共 50 条
- [31] An Exome Sequencing Study to Assess the Role of Rare Genetic Variation in Pulmonary FibrosisAMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 2017, 196 (01) : 82 - 93Petrovski, Slave论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Med Ctr, Inst Genom Med, 701 West 168th St,14th Floor, New York, NY 10032 USA Univ Melbourne, Dept Med, Austin Hlth, Melbourne, Vic, Australia Univ Melbourne, Royal Melbourne Hosp, Melbourne, Vic, Australia Columbia Univ, Med Ctr, Inst Genom Med, 701 West 168th St,14th Floor, New York, NY 10032 USATodd, Jamie L.论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Med Ctr, Dept Med, Div Pulm Allergy & Crit Care Med, Durham, NC 27710 USA Duke Clin Res Inst, Durham, NC USA Columbia Univ, Med Ctr, Inst Genom Med, 701 West 168th St,14th Floor, New York, NY 10032 USADurheim, Michael T.论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Med Ctr, Dept Med, Div Pulm Allergy & Crit Care Med, Durham, NC 27710 USA Duke Clin Res Inst, Durham, NC USA Columbia Univ, Med Ctr, Inst Genom Med, 701 West 168th St,14th Floor, New York, NY 10032 USAWang, Quanli论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Med Ctr, Inst Genom Med, 701 West 168th St,14th Floor, New York, NY 10032 USA Columbia Univ, Med Ctr, Inst Genom Med, 701 West 168th St,14th Floor, New York, NY 10032 USAChien, Jason W.论文数: 0 引用数: 0 h-index: 0机构: Gilead Sci Inc, 353 Lakeside Dr, Foster City, CA 94404 USA Columbia Univ, Med Ctr, Inst Genom Med, 701 West 168th St,14th Floor, New York, NY 10032 USAKelly, Fran L.论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Med Ctr, Dept Med, Div Pulm Allergy & Crit Care Med, Durham, NC 27710 USA Columbia Univ, Med Ctr, Inst Genom Med, 701 West 168th St,14th Floor, New York, NY 10032 USA论文数: 引用数: h-index:机构:Mebane, Caroline M.论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Med Ctr, Inst Genom Med, 701 West 168th St,14th Floor, New York, NY 10032 USA Columbia Univ, Med Ctr, Inst Genom Med, 701 West 168th St,14th Floor, New York, NY 10032 USARen, Zhong论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Med Ctr, Inst Genom Med, 701 West 168th St,14th Floor, New York, NY 10032 USA Columbia Univ, Med Ctr, Inst Genom Med, 701 West 168th St,14th Floor, New York, NY 10032 USABridgers, Joshua论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Med Ctr, Inst Genom Med, 701 West 168th St,14th Floor, New York, NY 10032 USA Columbia Univ, Med Ctr, Inst Genom Med, 701 West 168th St,14th Floor, New York, NY 10032 USAUrban, Thomas J.论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Div Pharmacotherapy & Expt Therapeut, Ctr Pharmacogen & Individualized Therapy, UNC Eshelman Sch Pharm, Chapel Hill, NC USA Columbia Univ, Med Ctr, Inst Genom Med, 701 West 168th St,14th Floor, New York, NY 10032 USAMalone, Colin D.论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Med Ctr, Inst Genom Med, 701 West 168th St,14th Floor, New York, NY 10032 USA Columbia Univ, Med Ctr, Inst Genom Med, 701 West 168th St,14th Floor, New York, NY 10032 USACopeland, Ashley Finlen论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Med Ctr, Dept Med, Div Pulm Allergy & Crit Care Med, Durham, NC 27710 USA Columbia Univ, Med Ctr, Inst Genom Med, 701 West 168th St,14th Floor, New York, NY 10032 USABrinkley, Christie论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Med Ctr, Dept Med, Div Pulm Allergy & Crit Care Med, Durham, NC 27710 USA Columbia Univ, Med Ctr, Inst Genom Med, 701 West 168th St,14th Floor, New York, NY 10032 USAAllen, Andrew S.论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Dept Biostat & Bioinformat, Durham, NC USA Columbia Univ, Med Ctr, Inst Genom Med, 701 West 168th St,14th Floor, New York, NY 10032 USAO'Riordan, Thomas论文数: 0 引用数: 0 h-index: 0机构: Gilead Sci Inc, 353 Lakeside Dr, Foster City, CA 94404 USA Columbia Univ, Med Ctr, Inst Genom Med, 701 West 168th St,14th Floor, New York, NY 10032 USAMcHutchison, John G.论文数: 0 引用数: 0 h-index: 0机构: Gilead Sci Inc, 353 Lakeside Dr, Foster City, CA 94404 USA Columbia Univ, Med Ctr, Inst Genom Med, 701 West 168th St,14th Floor, New York, NY 10032 USAPalmer, Scott M.论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Med Ctr, Dept Med, Div Pulm Allergy & Crit Care Med, Durham, NC 27710 USA Duke Clin Res Inst, Durham, NC USA Columbia Univ, Med Ctr, Inst Genom Med, 701 West 168th St,14th Floor, New York, NY 10032 USAGoldstein, David B.论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Med Ctr, Inst Genom Med, 701 West 168th St,14th Floor, New York, NY 10032 USA Columbia Univ, Med Ctr, Inst Genom Med, 701 West 168th St,14th Floor, New York, NY 10032 USA
- [32] Whole exome sequencing followed by reverse phenotyping in patients with neurodevelopmental disorders identifies rare genetic syndromes and reveals novel clinical and genetic variantsEUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 : 485 - 486论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Avdjieva-Tzavella, Daniela论文数: 0 引用数: 0 h-index: 0机构: Med Univ Sofia, Mol Med Ctr, Dept Med Chem & Biochem, Sofia, BulgariaPeycheva, Valentina论文数: 0 引用数: 0 h-index: 0机构: Med Univ Sofia, Mol Med Ctr, Dept Med Chem & Biochem, Sofia, Bulgaria Med Univ Sofia, Mol Med Ctr, Dept Med Chem & Biochem, Sofia, BulgariaLitvinenko, Ivan论文数: 0 引用数: 0 h-index: 0机构: SBAL Childrens Hosp Prof Dr Ivan Mitev, Neurol Clin, Sofia, Bulgaria Med Univ Sofia, Mol Med Ctr, Dept Med Chem & Biochem, Sofia, BulgariaTacheva, Genoveva论文数: 0 引用数: 0 h-index: 0机构: SBAL Childrens Hosp Prof Dr Ivan Mitev, Pediat, Sofia, Bulgaria Med Univ Sofia, Mol Med Ctr, Dept Med Chem & Biochem, Sofia, BulgariaAleksandrova, Iliyana论文数: 0 引用数: 0 h-index: 0机构: Med Univ Sofia, Children Neurol Clin, Univ Hosp Neurol & Psychiat Sveti Naum, Sofia, Bulgaria Med Univ Sofia, Mol Med Ctr, Dept Med Chem & Biochem, Sofia, BulgariaGuergelcheva, Velina论文数: 0 引用数: 0 h-index: 0机构: UMBAL Sofiamed, Neurol Clin, Sofia, Bulgaria Sofia Univ St Kliment Ochridski, Med Fac, Sofia, Bulgaria Med Univ Sofia, Mol Med Ctr, Dept Med Chem & Biochem, Sofia, BulgariaBojinova-Tchamova, Veneta论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Neurol & Psychiat Sveti Naum, Children Neurol Clin, Sofia, Bulgaria Med Univ Sofia, Mol Med Ctr, Dept Med Chem & Biochem, Sofia, BulgariaMitev, Vanyo论文数: 0 引用数: 0 h-index: 0机构: Med Univ Sofia, Med Chem & Biochem, Sofia, Bulgaria Med Univ Sofia, Mol Med Ctr, Dept Med Chem & Biochem, Sofia, Bulgaria论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:
- [33] Exome Sequencing Deciphers Rare DiseasesCELL, 2011, 144 (05) : 635 - 637Maxmen, Amy论文数: 0 引用数: 0 h-index: 0
- [34] Diagnostics of rare disorders: whole-exome sequencing deciphering locus heterogeneity in telomere biology disordersOrphanet Journal of Rare Diseases, 13Luca Trotta论文数: 0 引用数: 0 h-index: 0机构: University of Helsinki,Institute for Molecular Medicine Finland FIMM, HiLIFEAnna Norberg论文数: 0 引用数: 0 h-index: 0机构: University of Helsinki,Institute for Molecular Medicine Finland FIMM, HiLIFEMervi Taskinen论文数: 0 引用数: 0 h-index: 0机构: University of Helsinki,Institute for Molecular Medicine Finland FIMM, HiLIFEVivien Béziat论文数: 0 引用数: 0 h-index: 0机构: University of Helsinki,Institute for Molecular Medicine Finland FIMM, HiLIFESofie Degerman论文数: 0 引用数: 0 h-index: 0机构: University of Helsinki,Institute for Molecular Medicine Finland FIMM, HiLIFEUlla Wartiovaara-Kautto论文数: 0 引用数: 0 h-index: 0机构: University of Helsinki,Institute for Molecular Medicine Finland FIMM, HiLIFEHannamari Välimaa论文数: 0 引用数: 0 h-index: 0机构: University of Helsinki,Institute for Molecular Medicine Finland FIMM, HiLIFEKirsi Jahnukainen论文数: 0 引用数: 0 h-index: 0机构: University of Helsinki,Institute for Molecular Medicine Finland FIMM, HiLIFEJean-Laurent Casanova论文数: 0 引用数: 0 h-index: 0机构: University of Helsinki,Institute for Molecular Medicine Finland FIMM, HiLIFEMikko Seppänen论文数: 0 引用数: 0 h-index: 0机构: University of Helsinki,Institute for Molecular Medicine Finland FIMM, HiLIFEJanna Saarela论文数: 0 引用数: 0 h-index: 0机构: University of Helsinki,Institute for Molecular Medicine Finland FIMM, HiLIFEMinna Koskenvuo论文数: 0 引用数: 0 h-index: 0机构: University of Helsinki,Institute for Molecular Medicine Finland FIMM, HiLIFETimi Martelius论文数: 0 引用数: 0 h-index: 0机构: University of Helsinki,Institute for Molecular Medicine Finland FIMM, HiLIFE
- [35] Whole-Exome Sequencing for Identifying Genetic Causes of Intellectual Developmental DisordersINTERNATIONAL JOURNAL OF GENERAL MEDICINE, 2021, 14 : 1275 - 1282Guo, Yu-Xiong论文数: 0 引用数: 0 h-index: 0机构: Southern Med Univ, Sch Clin Med 2, Guangzhou 510280, Peoples R China Guangdong Acad Med Sci, Guangdong Prov Peoples Hosp, Dept Pediat, 106 Zhongshan Second Rd, Guangzhou 510080, Peoples R China Southern Med Univ, Sch Clin Med 2, Guangzhou 510280, Peoples R ChinaMa, Hong-Xia论文数: 0 引用数: 0 h-index: 0机构: Southern Med Univ, Sch Clin Med 2, Guangzhou 510280, Peoples R China Guangdong Acad Med Sci, Guangdong Prov Peoples Hosp, Dept Pediat, 106 Zhongshan Second Rd, Guangzhou 510080, Peoples R China Guangdong Med Univ, Dept Pediat, Affiliated Hosp, Zhanjiang 524000, Peoples R China Southern Med Univ, Sch Clin Med 2, Guangzhou 510280, Peoples R ChinaZhang, Yu-Xin论文数: 0 引用数: 0 h-index: 0机构: Guangdong Acad Med Sci, Guangdong Prov Peoples Hosp, Dept Pediat, 106 Zhongshan Second Rd, Guangzhou 510080, Peoples R China Southern Med Univ, Sch Clin Med 2, Guangzhou 510280, Peoples R ChinaChen, Zhi-Hong论文数: 0 引用数: 0 h-index: 0机构: Guangdong Acad Med Sci, Guangdong Prov Peoples Hosp, Dept Pediat, 106 Zhongshan Second Rd, Guangzhou 510080, Peoples R China Southern Med Univ, Sch Clin Med 2, Guangzhou 510280, Peoples R ChinaZhai, Qiong-Xiang论文数: 0 引用数: 0 h-index: 0机构: Southern Med Univ, Sch Clin Med 2, Guangzhou 510280, Peoples R China Guangdong Acad Med Sci, Guangdong Prov Peoples Hosp, Dept Pediat, 106 Zhongshan Second Rd, Guangzhou 510080, Peoples R China Southern Med Univ, Sch Clin Med 2, Guangzhou 510280, Peoples R China
- [36] Exome Sequencing Identifies Multiple Genetic Diagnoses in Children with Syndromic Growth DisordersJOURNAL OF PEDIATRICS, 2024, 265Rezende, Raissa Carneiro论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Hosp Clin Univ Sao Paulo, Hosp Clin, Unidade Endocrinol Genet,Lab Endocrinol Celular &, Sao Paulo, SP, Brazil Univ Sao Paulo, Hosp Clin Univ Sao Paulo, Hosp Clin, Unidade Endocrinol Genet,Lab Endocrinol Celular &, Sao Paulo, SP, Brazilde Andrade, Nathalia Liberatoscioli Menezes论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Hosp Clin Univ Sao Paulo, Hosp Clin, Unidade Endocrinol Genet,Lab Endocrinol Celular &, Sao Paulo, SP, Brazil Univ Sao Paulo, Hosp Clin Univ Sao Paulo, Hosp Clin, Unidade Endocrinol Genet,Lab Endocrinol Celular &, Sao Paulo, SP, BrazilDantas, Naiara Castelo Branco论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Hosp Clin Univ Sao Paulo, Hosp Clin, Unidade Endocrinol Genet,Lab Endocrinol Celular &, Sao Paulo, SP, Brazil Univ Sao Paulo, Hosp Clin Univ Sao Paulo, Hosp Clin, Unidade Endocrinol Genet,Lab Endocrinol Celular &, Sao Paulo, SP, BrazilCellin, Laurana de Polli论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Hosp Clin Univ Sao Paulo, Hosp Clin, Unidade Endocrinol Genet,Lab Endocrinol Celular &, Sao Paulo, SP, Brazil Univ Sao Paulo, Hosp Clin Univ Sao Paulo, Hosp Clin, Unidade Endocrinol Genet,Lab Endocrinol Celular &, Sao Paulo, SP, BrazilKrepischi, Ana Cristina Victorino论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Inst Biosci, Human Genome & Stem Cell Res Ctr, Sao Paulo, SP, Brazil Univ Sao Paulo, Hosp Clin Univ Sao Paulo, Hosp Clin, Unidade Endocrinol Genet,Lab Endocrinol Celular &, Sao Paulo, SP, Brazil论文数: 引用数: h-index:机构:Jorge, Alexander Augusto de Lima论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Hosp Clin Univ Sao Paulo, Hosp Clin, Unidade Endocrinol Genet,Lab Endocrinol Celular &, Sao Paulo, SP, Brazil Ave Dr Arnaldo 455,5 Andar,Sala 5340, BR-01246903 Sao Paulo, SP, Brazil Univ Sao Paulo, Hosp Clin Univ Sao Paulo, Hosp Clin, Unidade Endocrinol Genet,Lab Endocrinol Celular &, Sao Paulo, SP, Brazil
- [37] Genetic Disorders in Prenatal Onset Syndromic Short Stature Identified by Exome SequencingJOURNAL OF PEDIATRICS, 2019, 215 : 192 - 198Homma, Thais Kataoka论文数: 0 引用数: 0 h-index: 0机构: FMUSP, Hosp Clin, Genet Endocrinol Unit, Lab Cellular & Mol Endocrinol LIM25, Sao Paulo, Brazil FMUSP, Hosp Clin Fac, Dev Endocrinol Unit, Lab Hormones & Mol Genet LIM42, Sao Paulo, Brazil FMUSP, Hosp Clin, Genet Endocrinol Unit, Lab Cellular & Mol Endocrinol LIM25, Sao Paulo, BrazilFreire, Bruna Lucheze论文数: 0 引用数: 0 h-index: 0机构: FMUSP, Hosp Clin, Genet Endocrinol Unit, Lab Cellular & Mol Endocrinol LIM25, Sao Paulo, Brazil FMUSP, Hosp Clin Fac, Dev Endocrinol Unit, Lab Hormones & Mol Genet LIM42, Sao Paulo, Brazil FMUSP, Hosp Clin, Genet Endocrinol Unit, Lab Cellular & Mol Endocrinol LIM25, Sao Paulo, BrazilHonjo Kawahira, Rachel Sayuri论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Hosp Clin, Inst Crianca, Fac Med,Genet Unit, Sao Paulo, Brazil FMUSP, Hosp Clin, Genet Endocrinol Unit, Lab Cellular & Mol Endocrinol LIM25, Sao Paulo, BrazilDauber, Andrew论文数: 0 引用数: 0 h-index: 0机构: Childrens Natl Hlth Syst, Div Endocrinol, Washington, DC USA FMUSP, Hosp Clin, Genet Endocrinol Unit, Lab Cellular & Mol Endocrinol LIM25, Sao Paulo, Brazilde Assis Funari, Mariana Ferreira论文数: 0 引用数: 0 h-index: 0机构: FMUSP, Hosp Clin Fac, Dev Endocrinol Unit, Lab Hormones & Mol Genet LIM42, Sao Paulo, Brazil FMUSP, Hosp Clin, Genet Endocrinol Unit, Lab Cellular & Mol Endocrinol LIM25, Sao Paulo, Brazil论文数: 引用数: h-index:机构:Nishi, Mirian Yumie论文数: 0 引用数: 0 h-index: 0机构: FMUSP, Hosp Clin Fac, Dev Endocrinol Unit, Lab Hormones & Mol Genet LIM42, Sao Paulo, Brazil FMUSP, Hosp Clin, Genet Endocrinol Unit, Lab Cellular & Mol Endocrinol LIM25, Sao Paulo, Brazilde Albuquerque, Edoarda Vasco论文数: 0 引用数: 0 h-index: 0机构: FMUSP, Hosp Clin, Genet Endocrinol Unit, Lab Cellular & Mol Endocrinol LIM25, Sao Paulo, Brazil FMUSP, Hosp Clin, Genet Endocrinol Unit, Lab Cellular & Mol Endocrinol LIM25, Sao Paulo, BrazilVasques, Gabriela de Andrade论文数: 0 引用数: 0 h-index: 0机构: FMUSP, Hosp Clin, Genet Endocrinol Unit, Lab Cellular & Mol Endocrinol LIM25, Sao Paulo, Brazil FMUSP, Hosp Clin, Genet Endocrinol Unit, Lab Cellular & Mol Endocrinol LIM25, Sao Paulo, BrazilCollett-Solberg, Paulo Ferrez论文数: 0 引用数: 0 h-index: 0机构: Univ Estado Rio de Janeiro, Fac Ciencia Med, Endocrinol Discipline, Rio De Janeiro, Brazil FMUSP, Hosp Clin, Genet Endocrinol Unit, Lab Cellular & Mol Endocrinol LIM25, Sao Paulo, BrazilMiura Sugayama, Sofia Mizuho论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Hosp Clin, Inst Crianca, Fac Med,Genet Unit, Sao Paulo, Brazil FMUSP, Hosp Clin, Genet Endocrinol Unit, Lab Cellular & Mol Endocrinol LIM25, Sao Paulo, BrazilBertola, Debora Romeo论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Hosp Clin, Inst Crianca, Fac Med,Genet Unit, Sao Paulo, Brazil FMUSP, Hosp Clin, Genet Endocrinol Unit, Lab Cellular & Mol Endocrinol LIM25, Sao Paulo, BrazilKim, Chong Ae论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Hosp Clin, Inst Crianca, Fac Med,Genet Unit, Sao Paulo, Brazil FMUSP, Hosp Clin, Genet Endocrinol Unit, Lab Cellular & Mol Endocrinol LIM25, Sao Paulo, BrazilPrado Arnhold, Ivo Jorge论文数: 0 引用数: 0 h-index: 0机构: FMUSP, Hosp Clin Fac, Dev Endocrinol Unit, Lab Hormones & Mol Genet LIM42, Sao Paulo, Brazil FMUSP, Hosp Clin, Genet Endocrinol Unit, Lab Cellular & Mol Endocrinol LIM25, Sao Paulo, BrazilMalaquias, Alexsandra Christianne论文数: 0 引用数: 0 h-index: 0机构: FMUSP, Hosp Clin, Genet Endocrinol Unit, Lab Cellular & Mol Endocrinol LIM25, Sao Paulo, Brazil Fac Ciencias Med Santa Casa Sao Paulo, Irmandade Santa Casa Misericordia Sao Paulo, Dept Pediat, Pediat Endocrinol Unit, Sao Paulo, SP, Brazil FMUSP, Hosp Clin, Genet Endocrinol Unit, Lab Cellular & Mol Endocrinol LIM25, Sao Paulo, Brazilde Lima Jorge, Alexander Augusto论文数: 0 引用数: 0 h-index: 0机构: FMUSP, Hosp Clin, Genet Endocrinol Unit, Lab Cellular & Mol Endocrinol LIM25, Sao Paulo, Brazil FMUSP, Hosp Clin Fac, Dev Endocrinol Unit, Lab Hormones & Mol Genet LIM42, Sao Paulo, Brazil FMUSP, Hosp Clin, Genet Endocrinol Unit, Lab Cellular & Mol Endocrinol LIM25, Sao Paulo, Brazil
- [38] Diagnostics of rare disorders: whole-exome sequencing deciphering locus heterogeneity in telomere biology disordersORPHANET JOURNAL OF RARE DISEASES, 2018, 13论文数: 引用数: h-index:机构:Norberg, Anna论文数: 0 引用数: 0 h-index: 0机构: Umea Univ, Dept Med Biosci Med & Clin Genet, Bldg 6M, SE-90187 Umea, Sweden Univ Helsinki, HiLIFE, Inst Mol Med Finland FIMM, POB 281, FI-0029 Helsinki, Finland论文数: 引用数: h-index:机构:Beziat, Vivien论文数: 0 引用数: 0 h-index: 0机构: Necker Hosp Sick Children, Necker Branch, Lab Human Genet Infect Dis, INSERM,U1163, Paris, France Paris Descartes Univ, Imagine Inst, 24 Blvd Montparnasse, F-75015 Paris, EU, France Univ Helsinki, HiLIFE, Inst Mol Med Finland FIMM, POB 281, FI-0029 Helsinki, FinlandDegerman, Sofie论文数: 0 引用数: 0 h-index: 0机构: Umea Univ, NUS, Dept Med Biosci M21, Dept Med Biosci,Pathol, S-90185 Umea, Sweden Univ Helsinki, HiLIFE, Inst Mol Med Finland FIMM, POB 281, FI-0029 Helsinki, Finland论文数: 引用数: h-index:机构:Valimaa, Hannamari论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Fac Med, Dept Virol, POB 21, Helsinki 00014, Finland Univ Helsinki, Fac Med, Dept Oral & Maxillofacial Surg, POB 21, Helsinki 00014, Finland Helsinki Univ Hosp, POB 21, Helsinki 00014, Finland Univ Helsinki, HiLIFE, Inst Mol Med Finland FIMM, POB 281, FI-0029 Helsinki, Finland论文数: 引用数: h-index:机构:Casanova, Jean-Laurent论文数: 0 引用数: 0 h-index: 0机构: Necker Hosp Sick Children, Necker Branch, Lab Human Genet Infect Dis, INSERM,U1163, Paris, France Paris Descartes Univ, Imagine Inst, 24 Blvd Montparnasse, F-75015 Paris, EU, France Rockefeller Univ, Rockefeller Branch, St Giles Lab Human Genet Infect Dis, New York, NY 10065 USA Necker Hosp Sick Children, Pediat Hematol Immunol Unit, Paris, France Howard Hughes Med Inst, New York, NY USA Univ Helsinki, HiLIFE, Inst Mol Med Finland FIMM, POB 281, FI-0029 Helsinki, FinlandSeppanen, Mikko论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Childrens Hosp, Rare Dis Ctr, Helsinki, Finland Helsinki Univ Hosp, Helsinki, Finland Univ Helsinki, Inflammat Ctr, Dept Infect Dis, Adult Immunodeficiency Unit, Helsinki, Finland Univ Helsinki, HiLIFE, Inst Mol Med Finland FIMM, POB 281, FI-0029 Helsinki, FinlandSaarela, Janna论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, HiLIFE, Inst Mol Med Finland FIMM, POB 281, FI-0029 Helsinki, Finland Univ Helsinki, HiLIFE, Inst Mol Med Finland FIMM, POB 281, FI-0029 Helsinki, Finland论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:
- [39] The utility of whole exome sequencing in accurate genetic diagnosis of neuromuscular disorders in IranEUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 1104 - 1104Molaei, Negar论文数: 0 引用数: 0 h-index: 0机构: Kariminejad Najmabadi Pathol & Genet Ctr, Tehran, Iran Univ Social Welf & Rehabil Sci, Genet Res Ctr, Tehran, Iran Kariminejad Najmabadi Pathol & Genet Ctr, Tehran, IranAhangari, Fatemeh论文数: 0 引用数: 0 h-index: 0机构: Kariminejad Najmabadi Pathol & Genet Ctr, Tehran, Iran Kariminejad Najmabadi Pathol & Genet Ctr, Tehran, IranBeheshtian, Maryam论文数: 0 引用数: 0 h-index: 0机构: Kariminejad Najmabadi Pathol & Genet Ctr, Tehran, Iran Kariminejad Najmabadi Pathol & Genet Ctr, Tehran, IranAlagha, Parnian论文数: 0 引用数: 0 h-index: 0机构: Kariminejad Najmabadi Pathol & Genet Ctr, Tehran, Iran Univ Social Welf & Rehabil Sci, Genet Res Ctr, Tehran, Iran Kariminejad Najmabadi Pathol & Genet Ctr, Tehran, IranDehdahsi, Shima论文数: 0 引用数: 0 h-index: 0机构: Kariminejad Najmabadi Pathol & Genet Ctr, Tehran, Iran Kariminejad Najmabadi Pathol & Genet Ctr, Tehran, IranFadaie, Mahsa论文数: 0 引用数: 0 h-index: 0机构: Kariminejad Najmabadi Pathol & Genet Ctr, Tehran, Iran Kariminejad Najmabadi Pathol & Genet Ctr, Tehran, IranAshki, Mehri论文数: 0 引用数: 0 h-index: 0机构: Kariminejad Najmabadi Pathol & Genet Ctr, Tehran, Iran Kariminejad Najmabadi Pathol & Genet Ctr, Tehran, IranElahi, Zohreh论文数: 0 引用数: 0 h-index: 0机构: Kariminejad Najmabadi Pathol & Genet Ctr, Tehran, Iran Kariminejad Najmabadi Pathol & Genet Ctr, Tehran, IranMozaffarpour, Maryam论文数: 0 引用数: 0 h-index: 0机构: Kariminejad Najmabadi Pathol & Genet Ctr, Tehran, Iran Kariminejad Najmabadi Pathol & Genet Ctr, Tehran, IranSaei, Parishad论文数: 0 引用数: 0 h-index: 0机构: Kariminejad Najmabadi Pathol & Genet Ctr, Tehran, Iran Kariminejad Najmabadi Pathol & Genet Ctr, Tehran, IranFatehi, Fatemeh论文数: 0 引用数: 0 h-index: 0机构: Kariminejad Najmabadi Pathol & Genet Ctr, Tehran, Iran Kariminejad Najmabadi Pathol & Genet Ctr, Tehran, IranNoudehi, Khadijeh论文数: 0 引用数: 0 h-index: 0机构: Kariminejad Najmabadi Pathol & Genet Ctr, Tehran, Iran Kariminejad Najmabadi Pathol & Genet Ctr, Tehran, IranNajafabadi, Shima Zamanian论文数: 0 引用数: 0 h-index: 0机构: Kariminejad Najmabadi Pathol & Genet Ctr, Tehran, Iran Kariminejad Najmabadi Pathol & Genet Ctr, Tehran, IranKahrizi, Kimia论文数: 0 引用数: 0 h-index: 0机构: Univ Social Welf & Rehabil Sci, Genet Res Ctr, Tehran, Iran Kariminejad Najmabadi Pathol & Genet Ctr, Tehran, IranKariminejad, Ariana论文数: 0 引用数: 0 h-index: 0机构: Kariminejad Najmabadi Pathol & Genet Ctr, Tehran, Iran Kariminejad Najmabadi Pathol & Genet Ctr, Tehran, IranNajmabadi, Hossein论文数: 0 引用数: 0 h-index: 0机构: Kariminejad Najmabadi Pathol & Genet Ctr, Tehran, Iran Univ Social Welf & Rehabil Sci, Genet Res Ctr, Tehran, Iran Kariminejad Najmabadi Pathol & Genet Ctr, Tehran, Iran
- [40] Clinical and genetic findings in autism spectrum disorders analyzed using exome sequencingFRONTIERS IN PSYCHIATRY, 2025, 16Blazquez, Ana论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Barcelona, Inst Neurosci, Dept Child & Adolescent Psychiat & Psychol, Barcelona, Spain Inst Invest Biomed August Pi & Sunyer IDIBAPS, Child & Adolescent Psychiat & Psychol Res Grp, Barcelona, Spain Univ Barcelona, Dept Basic Clinal Practice, Pharmacol Unit, Barcelona, Spain Hosp Clin Barcelona, Inst Neurosci, Dept Child & Adolescent Psychiat & Psychol, Barcelona, SpainRodriguez-Revenga, Laia论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Barcelona, Dept Biochem & Mol Genet, Barcelona, Spain Inst Invest Biomed August Pi & Sunyer IDIBAPS, Translat Res Grp New Therapeut & Diagnost Strategi, Barcelona, Spain Inst Salud Carlos III, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Madrid, Spain Hosp Clin Barcelona, Inst Neurosci, Dept Child & Adolescent Psychiat & Psychol, Barcelona, SpainAlvarez-Mora, Maria I.论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Barcelona, Dept Biochem & Mol Genet, Barcelona, Spain Inst Invest Biomed August Pi & Sunyer IDIBAPS, Translat Res Grp New Therapeut & Diagnost Strategi, Barcelona, Spain Inst Salud Carlos III, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Madrid, Spain Hosp Clin Barcelona, Inst Neurosci, Dept Child & Adolescent Psychiat & Psychol, Barcelona, SpainCalvo, Rosa论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Barcelona, Inst Neurosci, Dept Child & Adolescent Psychiat & Psychol, Barcelona, Spain Inst Invest Biomed August Pi & Sunyer IDIBAPS, Child & Adolescent Psychiat & Psychol Res Grp, Barcelona, Spain Univ Barcelona, Dept Med, Barcelona, Spain Inst Salud Carlos III, Ctr Invest Biomed Red Salud Mental CIBERSAM, Madrid, Spain Hosp Clin Barcelona, Inst Neurosci, Dept Child & Adolescent Psychiat & Psychol, Barcelona, Spain