V López-González - Genet Med, Hosp Clin Univ Virgen Arrixaca

基本信息

浏览量：0

职业迁徙

个人简介

暂无内容

研究兴趣

论文共 20 篇作者统计合作学者相似作者

按年份排序按引用量排序主题筛选期刊级别筛选合作者筛选合作机构筛选

Molecular spectrum in 23 Spanish families affected by hereditary multiple osteochondromas

M. C. Martinez-Romero,A. T. Serrano-Anton,M. J. Sanchez-Soler,L. Rodriguez-Pena,M. J. Ballesta-Martinez,V. Lopez-Gonzalez, M. Barreda-Sanchez, M. E. Perez-Tomas, P. Carbonell-Meseguer, C. Salcedo-Canovas,E. Guillen-Navarro

EUROPEAN JOURNAL OF HUMAN GENETICS（2022）

引用0浏览0引用

SETBP1 variants outside the degron disrupt DNA-binding and transcription independent of protein abundance to cause a heterogeneous neurodevelopmental disorder

M. M. Wong, R. A. Kampen, R. O. Braden, G. Alagoz,M. S. Hildebrand,C. Barnett, M. Barnett,A. Brusco,D. Carli,B. B. de Vries, A. J. Dingemans, F. Elmslie,G. B. Ferrero, N. A. Jansen, I. M. van de Laar, A. Moroni,D. Mowat, L. Murray,F. Novara,A. Peron,I. E. Scheffer,F. Sirchia, S. J. Turner,A. Vignoli,A. Vino, S. Weber,W. K. Chung, M. Gerard,V. Lopez-Gonzalez, E. Palmer,A. T. Morgan,B. W. van Bon,S. E. Fisher

medRxiv（2022）

引用2浏览0引用

New case with the recurrent c.635G>A pathogenic variant in the PACS2 gene: Expanding the phenotype

M. J. Sanchez-Soler,A. T. Serrano-Anton,V. Lopez-Gonzalez,E. Guillen-Navarro

Neurologiano. 9 (2021): 716-719

引用0浏览0WOS引用

New Case with the Recurrent C.625g>a Pathogenic Variant in the PACS2 Gene: Expanding the Phenotype

M.J. Sánchez-Soler,A.T. Serrano-Antón,V. López-González,E. Guillén-Navarro

Neurología (English Edition)no. 9 (2021): 716-719

引用1浏览0WOS引用

Nuevo Caso Con La Variante Patogénica Recurrente C.625g>a En El Gen PACS2: Expansión Del Fenotipo

M.J. Sánchez-Soler,A.T. Serrano-Antón,V. López-González,E. Guillén-Navarro

Neurologíano. 9 (2021): 716-719

引用1浏览0引用

Expanding The Clinical Phenotype Of X-Linked Mental Retardation 103: New Patient With Deleterious Mutation In Klhl15 Gene

M. Ballesta-Martinez,M. Sanchez Soler,A. Serrano Anton,V. Lopez-Gonzalez,L. Rodriguez Pena, L. Armengol Dulcet,E. Guillen Navarro

EUROPEAN JOURNAL OF HUMAN GENETICS（2020）

引用0浏览0引用

New Case Of Bardet Bield Syndrome Caused By Novel Biallelic Mutations In Ift172 Gene

M. Sanchez Soler,M. Ballesta-Martinez, A. Serrano-Anton,V. Lopez-Gonzalez,L. Rodriguez-Pena,E. Guillen-Navarro

EUROPEAN JOURNAL OF HUMAN GENETICS（2020）

引用0浏览0引用

A Novel Pathogenic Variant In The Cldn10 Gene Associated With Helix Syndrome

M. C. Martinez-Romero, M. Barreda-Sanchez, M. E. Perez-Tomas,M. J. Ballesta-Martinez,V. Lopez-Gonzalez,M. J. Sanchez-Soler,A. T. Serrano-Anton,L. Rodriguez-Pena, M. E. Hernandez,T. Martinez-Menchon,P. Sanchez-Pedreno,G. Glover,P. Carbonell, V. Cabello-Chaves,E. Guillen-Navarro

EUROPEAN JOURNAL OF HUMAN GENETICS（2020）

引用0浏览0引用

Variants of human peptide transporter 2 (PEPT2) and chronic kidney disease in acute intermittent porphyria Spanish carriers

M. Barreda-Sanchez,J. Buendia,C. Carazo-Diaz,G. Glover,M. C. Martinez-Romero,M. J. Ballesta-Martinez,V. Lopez-Gonzalez,M. J. Sanchez-Soler, L. Rodriguez, R. Gil-Ferrer,E. Guillen-Navarro

EUROPEAN JOURNAL OF HUMAN GENETICS（2019）

引用0浏览0引用

Clinical and laboratory management of the largest cohort of Spanish individuals with Phelan McDermid syndrome

J. Nevado,M. Palomares,S. Garcia-Minaur, M. Mori,F. Santos,E. Vallespin,P. Barruz,J. A. Tenorio, C. Bel-Fenellos,E. Guillen-Navarro,J. Rosell,M. Mila,M. Del Campo, G. Obregon,C. Orellana,H. Pachajoa,E. Galan,J. C. Cigudosa, C. Saleme, S. Castillo,E. Gabau,S. Borrego,P. Tirado, A. Barcia,L. Perez-Jurado,R. Mena, A. Moresco, P. Garcia-Murillo,J. Suela,A. Perez-Granero,V. Lopez-Gonzalez, M. J. Ballesta,L. Rodriguez-Revenga, R. Lleuger,L. Armengol,C. Pena, S. Martin,R. Martin-Arenas, V. Fernandez-Montano,V. Gomez del Pozo,B. Fernandez,E. Mansilla,I. P. Vallcorba,P. D. Lapunzina

EUROPEAN JOURNAL OF HUMAN GENETICS（2019）

引用0浏览0引用

加载更多

作者统计

合作学者

合作机构

D-Core

合作者
学生
导师

暂无相似学者，你可以通过学者研究领域进行搜索筛选

数据免责声明

页面数据均来自互联网公开来源、合作出版商和通过AI技术自动分析结果，我们不对页面数据的有效性、准确性、正确性、可靠性、完整性和及时性做出任何承诺和保证。若有疑问，可以通过电子邮件方式联系我们：report@aminer.cn