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Research Interests

Papers共 84 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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495P Genetic Mosaicism, an Underestimated Event in Genetically Unsolved Neuromuscular Patients: Study of Two Families
B. Estévez-Arias, A. Segarra-Casas, C. Ortez,L. Matalonga,L. Carrera-García,J. Expósito-Escudero, C. Jou, A. Codina, C. Jiménez-Mallebrera, L. Martorell, H. Lochmüller, A. Töpf, S. Beltran,J. Hoenicka, F. Palau,I. Martí, P. Gallano, A. Nascimento,D. Natera-de Benito,L. González-Quereda
Neuromuscular Disorders（2024）
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NAGENpediatrics: Rapid Whole Genome Sequencing in Neonatal/Pediatric Intensive Care in Navarra, Spain
Sara Ciria Abad, Monica Arasanz Armengol,Leslie Matalonga, Gemma Bullich Vilanova,Ida Paramonov,Edurne Urrutia Lafuente,Oscar Teijido Hermida,Alberto Maillo, Maria Miranda Perez, David Cobos Hermosa, Gonzalo Etayo Nagore, Juan Jose Beloqui Lizaso, Iranzu Gonzalez Borja, Amaya Bengoa Alonso, Merce Artigas Lopez, Ainhoa Iceta Lizarraga,Angel Alonso Sanchez,Nerea Gorria-Redondo, Josune Hualde Olascoaga
EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 305-305
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237P Advancing the Understanding of VAMP1-related Congenital Myasthenic Syndrome: Phenotypic Insights, Favorable Response to 3,4-Diaminopyridine, and Clinical Characterization of Five New Cases
D. Natera De Benito, A. Pugliese,K. Polavarapu,V. Guergueltcheva, I. Tournev, A. Todorova, J. Ribeiro, D.M. Fernández-Mayoralas, C. Ortez, L. Martorell, B. Estévez-Arias,L. Matalonga, S. Laurie, C. Jou, J. Lau, R. Thompson, X. Shen, A. Engel, A. Nascimento, H. Lochmuller, D. Selcen
Neuromuscular Disorders（2024）
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Author Statistics

#Papers: 84

#Citation: 575

H-Index: 15

G-Index: 22

Sociability: 7

Diversity: 0

Activity: 2

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