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Papers共 62 篇Author StatisticsCo-AuthorSimilar Experts

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Comprehensive Analysis of CNOT3-related Neurodevelopmental Disorders: Phenotypic and Genotypic Characterization
Camille Engel, Michaela Rendek, Jessica Assoumani,Emanuela Argilli,Francesca Ariani, Anne-Laude Avice-Denizet, Emilia K Bijlsmaa, Pierre Blanc, Lucia Pia Bruno,Bert Callewaert,Valeria Capra, Michele Carullo,Bertrand Chesneau,Sandra Coppens,Cynthia Curry,Breanne Dale, Eric Dahlen, Andrée Delahaye-Duriez, Anne-Sophie Denommé-Pichon,Bénédicte Demeer, Lenka Dvořáková, Jan Fischer,David Geneviève,Thea Giacomini, Mette M Handrup,Delphine Heron, Irina Hüning, Michelle Iacomino,Bertrand Isidor,Boris Keren,Stanislav Kmoch,David A Koolen, Andrea Kübler, Jana Laštůvková, Carolyn Le,Jonathan Levy, Caterina Lo Rizzo,Silvia Maitz,Sandrine Marlin,Cyril Mignot, Ghayda Mirzaa,Inga Nagel, Sebastian Neuens,Lenka Nosková,Emily Pao, Anna Pecková,Julie Plaisancie,Joseph Porrmann,Flavia Privitera,André Reis,Alessandra Renieri,Marlène Rio, Alyssa Rippert,Lukáš Ryba, Marcello Scala, Jolanda H Schieving,Elliott H Sherr, Andrew Shuen,Richard Sidlow, Thomas Smol,Julie Soblet,Pasquale Striano,Mohnish Suri, Hannes Syryn, Frédéric Tran Mau-Them, Andre M Travessa, Julien Van Gils,Georgia Vasileiou, Jolijn J A Verseput,Catheline Vilain,Catherine Vincent-Delorme,Emílie Vyhnálková, Emma L Wakeling,Pia Zacher,Federico Zara,Paul Kuentz,Juliette Piard
European journal of human genetics EJHG (2025)
Cited0Views0WOSBibtex
0
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Deleterious, Protein-Altering Variants in the Transcriptional Coregulator ZMYM3 in 27 Individuals with a Neurodevelopmental Delay Phenotype
Susan M. Hiatt,Slavica Trajkova,Matteo Rossi Sebastiano,E. Christopher Partridge,Fatima E. Abidi,Ashlyn Anderson,Muhammad Ansar,Stylianos E. Antonarakis,Azadeh Azadi,Ruxandra Bachmann-Gagescu,Andrea Bartuli,Caroline Benech,Jennifer L. Berkowitz,Michael J. Betti,Alfredo Brusco,Ashley Cannon,Giulia Caron,Yanmin Chen,Meagan E. Cochran,Tanner F. Coleman,Molly M. Crenshaw,Laurence Cuisset,Cynthia J. Curry,Hossein Darvish,Serwet Demirdas,Maria Descartes,Jessica Douglas,David A. Dyment,Houda Zghal Elloumi,Giuseppe Ermondi,Marie Faoucher,Emily G. Farrow,Stephanie A. Felker,Heather Fisher,Anna C. E. Hurst,Pascal Joset,Melissa A. Kelly,Stanislav Kmoch, Benjamin R. Leadem,Michael J. Lyons,Marina Macchiaiolo,Martin Magner,Giorgia Mandrile,Francesca Mattioli,Megan McEown,Sarah K. Meadows,Livija Medne,Naomi J. L. Meeks,Sarah Montgomery,Melanie P. Napier,Marvin Natowicz,Kimberly M. Newberry,Marcello Niceta,Lenka Noskova,Catherine B. Nowak,Amanda G. Noyes,Matthew Osmond,Eloise J. Prijoles,Jada Pugh,Verdiana Pullano,Chloe Quelin,Simin Rahimi-Aliabadi,Anita Rauch,Sylvia Redon,Alexandre Reymond,Caitlin R. Schwager,Elizabeth A. Sellars,Angela E. Scheuerle, Elena Shukarova-Angelovska,Cara Skraban,Elliot Stolerman,Bonnie R. Sullivan,Marco Tartaglia,Isabelle Thiffault,Kevin Uguen,Luis A. Umana,Yolande van Bever,Saskia N. van der Crabben,Marjon A. van Slegtenhorst,Quinten Waisfisz,Camerun Washington,Lance H. Rodan,Richard M. Myers,Gregory M. Cooper
AMERICAN JOURNAL OF HUMAN GENETICS（2023）
Cited8Views0WOSBibtex
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Variant C.394c>t in FGF3 is a Recurrent Cause of Profound Congenital Deafness in Slovak Roma
Maria Giertlova, Martin Mistrik, Petra Drencakova, Veronika Lopackova, Renata Zemjarova Mezenska, Katarina Cokasova, Michaela Urminska, Zuzana Zbonakova,Viktor Stranecky,Lenka Noskova
EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 109-109
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Author Statistics

#Papers: 61

#Citation: 1551

H-Index: 17

G-Index: 32

Sociability: 6

Diversity: 2

Activity: 12

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