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- [1] Expanding the Phenotypic and Genotypic Spectrum in Yao Syndrome[J]. ARTHRITIS & RHEUMATOLOGY, 2019, 71Yao, Qingping论文数: 0 引用数: 0 h-index: 0机构: SUNY Stony Brook, Stony Brook, NY 11794 USA SUNY Stony Brook, Stony Brook, NY 11794 USAKontzias, Apostolos论文数: 0 引用数: 0 h-index: 0机构: SUNY Stony Brook, Stony Brook, NY 11794 USA SUNY Stony Brook, Stony Brook, NY 11794 USA
- [2] Expanding the Phenotypic and Genotypic Spectrum of Bietti Crystalline Dystrophy[J]. GENES, 2021, 12 (05)da Palma, Mariana Matioli论文数: 0 引用数: 0 h-index: 0机构: Fed Univ Sao Paulo UNIFESP, Dept Ophthalmol, BR-04023062 Sao Paulo, SP, Brazil Inst Genet Ocular, BR-04552050 Sao Paulo, SP, Brazil Inst Suel Abujamra, BR-01525001 Sao Paulo, SP, Brazil Univ Barcelona, Sch Med, Dept Surg, Barcelona 08007, Spain Univ Barcelona, Sch Med, Hosp Cin Barcelona, Barcelona 08007, Spain Fed Univ Sao Paulo UNIFESP, Dept Ophthalmol, BR-04023062 Sao Paulo, SP, BrazilMotta, Fabiana Louise论文数: 0 引用数: 0 h-index: 0机构: Fed Univ Sao Paulo UNIFESP, Dept Ophthalmol, BR-04023062 Sao Paulo, SP, Brazil Inst Genet Ocular, BR-04552050 Sao Paulo, SP, Brazil Fed Univ Sao Paulo UNIFESP, Dept Ophthalmol, BR-04023062 Sao Paulo, SP, BrazilSalles, Mariana Vallim论文数: 0 引用数: 0 h-index: 0机构: Fed Univ Sao Paulo UNIFESP, Dept Ophthalmol, BR-04023062 Sao Paulo, SP, Brazil Inst Genet Ocular, BR-04552050 Sao Paulo, SP, Brazil Fed Univ Sao Paulo UNIFESP, Dept Ophthalmol, BR-04023062 Sao Paulo, SP, BrazilTexeira, Caio Henrique Marques论文数: 0 引用数: 0 h-index: 0机构: Fed Univ Sao Paulo UNIFESP, Dept Ophthalmol, BR-04023062 Sao Paulo, SP, Brazil Inst Genet Ocular, BR-04552050 Sao Paulo, SP, Brazil Fed Univ Sao Paulo UNIFESP, Dept Ophthalmol, BR-04023062 Sao Paulo, SP, BrazilGomes, Andre V.论文数: 0 引用数: 0 h-index: 0机构: Inst Suel Abujamra, BR-01525001 Sao Paulo, SP, Brazil Fed Univ Sao Paulo UNIFESP, Dept Ophthalmol, BR-04023062 Sao Paulo, SP, BrazilCasaroli-Marano, Ricardo论文数: 0 引用数: 0 h-index: 0机构: Fed Univ Sao Paulo UNIFESP, Dept Ophthalmol, BR-04023062 Sao Paulo, SP, Brazil Univ Barcelona, Sch Med, Dept Surg, Barcelona 08007, Spain Univ Barcelona, Sch Med, Hosp Cin Barcelona, Barcelona 08007, Spain Fed Univ Sao Paulo UNIFESP, Dept Ophthalmol, BR-04023062 Sao Paulo, SP, BrazilSallum, Juliana Maria Ferraz论文数: 0 引用数: 0 h-index: 0机构: Fed Univ Sao Paulo UNIFESP, Dept Ophthalmol, BR-04023062 Sao Paulo, SP, Brazil Inst Genet Ocular, BR-04552050 Sao Paulo, SP, Brazil Fed Univ Sao Paulo UNIFESP, Dept Ophthalmol, BR-04023062 Sao Paulo, SP, Brazil
- [3] Expanding the Phenotypic and Genotypic Spectrum of ARFGEF1-Related Neurodevelopmental Disorder[J]. FRONTIERS IN MOLECULAR NEUROSCIENCE, 2022, 15Xu, Lu论文数: 0 引用数: 0 h-index: 0机构: Zhejiang Univ, Childrens Hosp, Natl Clin Res Ctr Child Hlth, Dept Neurol,Sch Med, Hangzhou, Peoples R China Zhejiang Univ, Childrens Hosp, Natl Clin Res Ctr Child Hlth, Dept Neurol,Sch Med, Hangzhou, Peoples R ChinaZhou, Youfeng论文数: 0 引用数: 0 h-index: 0机构: Affiliated Hosp Fujian Med Univ, Fujian Prov Matern & Childrens Hosp, Dept Pediat, Fuzhou, Peoples R China Zhejiang Univ, Childrens Hosp, Natl Clin Res Ctr Child Hlth, Dept Neurol,Sch Med, Hangzhou, Peoples R ChinaRen, Xiaoyan论文数: 0 引用数: 0 h-index: 0机构: Zhejiang Univ, Childrens Hosp, Natl Clin Res Ctr Child Hlth, Dept Neurol,Sch Med, Hangzhou, Peoples R China Zhejiang Univ, Childrens Hosp, Natl Clin Res Ctr Child Hlth, Dept Neurol,Sch Med, Hangzhou, Peoples R ChinaXu, Chenlu论文数: 0 引用数: 0 h-index: 0机构: Beijing Chigene Translat Med Res Ctr Co Ltd, Beijing, Peoples R China Zhejiang Univ, Childrens Hosp, Natl Clin Res Ctr Child Hlth, Dept Neurol,Sch Med, Hangzhou, Peoples R ChinaRen, Rongna论文数: 0 引用数: 0 h-index: 0机构: 900 Hosp Joint Logist Team, Dept Pediat & Neurosurg, Fuzhou, Peoples R China Zhejiang Univ, Childrens Hosp, Natl Clin Res Ctr Child Hlth, Dept Neurol,Sch Med, Hangzhou, Peoples R ChinaYan, Xuke论文数: 0 引用数: 0 h-index: 0机构: Zhejiang Univ, Childrens Hosp, Natl Clin Res Ctr Child Hlth, Dept Neurol,Sch Med, Hangzhou, Peoples R China Zhejiang Univ, Childrens Hosp, Natl Clin Res Ctr Child Hlth, Dept Neurol,Sch Med, Hangzhou, Peoples R ChinaLi, Xuelian论文数: 0 引用数: 0 h-index: 0机构: Anhui Prov Childrens Hosp, Dept Pediat Neurol, Hefei, Peoples R China Zhejiang Univ, Childrens Hosp, Natl Clin Res Ctr Child Hlth, Dept Neurol,Sch Med, Hangzhou, Peoples R ChinaYang, Huimin论文数: 0 引用数: 0 h-index: 0机构: Inner Mongolia Maternal & Child Hlth Care Hosp, Dept Pediat, Hohhot, Peoples R China Zhejiang Univ, Childrens Hosp, Natl Clin Res Ctr Child Hlth, Dept Neurol,Sch Med, Hangzhou, Peoples R ChinaXu, Xuebin论文数: 0 引用数: 0 h-index: 0机构: Zhejiang Univ, Childrens Hosp, Natl Clin Res Ctr Child Hlth, Dept Neurol,Sch Med, Hangzhou, Peoples R China Zhejiang Univ, Childrens Hosp, Natl Clin Res Ctr Child Hlth, Dept Neurol,Sch Med, Hangzhou, Peoples R ChinaGuo, Xiaotong论文数: 0 引用数: 0 h-index: 0机构: Zhejiang Univ, Childrens Hosp, Natl Clin Res Ctr Child Hlth, Dept Neurol,Sch Med, Hangzhou, Peoples R China Zhejiang Univ, Childrens Hosp, Natl Clin Res Ctr Child Hlth, Dept Neurol,Sch Med, Hangzhou, Peoples R ChinaSheng, Guoxia论文数: 0 引用数: 0 h-index: 0机构: Zhejiang Univ, Childrens Hosp, Natl Clin Res Ctr Child Hlth, Dept Neurol,Sch Med, Hangzhou, Peoples R China Zhejiang Univ, Childrens Hosp, Natl Clin Res Ctr Child Hlth, Dept Neurol,Sch Med, Hangzhou, Peoples R ChinaHua, Yi论文数: 0 引用数: 0 h-index: 0机构: Zhejiang Univ, Childrens Hosp, Natl Clin Res Ctr Child Hlth, Dept Neurol,Sch Med, Hangzhou, Peoples R China Zhejiang Univ, Childrens Hosp, Natl Clin Res Ctr Child Hlth, Dept Neurol,Sch Med, Hangzhou, Peoples R ChinaYuan, Zhefeng论文数: 0 引用数: 0 h-index: 0机构: Zhejiang Univ, Childrens Hosp, Natl Clin Res Ctr Child Hlth, Dept Neurol,Sch Med, Hangzhou, Peoples R China Zhejiang Univ, Childrens Hosp, Natl Clin Res Ctr Child Hlth, Dept Neurol,Sch Med, Hangzhou, Peoples R ChinaWang, Shugang论文数: 0 引用数: 0 h-index: 0机构: Beijing Chigene Translat Med Res Ctr Co Ltd, Beijing, Peoples R China Zhejiang Univ, Childrens Hosp, Natl Clin Res Ctr Child Hlth, Dept Neurol,Sch Med, Hangzhou, Peoples R ChinaGu, Weiyue论文数: 0 引用数: 0 h-index: 0机构: Beijing Chigene Translat Med Res Ctr Co Ltd, Beijing, Peoples R China Zhejiang Univ, Childrens Hosp, Natl Clin Res Ctr Child Hlth, Dept Neurol,Sch Med, Hangzhou, Peoples R ChinaSun, Dan论文数: 0 引用数: 0 h-index: 0机构: Huazhong Univ Sci & Technol, Wuhan Childrens Hosp, Tongji Med Coll, Dept Pediat Neurol, Wuhan, Peoples R China Zhejiang Univ, Childrens Hosp, Natl Clin Res Ctr Child Hlth, Dept Neurol,Sch Med, Hangzhou, Peoples R ChinaGao, Feng论文数: 0 引用数: 0 h-index: 0机构: Zhejiang Univ, Childrens Hosp, Natl Clin Res Ctr Child Hlth, Dept Neurol,Sch Med, Hangzhou, Peoples R China Zhejiang Univ, Childrens Hosp, Natl Clin Res Ctr Child Hlth, Dept Neurol,Sch Med, Hangzhou, Peoples R China
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HUMAN MUTATION, 2020, 41 (09) : 1615 - 1628Abdelfattah, Fatima论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Magdeburg, Inst Human Genet, Leipziger Str 44, D-39120 Magdeburg, Germany Univ Hosp Magdeburg, Inst Human Genet, Leipziger Str 44, D-39120 Magdeburg, GermanyKariminejad, Ariana论文数: 0 引用数: 0 h-index: 0机构: Kariminejad Najmabadi Pathol & Genet Ctr, Tehran, Iran Univ Hosp Magdeburg, Inst Human Genet, Leipziger Str 44, D-39120 Magdeburg, GermanyKahlert, AnneKarin论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Dresden, Med Fak Carl Gustav Carus, Inst Klin Genet, Dresden, Germany Univ Hosp Schleswig Holstein, Dept Congenital Heart Dis & Pediat Cardiol, Kiel, Germany Univ Hosp Magdeburg, Inst Human Genet, Leipziger Str 44, D-39120 Magdeburg, GermanyMorrison, Patrick J.论文数: 0 引用数: 0 h-index: 0机构: Queens Univ Belfast, Ctr Canc Res & Cell Biol, Belfast, Antrim, North Ireland Univ Hosp Magdeburg, Inst Human Genet, Leipziger Str 44, D-39120 Magdeburg, GermanyGumus, Evren论文数: 0 引用数: 0 h-index: 0机构: Harran Univ, Sch Med, Div Med Genet, Sanliurfa, Turkey Univ Hosp Magdeburg, Inst Human Genet, Leipziger Str 44, D-39120 Magdeburg, GermanyMathews, Katherine D.论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Carver Coll Med, Iowa City, IA USA Univ Hosp Magdeburg, Inst Human Genet, Leipziger Str 44, D-39120 Magdeburg, GermanyDarbro, Benjamin W.论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Carver Coll Med, Iowa City, IA USA Univ Hosp Magdeburg, Inst Human Genet, Leipziger Str 44, D-39120 Magdeburg, GermanyAmor, David J.论文数: 0 引用数: 0 h-index: 0机构: Royal Childrens Hosp, Murdoch Childrens Res Inst, Parkville, Vic, Australia Univ Melbourne, Dept Paediat, Melbourne, Vic, Australia Royal Childrens Hosp, Parkville, Vic, Australia Univ Hosp Magdeburg, Inst Human Genet, Leipziger Str 44, D-39120 Magdeburg, GermanyWalsh, Maie论文数: 0 引用数: 0 h-index: 0机构: Royal Childrens Hosp, Murdoch Childrens Res Inst, Parkville, Vic, Australia Univ Hosp Magdeburg, Inst Human Genet, Leipziger Str 44, D-39120 Magdeburg, GermanySznajer, Yves论文数: 0 引用数: 0 h-index: 0机构: Catholic Univ Louvain, Clin Univ St Luc, Ctr Genet Humaine, Brussels, Belgium Univ Hosp Magdeburg, Inst Human Genet, Leipziger Str 44, D-39120 Magdeburg, GermanyWeiss, Luisa论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Dresden, Med Fak Carl Gustav Carus, Inst Klin Genet, Dresden, Germany Univ Hosp Magdeburg, Inst Human Genet, Leipziger Str 44, D-39120 Magdeburg, GermanyWeidensee, Sabine论文数: 0 引用数: 0 h-index: 0机构: Human Med Genet, Erfurt, Germany Univ Hosp Magdeburg, Inst Human Genet, Leipziger Str 44, D-39120 Magdeburg, GermanyChitayat, David论文数: 0 引用数: 0 h-index: 0机构: Univ Toronto, Mt Sinai Hosp, Dept Obstet & Gynecol, Prenatal Diag & Med Genet Program, Toronto, ON, Canada Univ Toronto, Hosp SickKids, Div Clin & Metab Genet, Toronto, ON, Canada Univ Hosp Magdeburg, Inst Human Genet, Leipziger Str 44, D-39120 Magdeburg, GermanyShannon, Patrick论文数: 0 引用数: 0 h-index: 0机构: Univ Toronto, Mt Sinai Hosp, Dept Pathol & Lab Med, Toronto, ON, Canada Univ Hosp Magdeburg, Inst Human Genet, Leipziger Str 44, D-39120 Magdeburg, GermanyBermejo-Sanchez, Eva论文数: 0 引用数: 0 h-index: 0机构: Inst Hlth Carlos III, ECEMC Spanish Collaborat Study Congenital Malform, Res Unit Congenital Anomalies UIAC, Inst Rare Dis Res IIER,Minist Sci & Innovat, Madrid, Spain Univ Hosp Magdeburg, Inst Human Genet, Leipziger Str 44, D-39120 Magdeburg, GermanyRiano-Galan, Isolina论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Cent Asturias, AGC Pediat, Oviedo, Spain Univ Oviedo, Dept Med, IUOPA, ISPA, Oviedo, Spain CIBER Epidemiol & Salud Publ, Madrid, Spain Univ Hosp Magdeburg, Inst Human Genet, Leipziger Str 44, D-39120 Magdeburg, GermanyHayes, Ian论文数: 0 引用数: 0 h-index: 0机构: Auckland Hosp, Genet Hlth Serv New Zealand, Auckland, New Zealand Univ Hosp Magdeburg, Inst Human Genet, Leipziger Str 44, D-39120 Magdeburg, GermanyPoke, Gemma论文数: 0 引用数: 0 h-index: 0机构: Wellington Reg Hosp, Genet Hlth Serv New Zealand, Wellington, New Zealand Univ Hosp Magdeburg, Inst Human Genet, Leipziger Str 44, D-39120 Magdeburg, GermanyRooryck, Caroline论文数: 0 引用数: 0 h-index: 0机构: Univ Bordeaux, Serv Genet Med, CHU Bordeaux, MRGM,INSERM,U1211, Bordeaux, France Univ Hosp Magdeburg, Inst Human Genet, Leipziger Str 44, D-39120 Magdeburg, GermanyPennamen, Perrine论文数: 0 引用数: 0 h-index: 0机构: Univ Bordeaux, Serv Genet Med, CHU Bordeaux, MRGM,INSERM,U1211, Bordeaux, France Univ Hosp Magdeburg, Inst Human Genet, Leipziger Str 44, D-39120 Magdeburg, GermanyKhung-Savatovsky, Suonavy论文数: 0 引用数: 0 h-index: 0机构: Hop Univ Robert Debre, Unite Foetopathol, Paris, France Univ Hosp Magdeburg, Inst Human Genet, Leipziger Str 44, D-39120 Magdeburg, GermanyToutain, Annick论文数: 0 引用数: 0 h-index: 0机构: Univ Tours, INSERM, CHU Tours, UMR 1253,iBrain,Serv Genet, Tours, France Univ Hosp Magdeburg, Inst Human Genet, Leipziger Str 44, D-39120 Magdeburg, GermanyVuillaume, Marie-Laure论文数: 0 引用数: 0 h-index: 0机构: Univ Tours, INSERM, CHU Tours, UMR 1253,iBrain,Serv Genet, Tours, France Univ Hosp Magdeburg, Inst Human Genet, Leipziger Str 44, D-39120 Magdeburg, GermanyGhaderi-Sohi, Siavash论文数: 0 引用数: 0 h-index: 0机构: Kariminejad Najmabadi Pathol & Genet Ctr, Tehran, Iran Univ Hosp Magdeburg, Inst Human Genet, Leipziger Str 44, D-39120 Magdeburg, GermanyKariminejad, Mohamad H.论文数: 0 引用数: 0 h-index: 0机构: Kariminejad Najmabadi Pathol & Genet Ctr, Tehran, Iran Univ Hosp Magdeburg, Inst Human Genet, Leipziger Str 44, D-39120 Magdeburg, GermanyWeinert, Soenke论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Magdeburg, Dept Cardiol & Angiol, Internal Med, Magdeburg, Germany Univ Hosp Magdeburg, Inst Human Genet, Leipziger Str 44, D-39120 Magdeburg, GermanySticht, Heinrich论文数: 0 引用数: 0 h-index: 0机构: Friedrich Alexander Univ Erlangen Nurnberg, Inst Biochem, Erlangen, Germany Univ Hosp Magdeburg, Inst Human Genet, Leipziger Str 44, D-39120 Magdeburg, GermanyZenker, Martin论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Magdeburg, Inst Human Genet, Leipziger Str 44, D-39120 Magdeburg, Germany Univ Hosp Magdeburg, Inst Human Genet, Leipziger Str 44, D-39120 Magdeburg, GermanySchanze, Denny论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Magdeburg, Inst Human Genet, Leipziger Str 44, D-39120 Magdeburg, Germany Univ Hosp Magdeburg, Inst Human Genet, Leipziger Str 44, D-39120 Magdeburg, Germany
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