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Papers共 26 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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期刊级别
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P076: Molybdenum Cofactor Deficiency: Results of Rapid S-sulfocysteine Analysis and Genome Sequencing Still Not Rapid Enough
Molly Crenshaw, Mariele Anneling, Monika Williams, Milap Patel,Benjamin Cocanougher,Sarah Young, Areeg El-Gharbawy,Dmitriy Niyazov,Ashlee Stiles
Genetics in Medicine Open (2025): 102920
Cited0Views0Bibtex
0
0
P484: Congenital Knee and Hip Dislocations with Brain Malformation in an Infant with a Supernumerary Chromosome +Der(9)t(5;9)
Milap Patel, Shruthi Mohan,Benjamin Cocanougher, David Fear, Mariele Anneling, Molly Crenshaw, Monika Williams, Eric Miller,Marie McDonald, Shital Patel,Ludmila Francescatto,Catherine Rehder, Jennifer Cohen
Genetics in Medicine Open (2025): 103351
Cited0Views0Bibtex
0
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Expanded Phenotypic Spectrum of Neurodevelopmental and Neurodegenerative Disorder Bryant-Li-Bhoj Syndrome with 38 Additional Individuals
Dana E. Layo-Carris,Emily E. Lubin,Annabel K. Sangree,Kelly J. Clark,Emily L. Durham,Elizabeth M. Gonzalez, Sarina Smith,Rajesh Angireddy, Xiao Min Wang, Erin Weiss,Roberto Mendoza-Londono,Lucie Dupuis,Nadirah Damseh,Danita Velasco,Irene Valenzuela,Marta Codina-Sola,Catherine Ziats, Jaclyn Have,Katie Clarkson,Dora Steel,Manju Kurian,Katy Barwick, Diana Carrasco,Aditi I. Dagli,M. J. M. Nowaczyk,Miroslava Hancarova,Sarka Bendova,Darina Prchalova,Zdenek Sedlacek, Alica Baxova,Catherine Bearce Nowak,Jessica Douglas,Wendy K. Chung,Nicola Longo,Konrad Platzer,Chiara Kloeckner,Luisa Averdunk,Dagmar Wieczorek,Ilona Krey,Christiane Zweier,Andre Reis,Tugce Balci,Marleen Simon,Hester Y. Kroes,Antje Wiesener,Georgia Vasileiou,Nikolaos M. Marinakis,Danai Veltra,Christalena Sofocleous,Konstantina Kosma,Joanne Traeger Synodinos,Konstantinos A. Voudris,Marie-Laure Vuillaume,Paul Gueguen,Nicolas Derive,Estelle Colin, Clarisse Battault,Billie Au,Martin Delatycki,Mathew Wallis,Lyndon Gallacher,Fatma Majdoub,Noor Smal,Sarah Weckhuysen,An-Sofie Schoonjans,R. Frank Kooy,Marije Meuwissen,Benjamin T. Cocanougher,Kathryn Taylor,Carolyn E. Pizoli,Marie T. McDonald, Philip James,Elizabeth R. Roeder,Rebecca Littlejohn,Nicholas A. Borja,Willa Thorson, Kristine King,Radka Stoeva,Manon Suerink,Esther Nibbeling, Stephanie Baskin, Gwenael L. E. Guyader,Julie Kaplan,Candace Muss,Deanna Alexis Carere,Elizabeth J. K. Bhoj,Laura M. Bryant
EUROPEAN JOURNAL OF HUMAN GENETICS (2024)
Cited1Views0WOSNATUREBibtex
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Author Statistics

#Papers: 26

#Citation: 261

H-Index: 9

G-Index: 16

Sociability: 6

Diversity: 2

Activity: 5

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