Sq Inst Neurol, London, EnglandYue, Wyatt论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Nuffield Dept Clin Med, Struct Genom Consortium, Oxford, England UCL, UCL Queen Sq Inst Neurol, London, EnglandAlsaif, Hessa S.论文数: 0 引用数: 0 h-index: 0机构: Mashhad Univ Med Sci, Fac Med, Student Res Comm, Mashhad, Razavi Khorasan, Iran UCL, UCL Queen Sq Inst Neurol, London, EnglandZanetti, Maria N.论文数: 0 引用数: 0 h-index: 0机构: UCL, Dept Clin & Expt Epilepsy, London, England UCL, UCL Queen Sq Inst Neurol, London, EnglandBello, Oscar论文数: 0 引用数: 0 h-index: 0机构: UCL, Dept Clin & Expt Epilepsy, London, England UCL, UCL Queen Sq Inst Neurol, London, EnglandPerson, Richard论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD USA UCL, UCL Queen Sq Inst Neurol, London, EnglandEslahi, Atieh论文数: 0 引用数: 0 h-index: 0机构: Mashhad Univ Med Sci, Fac Med, Dept Med Genet, Mashhad, Razavi Khorasan, Iran Mashhad Univ Med Sci, Fac Med, Student Res Comm, Mashhad, Razavi Khorasan, Iran UCL, UCL Queen Sq Inst Neurol, London, EnglandKhazaei, Zaynab论文数: 0 引用数: 0 h-index: 0机构: Genet Ctr Khorasan Razavi, Mashhad, Razavi Khorasan, Iran UCL, UCL Queen Sq Inst Neurol, London, EnglandFeizabadi, Masoumeh H.论文数: 0 引用数: 0 h-index: 0机构: Mashhad Univ Med Sci, Fac Med, Dept Med Genet, Mashhad, Razavi Khorasan, Iran UCL, UCL Queen Sq Inst Neurol, London, EnglandEfthymiou, Stephanie论文数: 0 引用数: 0 h-index: 0机构: UCL, UCL Queen Sq Inst Neurol, London, England UCL, UCL Queen Sq Inst Neurol, London, EnglandEl-Bassyouni, Hala T.论文数: 0 引用数: 0 h-index: 0机构: Natl Res Ctr, Clin Genet Dept, Cairo, Egypt UCL, UCL Queen Sq Inst Neurol, London, EnglandSoliman, Doaa R.论文数: 0 引用数: 0 h-index: 0机构: Benha Univ, Fac Med, Dept Pediat, Banha, Egypt UCL, UCL Queen Sq Inst Neurol, London, EnglandTekes, Selahattin论文数: 0 引用数: 0 h-index: 0机构: Dicle Univ, Sch Med, Dept Med Genet, Diyarbakir, Turkey UCL, UCL Queen Sq Inst Neurol, London, EnglandOzer, Leyla论文数: 0 引用数: 0 h-index: 0机构: Yuksek Ihtisas Univ, Sch Med, Dept Med Genet, Ankara, Turkey UCL, UCL Queen Sq Inst Neurol, London, EnglandBaltaci, Volkan论文数: 0 引用数: 0 h-index: 0机构: Mikrogen Genet Diag Ctr, Ankara, Turkey UCL, UCL Queen Sq Inst Neurol, London, EnglandKhan, Suliman论文数: 0 引用数: 0 h-index: 0机构: CENTOGENE AG, Rostock, Germany UCL, UCL Queen Sq Inst Neurol, London, EnglandBeetz, Christian论文数: 0 引用数: 0 h-index: 0机构: CENTOGENE AG, Rostock, Germany UCL, UCL Queen Sq Inst Neurol, London, EnglandAmr, Khalda S.论文数: 0 引用数: 0 h-index: 0机构: Natl Res Ctr, Mol Genet Dept, Cairo, Egypt UCL, UCL Queen Sq Inst Neurol, London, EnglandSalpietro, Vincenzo论文数: 0 引用数: 0 h-index: 0机构: UCL, UCL Queen Sq Inst Neurol, London, England UCL, UCL Queen Sq Inst Neurol, London, EnglandJamshidi, Yalda论文数: 0 引用数: 0 h-index: 0机构: Univ London, Mol & Clin Sci Inst St Georges, London, England UCL, UCL Queen Sq Inst Neurol, London, EnglandAlkuraya, Fowzan S.论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Res Ctr Riyadh, Dept Genet, Riyadh, Saudi Arabia UCL, UCL Queen Sq Inst Neurol, London, EnglandHoulden, Henry论文数: 0 引用数: 0 h-index: 0机构: UCL, UCL Queen Sq Inst Neurol, London, England UCL, UCL Queen Sq Inst Neurol, London, England
- [26] Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1EUROPEAN JOURNAL OF HUMAN GENETICS, 2021, 29 (03) : 411 - 421Appelhof, Bart论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Human Genet, Leiden, Netherlands Leiden Univ, Med Ctr, Dept Human Genet, Leiden, NetherlandsWagner, Matias论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Munich, Inst Neurogenom, Neuherberg, Germany Tech Univ Munich, Munich, Germany Univ Med Ctr Leipzig, Inst Human Genet, Leipzig, Germany Leiden Univ, Med Ctr, Dept Human Genet, Leiden, NetherlandsHoefele, Julia论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Human Genet, Klinikum Rechts Isar, Sch Med, Munich, Germany Leiden Univ, Med Ctr, Dept Human Genet, Leiden, NetherlandsHeinze, Anja论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Human Genet, Klinikum Rechts Isar, Sch Med, Munich, Germany Univ Med Ctr Leipzig, Inst Human Genet, Leipzig, Germany Leiden Univ, Med Ctr, Dept Human Genet, Leiden, NetherlandsRoser, Timo论文数: 0 引用数: 0 h-index: 0机构: Ludwig Maximilian Univ Munich, Dr von Haunersches Childrens Hosp, Dept Pediat, Div Pediat Neurol Dev Med & Social Pediat, Munich, Germany Leiden Univ, Med Ctr, Dept Human Genet, Leiden, NetherlandsKoch-Hogrebe, Margarete论文数: 0 引用数: 0 h-index: 0机构: Vest Kinder & Jugendklin, Datteln, Germany Leiden Univ, Med Ctr, Dept Human Genet, Leiden, NetherlandsRoosendaal, Stefan D.论文数: 0 引用数: 0 h-index: 0机构: Univ Amsterdam, Med Ctr, Dept Radiol, Amsterdam, Netherlands Leiden Univ, Med Ctr, Dept Human Genet, Leiden, NetherlandsDehghani, Mohammadreza论文数: 0 引用数: 0 h-index: 0机构: Shahid Sadoughi Univ Med, Med Genet Res Ctr, Yazd, Iran Leiden Univ, Med Ctr, Dept Human Genet, Leiden, NetherlandsMehrjardi, Mohammad Yahya Vahidi论文数: 0 引用数: 0 h-index: 0机构: Shahid Sadoughi Univ Med, Med Genet Res Ctr, Yazd, Iran Leiden Univ, Med Ctr, Dept Human Genet, Leiden, NetherlandsTorti, Erin论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD USA Leiden Univ, Med Ctr, Dept Human Genet, Leiden, NetherlandsHoulden, Henry论文数: 0 引用数: 0 h-index: 0机构: UCL, Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London, England Leiden Univ, Med Ctr, Dept Human Genet, Leiden, NetherlandsMaroofian, Reza论文数: 0 引用数: 0 h-index: 0机构: UCL, Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London, England Leiden Univ, Med Ctr, Dept Human Genet, Leiden, NetherlandsRajabi, Farrah论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Div Genet & Genom, Boston, MA USA Leiden Univ, Med Ctr, Dept Human Genet, Leiden, NetherlandsSticht, Heinrich论文数: 0 引用数: 0 h-index: 0机构: Friedrich Alexander Nurnberg, Inst Biochem, Div Bioinformat, Erlangen, Germany Leiden Univ, Med Ctr, Dept Human Genet, Leiden, NetherlandsBaas, Frank论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Human Genet, Leiden, Netherlands Leiden Univ, Med Ctr, Dept Human Genet, Leiden, NetherlandsWieczorek, Dagmar论文数: 0 引用数: 0 h-index: 0机构: Heinrich Heine Univ Dusseldorf, Med Fac, Inst Human Genet, Dusseldorf, Germany Leiden Univ, Med Ctr, Dept Human Genet, Leiden, NetherlandsAbou Jamra, Rami论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Leipzig, Inst Human Genet, Leipzig, Germany Leiden Univ, Med Ctr, Dept Human Genet, Leiden, Netherlands
- [27] Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephalyBRAIN, 2022, : 1916 - 1923Kloeckner, Chiara论文数: 0 引用数: 0 h-index: 0机构: Univ Leipzig, Inst Human Genet, Med Ctr, D-04103 Leipzig, Germany Univ Leipzig, Inst Human Genet, Med Ctr, D-04103 Leipzig, GermanyMurray, J. Pedro Fernandez论文数: 0 引用数: 0 h-index: 0机构: Dalhousie Univ, Dept Pharmacol, Halifax, NS B3N 0A1, Canada Univ Leipzig, Inst Human Genet, Med Ctr, D-04103 Leipzig, GermanyTavasoli, Mahtab论文数: 0 引用数: 0 h-index: 0机构: Dalhousie Univ, Dept Pharmacol, Halifax, NS B3N 0A1, Canada Univ Leipzig, Inst Human Genet, Med Ctr, D-04103 Leipzig, GermanySticht, Heinrich论文数: 0 引用数: 0 h-index: 0机构: Friedrich Alexander Univ Erlangen Nurnberg, Inst Biochem, D-91058 Erlangen, Germany Univ Leipzig, Inst Human Genet, Med Ctr, D-04103 Leipzig, GermanyStoltenburg-Didinger, Gisela论文数: 0 引用数: 0 h-index: 0机构: Charite Univ Med Berlin, Inst Cell Biol & Neurobiol, D-10117 Berlin, Germany Univ Leipzig, Inst Human Genet, Med Ctr, D-04103 Leipzig, GermanyScholle, Leila Motlagh论文数: 0 引用数: 0 h-index: 0机构: Univ Halle S, Dept Neurol, D-06120 Halle, Germany Univ Leipzig, Inst Human Genet, Med Ctr, D-04103 Leipzig, GermanyBakhtiari, Somayeh论文数: 0 引用数: 0 h-index: 0机构: Phoenix Childrens Hosp, Barrow Neurol Inst, Div Pediat Neurol, Pediat Movement Disorders Program, Phoenix, AZ 85004 USA Univ Arizona, Dept Child Hlth, Coll Med, Phoenix, AZ 85004 USA Univ Arizona, Dept Neurol, Coll Med, Phoenix, AZ 85004 USA Univ Arizona, Dept Mol Med, Coll Med, Phoenix, AZ 85004 USA Univ Arizona, Program Genet, Phoenix, AZ 85004 USA Univ Leipzig, Inst Human Genet, Med Ctr, D-04103 Leipzig, GermanyKruer, Michael C.论文数: 0 引用数: 0 h-index: 0机构: Phoenix Childrens Hosp, Barrow Neurol Inst, Div Pediat Neurol, Pediat Movement Disorders Program, Phoenix, AZ 85004 USA Univ Arizona, Dept Child Hlth, Coll Med, Phoenix, AZ 85004 USA Univ Arizona, Dept Neurol, Coll Med, Phoenix, AZ 85004 USA Univ Arizona, Dept Mol Med, Coll Med, Phoenix, AZ 85004 USA Univ Arizona, Program Genet, Phoenix, AZ 85004 USA Univ Leipzig, Inst Human Genet, Med Ctr, D-04103 Leipzig, GermanyDarvish, Hossein论文数: 0 引用数: 0 h-index: 0机构: Golestan Univ Med Sci, Fac Med, Neurosci Res Ctr, Gorgan, Golestan, Iran Univ Leipzig, Inst Human Genet, Med Ctr, D-04103 Leipzig, GermanyFirouzabadi, Saghar Ghasemi论文数: 0 引用数: 0 h-index: 0机构: Univ Social Welf & Rehabil Sci, Genet Res Ctr, Tehran, Golestan, Iran Univ Leipzig, Inst Human Genet, Med Ctr, D-04103 Leipzig, GermanyPagnozzi, Alex论文数: 0 引用数: 0 h-index: 0机构: Australian Hlth Res Ctr, CSIRO Hlth & Biosecur, Brisbane, Qld 4029, Australia Univ Leipzig, Inst Human Genet, Med Ctr, D-04103 Leipzig, GermanyShukla, Anju论文数: 0 引用数: 0 h-index: 0机构: Manipal Acad Higher Educ, Kasturba Med Coll, Dept Med Genet, Manipal 576104, Karnataka, India Univ Leipzig, Inst Human Genet, Med Ctr, D-04103 Leipzig, GermanyGirisha, Katta Mohan论文数: 0 引用数: 0 h-index: 0机构: Manipal Acad Higher Educ, Kasturba Med Coll, Dept Med Genet, Manipal 576104, Karnataka, India Univ Leipzig, Inst Human Genet, Med Ctr, D-04103 Leipzig, GermanyNarayanan, Dhanya Lakshmi论文数: 0 引用数: 0 h-index: 0机构: Manipal Acad Higher Educ, Kasturba Med Coll, Dept Med Genet, Manipal 576104, Karnataka, India Univ Leipzig, Inst Human Genet, Med Ctr, D-04103 Leipzig, GermanyKaur, Parneet论文数: 0 引用数: 0 h-index: 0机构: Manipal Acad Higher Educ, Kasturba Med Coll, Dept Med Genet, Manipal 576104, Karnataka, India Univ Leipzig, Inst Human Genet, Med Ctr, D-04103 Leipzig, GermanyMaroofian, Reza论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, England Univ Leipzig, Inst Human Genet, Med Ctr, D-04103 Leipzig, GermanyZaki, Maha S.论文数: 0 引用数: 0 h-index: 0机构: Natl Res Ctr, Clin Genet Dept, Human Genet & Genome Res Div, Cairo, Egypt Univ Leipzig, Inst Human Genet, Med Ctr, D-04103 Leipzig, Germany论文数: 引用数: h-index:机构:Merkenschlager, Andreas论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Leipzig, Hosp Children & Adolescents, Div Neuropaediat, D-04103 Leipzig, Germany Univ Leipzig, Inst Human Genet, Med Ctr, D-04103 Leipzig, GermanyGburek-Augustat, Janina论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Leipzig, Hosp Children & Adolescents, Div Neuropaediat, D-04103 Leipzig, Germany Univ Leipzig, Inst Human Genet, Med Ctr, D-04103 Leipzig, GermanyCali, Elisa论文数: 0 引用数: 0 h-index: 0机构: Dr MR Khan Shishu Children Hosp, Dept Pediat Neurol, Dhaka, Bangladesh ICH, Dhaka, Bangladesh Univ Leipzig, Inst Human Genet, Med Ctr, D-04103 Leipzig, GermanyBanu, Selina论文数: 0 引用数: 0 h-index: 0机构: Dr MR Khan Shishu Children Hosp, Dept Pediat Neurol, Dhaka, Bangladesh ICH, Dhaka, Bangladesh Univ Leipzig, Inst Human Genet, Med Ctr, D-04103 Leipzig, GermanyNahar, Kamrun论文数: 0 引用数: 0 h-index: 0机构: Dr MR Khan Shishu Children Hosp, Dept Pediat Neurol, Dhaka, Bangladesh ICH, Dhaka, Bangladesh Univ Leipzig, Inst Human Genet, Med Ctr, D-04103 Leipzig, GermanyEfthymiou, Stephanie论文数: 0 引用数: 0 h-index: 0机构: Dr MR Khan Shishu Children Hosp, Dept Pediat Neurol, Dhaka, Bangladesh ICH, Dhaka, Bangladesh Univ Leipzig, Inst Human Genet, Med Ctr, D-04103 Leipzig, GermanyHoulden, Henry论文数: 0 引用数: 0 h-index: 0机构: Dr MR Khan Shishu Children Hosp, Dept Pediat Neurol, Dhaka, Bangladesh ICH, Dhaka, Bangladesh Univ Leipzig, Inst Human Genet, Med Ctr, D-04103 Leipzig, GermanyAbou Jamra, Rami论文数: 0 引用数: 0 h-index: 0机构: Univ Leipzig, Inst Human Genet, Med Ctr, D-04103 Leipzig, Germany Univ Leipzig, Inst Human Genet, Med Ctr, D-04103 Leipzig, GermanyWilliams, Jason论文数: 0 引用数: 0 h-index: 0机构: Dalhousie Univ, Dept Pharmacol, Halifax, NS B3N 0A1, Canada Univ Leipzig, Inst Human Genet, Med Ctr, D-04103 Leipzig, GermanyMcMaster, Christopher R.论文数: 0 引用数: 0 h-index: 0机构: Dalhousie Univ, Dept Pharmacol, Halifax, NS B3N 0A1, Canada Univ Leipzig, Inst Human Genet, Med Ctr, D-04103 Leipzig, GermanyPlatzer, Konrad论文数: 0 引用数: 0 h-index: 0机构: Univ Leipzig, Inst Human Genet, Med Ctr, D-04103 Leipzig, Germany Univ Leipzig, Inst Human Genet, Med Ctr, D-04103 Leipzig, Germany
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USAGrochowski, Christopher M.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAJhangiani, Shalini N.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAKaraca, Ender论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAFatih, Jawid M.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAIwanowski, Piotr论文数: 0 引用数: 0 h-index: 0机构: Childrens Mem Hlth Inst, Dept Med Genet, PL-04730 Warsaw, Poland Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA论文数: 引用数: h-index:机构:Wlasienko, Pawel论文数: 0 引用数: 0 h-index: 0机构: Inst Mother & Child Hlth, Dept Med Genet, PL-01211 Warsaw, Poland Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAGoszczanska-Ciuchta, Alicja论文数: 0 引用数: 0 h-index: 0机构: Inst Mother & Child Hlth, Clin Neurol Children & Adolescents, PL-01211 Warsaw, Poland Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USABekiesinska-Figatowska, Monika论文数: 0 引用数: 0 h-index: 0机构: Inst Mother & Child Hlth, Dept Diagnost Imaging, PL-01211 Warsaw, Poland Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAHosseini, Masoumeh论文数: 0 引用数: 0 h-index: 0机构: Univ Social Welf & Rehabil Sci, Genet Res Ctr, Tehran 19857, Iran Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAArzhangi, Sanaz论文数: 0 引用数: 0 h-index: 0机构: Univ Social Welf & Rehabil Sci, Genet Res Ctr, Tehran 19857, Iran Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USANajmabadi, Hossein论文数: 0 引用数: 0 h-index: 0机构: Univ Social Welf & Rehabil Sci, Genet Res Ctr, Tehran 19857, Iran Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USARosenfeld, Jill A.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USADu, Haowei论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Teitelbaum, Ronni论文数: 0 引用数: 0 h-index: 0机构: Univ Toronto, Prenatal Diag & Med Genet Program, Dept Obstet & Gynecol, Mt Sinai Hosp, Toronto, ON M5G 1Z5, Canada Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USASilver, Rachel论文数: 0 引用数: 0 h-index: 0机构: Univ Toronto, Prenatal Diag & Med Genet Program, Dept Obstet & Gynecol, Mt Sinai Hosp, Toronto, ON M5G 1Z5, Canada Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAPosey, Jennifer E.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USARopers, Hans-Hilger论文数: 0 引用数: 0 h-index: 0机构: Univ Med Mainz, Inst Human Genet, D-55131 Mainz, Germany Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAGibbs, Richard A.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAWiszniewski, Wojciech论文数: 0 引用数: 0 h-index: 0机构: Inst Mother & Child Hlth, Dept Med Genet, PL-01211 Warsaw, Poland Oregon Hlth & Sci Univ, Dept Mol & Med Genet, Portland, OR 97239 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USALupski, James R.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA Texas Childrens Hosp, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA论文数: 引用数: h-index:机构:Kahrizi, Kimia论文数: 0 引用数: 0 h-index: 0机构: Univ Social Welf & Rehabil Sci, Genet Res Ctr, Tehran 19857, Iran Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAGawlinski, Pawel论文数: 0 引用数: 0 h-index: 0机构: Inst Mother & Child Hlth, Dept Med Genet, PL-01211 Warsaw, Poland Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA
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