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Papers共 11 篇Author StatisticsCo-AuthorSimilar Experts

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Pathogenic Variants in KMT2C Result in a Neurodevelopmental Disorder Distinct from Kleefstra and Kabuki Syndromes
Dmitrijs Rots,Sanaa Choufani,Victor Faundes,Alexander J. M. Dingemans,Shelagh Joss,Nicola Foulds,Elizabeth A. Jones, Sarah Stewart,Pradeep Vasudevan,Tabib Dabir,Soo-Mi Park,Rosalyn Jewell,Natasha Brown,Lynn Pais,Sebastien Jacquemont, Khadije Jizi,Conny M. A. van Ravenswaaij-Arts,Hester Y. Kroes,Constance T. R. M. Stumpel,Charlotte W. Ockeloen, Illja J. Diets,Mathilde Nizon,Marie Vincent, Benjamin Cogne, Thomas Besnard, Marios Kambouris, Emily Anderson, Elaine H. Zackai, Carey McDougall, Sarah Donoghue, Anne O'Donnell-Luria, Zaheer Valivullah, Melanie O'Leary,Siddharth Srivastava,Heather Byers, Nancy Leslie, Sarah Mazzola, George E. Tiller, Moin Vera, Joseph J. Shen, Richard Boles, Vani Jain, Elise Brischoux-Boucher, Esther Kinning, Brittany N. Simpson, Jacques C. Giltay, Jacqueline Harris, Boris Keren,Anne Guimier, Pierre Marijon, Bert B. A. de Vries,Constance S. Motter, Bryce A. Mendelsohn, Samantha Coffino, Erica H. Gerkes, Alexandra Afenjar,Paola Visconti, Elena Bacchelli, Elena Maestrini, Andree Delahaye-Duriez,Catherine Gooch, Yvonne Hendriks, Hieab Adams, Christel Thauvin-Robinet, Sarah Josephi-Taylor, Marta Bertoli, Michael J. Parker, Julie W. Rutten, Oana Caluseriu, Hilary J. Vernon, Jonah Kaziyev, Jia Zhu,Jessica Kremen, Zoe Frazier, Hailey Osika,David Breault, Sreelata Nair, Suzanne M. E. Lewis, Fabiola Ceroni,Marta Viggiano,Annio Posar, Helen Brittain, Traficante Giovanna,Gori Giulia,Lina Quteineh, Russia Ha-Vinh Leuchter, Evelien Zonneveld-Huijssoon,Cecilia Mellado, Isabelle Marey, Alicia Coudert, Mariana Ines Aracena Alvarez, Milou G. P. Kennis,Arianne Bouman,Maian Roifman, Maria Inmaculada Amoros Rodriguez, Juan Dario Ortigoza-Escobar, Vivian Vernimmen, Margje Sinnema, Rolph Pfundt, Han G. Brunner, Lisenka E. L. M. Vissers, Tjitske Kleefstra,Rosanna Weksberg,Siddharth Banka
AMERICAN JOURNAL OF HUMAN GENETICSno. 8 (2024): 1626-1642
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Could Increased Nuchal Translucency Be an Early Marker for Type 0 Spinal Muscular Atrophy
Giulia Gori,Sara Bargiacchi, Maria Rosaria D'Apice, Roberto Biagiotti, Paolo Poggi, Viviana Palazzo,Rosangela Artuso, Angelica Pagliazzi, Angela Peron,Giuseppe Novelli, Elena Andreucci
EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 109-110
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Distinguishing Genetic Alterations Versus (epi)mutations in Silver-Russell Syndrome and Focus on the IGF1R Gene
Alessandro Vimercati,Pierpaola Tannorella,Sara Guzzetti,Luciano Calzari, Davide Gentilini, Emanuela Manfredini,Giulia Gori,Rossella Gaudino,Vincenzo Antona,Maria Piccione,Cecilia Daolio, Renata Auricchio,Fabio Sirchia, Antonella Minelli, Elena Rossi,Melissa Bellini, Giacomo Biasucci, Annalisa Russo Raucci, Gabriella Pozzobon, Giuseppa Patti,Flavia Napoli, Lidia Larizza,Mohamad Maghnie,Silvia Russo
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2024)
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Author Statistics

#Papers: 10

#Citation: 32

H-Index: 2

G-Index: 3

Sociability: 5

Diversity: 1

Activity: 2

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