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Research Interests

Papers共 21 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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Pancreatic Malformation and Heterotaxy Syndrome Associated with 6q25.1 Haploinsufficiency
Berta Sufrate-Vergara,Carla Martín Grau,Laia Pedrola Vidal,Purificación Marín-Reina, María Jesús Esteban Ríos, Raquel Rodríguez-López
Pancreasno. 6 (2025): e571-e572
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Triplication of PCDH19 Gene As a Potential Novel Disease Mechanism Associated to Epilepsy Phenotype Resembling Loss-of-function Mutations
Francisco Martinez,Carmen Orellana,Monica Rosello Piera, Sandra Monfort Membrado, Juan Silvestre Oltra Soler,Carla Martin-Grau, Alba Gabaldon Albero
EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 191-191
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Aicardi-Goutières Syndrome Type 6: Report of ADAR Variant and Clinical Outcome after Ruxolitinib Treatment in the Neonatal Period
Alba Gabaldon-Albero,Carla Martin-Grau, Miguel Marti-Masanet, Alejandro Lopez-Jimenez, Roberto Llorens, Beatriz Beseler-Soto, Sergio Martin-Zamora, Berta Lopez, Inmaculada Calvo, Sara Hernandez-Muela,Monica Rosello,Carmen Orellana,Francisco Martinez
Pediatric Rheumatology（2024）
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Author Statistics

#Papers: 21

#Citation: 94

H-Index: 6

G-Index: 9

Sociability: 4

Diversity: 2

Activity: 5

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