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论文共 303 篇作者统计合作学者相似作者

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ACTB Loss-of-Function Variant and AUTS2 Duplication in a Patient with Syndromic Intellectual Disability
Ana Claudia Dantas Machado, Laura Machado Lara Carvalho, Felipe Tadeu Galante Rocha de Vasconcelos,Débora Romeo Bertola,Carla Rosenberg,Ana Cristina Victorino Krepischi
Current Genetic Medicine Reportsno. 1 (2025): 1-8
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P245: Optic Genome Mapping Reveals a Complex Chromosome Rearrangement Disrupting SYT1 in an Individual with a Neurodevelopmental Disorder
Débora Bertola,Silvia Costa, Maria Pinheiro, Maria Rita Passos-Bueno,Carla Rosenberg, Ana Krepischi
Genetics in Medicine Open (2025): 102210
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Clinical and Molecular Characterization of Xia-Gibbs Syndrome: Expanding the Phenotypic Spectrum in a Brazilian Cohort
Maísa Ganz Sanchez Sennes, Laura Machado Lara Carvalho, Matheus Augusto Araújo Castro, Giovana Manilli Toccoli, Sofia de Oliveira Farias, Davi Mendes Campo Fialho,Eny Maria Goloni Bertollo, Erika Cristina Pavarino, Larissa Sampaio de Athayde, Cecilia Barbosa Buck,Maria Betânia Pereira Toralles,Maria Isabel Melaragno, Mariluce Riegel-Giugliani, Gustavo Marquezani Spolador, Paulo Alberto Otto, Caroline Brandão Piai,Fernando Kok, Ceres Schmitz Cechella,Carla Rosenberg, Juan Clinton Llerena,Débora Romeo Bertola,Salmo Raskin,Chong Ae Kim,Ana Cristina Victorino Krepischi
Clinical genetics (2025)
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作者统计

#Papers: 301

#Citation: 14631

H-Index: 50

G-Index: 117

Sociability: 8

Diversity: 4

Activity: 21

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