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Research Interests

Papers共 74 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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DLG4-related Synaptopathy: a New Rare Brain Disorder
Agustí Rodríguez-Palmero,Melissa Maria Boerrigter,David Gómez-Andrés,Kimberly A. Aldinger,Íñigo Marcos-Alcalde,Bernt Popp,David B. Everman,Alysia Kern Lovgren,Stephanie Arpin,Vahid Bahrambeigi,Gea Beunders,Anne-Marie Bisgaard,V. A. Bjerregaard,Ange-Line Bruel,Thomas D. Challman,Benjamin Cogné,Christine Coubes,Stella A. de Man,Anne-Sophie Denommé-Pichon,Thomas J. Dye,Frances Elmslie,Lars Feuk,Sixto García-Miñaúr,Tracy Gertler,Elisa Giorgio,Nicolas Gruchy,Tobias B. Haack,Chad R. Haldeman-Englert,Bjørn Ivar Haukanes,Juliane Hoyer,Anna C. E. Hurst,Bertrand Isidor,Maria Johansson Soller,Sulagna Kushary,Malin Kvarnung,Yuval E. Landau,Kathleen A. Leppig,Anna Lindstrand,Lotte Kleinendorst,Alex MacKenzie,Giorgia Mandrile,Bryce A. Mendelsohn,Setareh Moghadasi,Jenny E. Morton,Sebastien Moutton,Amelie J. Müller,Melanie O’Leary,Marta Pacio-Míguez,Maria Palomares-Bralo,Sumit Parikh,Rolph Pfundt,Ben Pode-Shakked,Anita Rauch,Elena Repnikova,Anya Revah-Politi,Meredith J. Ross,Claudia A. L. Ruivenkamp,Elisabeth Sarrazin,Juliann M. Savatt,Agatha Schlüter,Bitten Schönewolf-Greulich,Zohra Shad,Charles Shaw-Smith,Joseph T. Shieh, Motti Shohat,Stephanie Spranger,Heidi Thiese,Frederic Tran Mau-Them,Bregje van Bon, Ineke van de Burgt,Ingrid M. B. H. van de Laar, Esmée van Drie,Mieke M. van Haelst,Conny M. van Ravenswaaij-Arts,Edgard Verdura,Antonio Vitobello,Stephan Waldmüller,Sharon Whiting,Christiane Zweier,Carlos E. Prada,Bert B. A. de Vries,William B. Dobyns,Simone F. Reiter,Paulino Gómez-Puertas,Aurora Pujol,Zeynep Tümer
Genetics in medicine（2021）
Cited11Views0WOSBibtex
11
0
2018-1105 CHD 3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
Y. Crow, D. Mariella, Alessandro,T. Dabir,R. Davidson,S. Davies,Dylan H. de Vries, J. Dean,C. Deshpande,G. Devlin,A. Dixit,A. Dobbie,A. Donaldson,D. Donnai,D. Donnelly, C. Donnelly,A. Douglas, A. Duncan,J. Eason,S. Ellard,I. Ellis,F. Elmslie, K. Evans,S. Everest, T. Fendick,R. Fisher,F. Flinter,N. Foulds,A. Fry,A. Fryer,C. Gardiner,L. Gaunt,N. Ghali,R. Gibbons,H. Gill,J. Goodship, D. Goudie,Emma V. Gray,A. Green,P. Greene,L. Greenhalgh,S. Gribble,R. Harrison,L. Harrison,V. Harrison,R. Hawkins,Liu He,S. Hellens,A. Henderson,S. Hewitt,Lucy Hildyard,E. Hobson,S. Holden,M. Holder,S. Holder,G. Hollingsworth,T. Homfray,M. Humphreys,J. Hurst,Ben Hutton,S. Ingram,M. Irving,L. Islam,Andrew Jackson,J. Jarvis,L. Jenkins,Diana S. Johnson,E. Jones,D. Josifova,S. Joss, B. Kaemba, S. Kazembe,R. Kelsell,B. Kerr,H. Kingston,U. Kini,E. Kinning,G. Kirby,C. Kirk,E. Kivuva,A. Kraus,Dhavendra Kumar,V. K. A. Kumar,K. Lachlan,W. Lam,A. Lampe, C. Langman,M. Lees,D. Lim, C. Longman,G. Lowther,S. Lynch,A. Magee,E. Maher,Alison M. Male,S. Mansour,K. Marks,K. Martin, U. Maye,E. McCann,V. Mcconnell,M. McEntagart,R. McGowan,K. McKay,S. McKee,D. McMullan,S. Mcnerlan,C. Mcwilliam,S. Mehta,K. Metcalfe,A. Middleton,Z. Miedzybrodzka,E. Miles,S. Mohammed,T. Montgomery,D. Moore,S. Morgan,J. Morton,H. Mugalaasi,V. Murday,Helen R Murphy,S. Naik,A. Nemeth,L. Nevitt,A. Norman, O. Rosie, Shea,C. Ogilvie,K. Ong,Soo-Mi Park,M. Parker,C. Patel,J. Paterson,S. Payne,D. Perrett,J. Phipps,D. Pilz,M. Pollard,C. Pottinger,J. Poulton,N. Pratt,K. Prescott, A. Pridham,A. Procter, H. Purnell,O. Quarrell,N. Ragge,R. Rahbari, J. Randall,L. Raymond,D. Rice,L. Robert,E. Roberts,Jonathan Roberts,P. Roberts,G. Roberts,A. Ross,E. Rosser,A. Saggar,S. Samant,J. Sampson,R. Sandford,A. Sarkar,S. Schweiger,R. Scott,I. Scurr,A. Selby,A. Seller, C. Sequeira,N. Shannon,S. Sharif,C. Shaw-Smith,E. Shearing,D. Shears,E. Sheridan,I. Simonic,R. Singzon,Z. Skitt,Audrey Smith,Kath Smith,S. Smithson,L. Sneddon,M. Splitt,M. Squires,F. Stewart,H. Stewart,V. Straub, M. Suri,V. Sutton,G. Swaminathan,E. Sweeney,K. Tatton-Brown, Cat Taylor,Rohan Taylor,M. Tein,I. Temple,J. Thomson,M. Tischkowitz,S. Tomkins, A. Torokwa,B. Treacy,C. Turner,P. Turnpenny,C. Tysoe, A. Vandersteen,V. Varghese,P. Vasudevan,Parthiban Vijayarangakannan,J. Vogt,E. Wakeling,Sarah Wallwark, J. Waters,A. Weber,D. Wellesley,M. Whiteford,S. Widaa,S. Wilcox, E. Wilkinson,Denise Williams,N. Williams,L. Wilson,G. Woods,C. Wragg,M. Wright,L. Yates,M. Parker,C. Wright,D. FitzPatrick
semanticscholar（2019）
Cited57Views0Bibtex
57
0
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Author Statistics

#Papers: 74

#Citation: 6038

H-Index: 28

G-Index: 58

Sociability: 7

Diversity: 3

Activity: 2

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