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Research Interests

Papers共 123 篇Author StatisticsCo-AuthorSimilar Experts

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Expanding the Phenotype of UPF3B-related Disorder: Case Reports and Literature Review
Ferruccio Romano, Maria K. Haanpaeae,Pawel Pomianowski, Amanda Rose Peraino, John R. Pollard, Maria Francesca Di Feo,Monica Traverso,Mariasavina Severino,Maria Derchi, Edoardo Henzen,Federico Zara,Francesca Faravelli,Valeria Capra,Marcello Scala
AMERICAN JOURNAL OF MEDICAL GENETICS PART Ano. 6 (2024)
Cited0Views0WOSBibtex
0
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Truncating Variants in PAPSS2 Gene: A Cause of Early Prenatal Onset Brachyolmia
Giulia Biancotto,Giulia Rosti,Francesca Madia,Valeria Capra,Marcello Scala, Elena Aleo,Dario Paladini
PRENATAL DIAGNOSISno. 8 (2024): 1003-1007
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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）
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Author Statistics

#Papers: 124

#Citation: 758

H-Index: 16

G-Index: 22

Sociability: 8

Diversity: 3

Activity: 123

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