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Papers共 20 篇Author StatisticsCo-AuthorSimilar Experts

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BCL11A Intellectual Developmental Disorder: Defining the Clinical Spectrum and Genotype-Phenotype Correlations
Angela Peron,Felice D'Arco,Kimberly A Aldinger,Constance Smith-Hicks,Christiane Zweier,Gyri A Gradek,Kimberley Bradbury,Andrea Accogli,Erica F Andersen,Ping Yee Billie Au,Roberta Battini,Daniah Beleford,Lynne M Bird,Arjan Bouman,Ange-Line Bruel,Øyvind Løvold Busk,Philippe M Campeau,Valeria Capra,Colleen Carlston,Jenny Carmichael,Anna Chassevent,Jill Clayton-Smith,Michael J Bamshad,Dawn L Earl,Laurence Faivre,Christophe Philippe, Patrick Ferreira,Luitgard Graul-Neumann, Mary J Green, Darrah Haffner,Parthiv Haldipur, Suhair Hanna,Gunnar Houge, Wendy D Jones,Cornelia Kraus, Birgit Elisabeth Kristiansen,James Lespinasse,Karen J Low,Sally Ann Lynch,Sofia Maia,Rong Mao, Ruta Kalinauskiene,Catherine Melver,Kimberly McDonald,Tara Montgomery,Manuela Morleo,Constance Motter,Amanda S Openshaw,Janice Cox Palumbos,Aditi Shah Parikh, Yezmin Perilla-Young, Cynthia M Powell,Richard Person,Megha Desai,Juliette Piard,Rolph Pfundt,Marcello Scala,Margaux Serey-Gaut, Deborah Shears,Anne Slavotinek,Mohnish Suri,Claire Turner,Tatiana Tvrdik,Karin Weiss,Ingrid M Wentzensen,Marcella Zollino, Tzung-Chien Hsieh, CRCD Research Group, Telethon Undiagnosed Disease Program (TUDP), University of Washington Center for Mendelian Genomics (UW-CMG),Bert B A de Vries,Francois Guillemot,William B Dobyns,David Viskochil,Cristina Dias
European journal of human genetics EJHG（2024）
Cited2Views0WOSNATUREBibtex
2
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MSL2 Variants Lead to a Neurodevelopmental Syndrome with Lack of Coordination, Epilepsy, Specific Dysmorphisms, and a Distinct Episignature
Remzi Karayol, Maria Carla Borroto,Sadegheh Haghshenas, Anoja Namasivayam,Jack Reilly,Michael A. Levy,Raissa Relator,Jennifer Kerkhof,Haley Mcconkey,Maria Shvedunova,Andrea K. Petersen, Kari Magnussen,Christiane Zweier,Georgia Vasileiou,Andre Reis,Juliann M. Savatt, Meghan R. Mulligan,Louise S. Bicknell,Gemma Poke,Aya Abu-El-Haija,Jessica Duis, Vickie Hannig,Siddharth Srivastava, Elizabeth Barkoudah, Natalie s. Hauser, Myrthe van den Born,Uri Hamiel,Noa Henig, Hagit Baris Feldman, Shane Mckee, Ingrid P. C. Krapels,Yunping Lei, Albena Todorova,Ralitsa Yordanova,Slavena Atemin, Mihael Rogac, Vivienne Mcconnell,Anna Chassevent, Kristin W. Baranano,Vandana Shashi,Jennifer A. Sullivan,Angela Peron,Maria Iascone, Maria P. Canevini, Jennifer Friedman, Iris A. Reyes, Janell Kierstein,Joseph J. Shen, Faria N. Ahmed, Xiao Mao, Berta Almoguera, Fiona Blanco-Kelly,Konrad Platzer, Ariana-Berenike Treu, Juliette Quilichini, Alexia Bourgois,Nicolas Chatron,Louis Januel, Christelle Rougeot, Deanna Alexis Carere,Kristin G. Monaghan,Justine Rousseau,Kenneth A. Myers, Bekim Sadikovic,Asifa Akhtar, Philippe M. Campeau
AMERICAN JOURNAL OF HUMAN GENETICSno. 7 (2024)
Cited0Views0WOSBibtex
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Author Statistics

#Papers: 21

#Citation: 122

H-Index: 6

G-Index: 10

Sociability: 6

Diversity: 2

Activity: 20

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