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Papers共 60 篇Author StatisticsCo-AuthorSimilar Experts

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Bi-allelic Variants in Three Genes Encoding Distinct Subunits of the Vesicular AP-5 Complex Cause Hereditary Macular Dystrophy
Karolina Kaminska, Francesca Cancellieri, Mathieu Quinodoz, Abigail R Moye, Miriam Bauwens,Siying Lin, Lucas Janeschitz-Kriegl, Tamar Hayman, Pilar Barberán-Martínez,Regina Schlaeger, Filip Van den Broeck,Almudena Ávila Fernández, Lidia Fernández-Caballero, Irene Perea-Romero,Gema García-García,David Salom, Pascale Mazzola, Theresia Zuleger, Karin Poths,Tobias B Haack,Julie Jacob,Sascha Vermeer, Frédérique Terbeek, Nicolas Feltgen, Alexandre P Moulin, Louisa Koutroumanou, George Papadakis,Andrew C Browning, Savita Madhusudhan, Lotta Gränse,Eyal Banin,Ana Berta Sousa, Luisa Coutinho Santos, Laura Kuehlewein, Pietro De Angeli,Bart P Leroy,Omar A Mahroo, Fay Sedgwick, James Eden,Maximilian Pfau,Sten Andréasson,Hendrik P N Scholl,Carmen Ayuso,José M Millán,Dror Sharon,Miltiadis K Tsilimbaris,Veronika Vaclavik, Hoai V Tran, Tamar Ben-Yosef,Elfride De Baere,Andrew R Webster,Gavin Arno,Panagiotis I Sergouniotis,Susanne Kohl,Cristina Santos,Carlo Rivolta
American journal of human geneticsno. 4 (2025): 808-828
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Innovative Therapies for Inherited Retinal Dystrophies: Navigating DNA, RNA, and Protein Approaches
Ana Pilar Gómez-Escribano,Gema García-García, Estela Pérez-Santamarina, Elena Aller-Mañas, Rafael Pascual Vázquez-Manrique, José María Millán-Salvador
EBioMedicine (2025): 105751-105751
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Outcomes of a Pilot Newborn Screening Program for Spinal Muscular Atrophy in the Valencian Community
Alba Berzal-Serrano,Belén García-Bohórquez,Elena Aller,Teresa Jaijo, Inmaculada Pitarch-Castellano, Dolores Rausell,Gema García-García,José M Millán
International journal of neonatal screeningno. 1 (2025)
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Genetic Diagnostic of Inherited Retinal Dystrophies Through Clinical Exome Sequencing
Pilar Barberan-Martinez,Belen Garcia-Bohorquez, Cinta Navarro-Moreno,Teresa Jaijo,Elena Aller,Gema Garcia-Garcia,Jose M. Millan
EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 119-119
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Pilot Study for the Implementation of Newborn Screening for Spinal Muscular Atrophy in Valencia
Alba Berzal-Serrano,Elena Aller,Teresa Jaijo,Lidon Carretero-Vilarroig,Belen Garcia-Bohorquez, Cinta Navarro-Moreno, Inmaculada Pitarch-Castellano, Dolores Rausell, Jose Vicente Marcos-Tomas, Sandra Ruiz-Aja,Gema Garcia-Garcia,Jose M. Millan
EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 223-224
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Author Statistics

#Papers: 60

#Citation: 1210

H-Index: 21

G-Index: 34

Sociability: 6

Diversity: 3

Activity: 12

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