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Research Interests

Papers共 39 篇Author StatisticsCo-AuthorSimilar Experts

By YearBy Citation主题筛选期刊级别筛选合作者筛选合作机构筛选
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Bi-allelic Variants in SPATA5L1 Lead to Intellectual Disability, Spastic-Dystonic Cerebral Palsy, Epilepsy, and Hearing Loss
Elodie M. Richard,Somayeh Bakhtiari,Ashley P. L. Marsh,Rauan Kaiyrzhanov,Matias Wagner,Sheetal Shetty,Alex Pagnozzi,Sandra M. Nordlie,Brandon S. Guida,Patricia Cornejo,Helen Magee,James Liu,Bethany Y. Norton, Richard Webster,Lisa Worgan,Hakon Hakonarson,Jiankang Li,Yiran Guo,Mahim Jain,Alyssa Blesson,Lance H. Rodan,Mary-Alice Abbott,Anne Comi,Julie S. Cohen,Bader Alhaddad,Thomas Meitinger,Dominic Lenz,Andreas Ziegler,Urania Kotzaeridou,Theresa Brunet,Anna Chassevent,Constance Smith-Hicks,Joseph Ekstein,Tzvi Weiden,Andreas Hahn,Nazira Zharkinbekova,Peter Turnpenny,Arianna Tucci,Melissa Yelton,Rita Horvath,Serdal Gungor,Semra Hiz,Yavuz Oktay,Hanns Lochmuller,Marcella Zollino, ManuelaMorleo,Giuseppe Marangi,Vincenzo Nigro,Annalaura Torella,Michele Pinelli,Simona Amenta,Ralf A. Husain,Benita Grossmann,Marion Rapp,Claudia Steen,Iris Marquardt,Mona Grimmel,Ute Grasshoff,G. Christoph Korenke,Marta Owczarek-Lipska,John Neidhardt,Francesca Clementinac Radio,Cecilia Mancini, Dianela Judith Claps Sepulveda,Kirsty Mc Walter,Amber Begtrup,Amy Crunk,Maria J. Guillen Sacoto,Richard Person,Rhonda E. Schnur,Maria Margherita Mancardi,Florian Kreuder,Pasquale Striano,Federico Zara,Wendy K. Chung,Warren A. Marks,Clare L. van Eyk,Dani L. Webber,Mark A. Corbett,Kelly Harper,Jesia G. Berry, Alastair H. Mac Lennan,Jozef Gecz,Marco Tartaglia,Vincenzo Salpietro,John Christodoulou,Jan Kaslin,Sergio Padilla-Lopez,Kaya Bilguvar,Alexander Munchau,Zubair M. Ahmed,Robert B. Hufnagel,Michael C. Fahey,Reza Maroofian,Henry Houlden,Heinrich Sticht,Shrikant M. Mane, Aboulfaz LRad,Barbara Vona,Sheng Chih Jin,Tobias B. Haack,Christine Makowski,Yoel Hirsch,Saima Riazuddin,Michael C. Kruer
The American Journal of Human Genetics（2021）
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Author Statistics

#Papers: 39

#Citation: 1972

H-Index: 22

G-Index: 33

Sociability: 6

Diversity: 2

Activity: 3

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