Rosario Domingo‐Jiménez

Statistics

Publications

Citations

402

H-Index

Active since

2002

Affiliations

Hospital Universitario Virgen de la Arrixaca(Current)

Centre for Biomedical Network Research on Rare Diseases

Instituto de Salud Carlos III

Universidade de Santiago de Compostela

Hospital Sant Joan de Déu Barcelona

Rosario Domingo‐Jiménez is an author at Hospital Universitario Virgen de la Arrixaca specializing in life sciences, neurology, and molecular genetics.

ORCID

Publications per year

2002–2023

Publications

A new seipin-associated neurodegenerative syndrome

Encarna Guillén‐Navarro, Sofía Sánchez‐Iglesias, Rosario Domingo‐Jiménez et al. · Journal of Medical Genetics · 2013 · 78 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Recombinant human leptin treatment in genetic lipodystrophic syndromes: the long-term Spanish experience

David Araújo‐Vilar, Sofía Sánchez‐Iglesias, Cristina Guillín‐Amarelle et al. · Endocrine · 2014 · 48 citations · Full text

Medicine, Endocrinology, Nutrition +17

Clinical and molecular diagnosis of non‐phosphomannomutase 2 N‐linked congenital disorders of glycosylation in Spain

Celia Medrano, Ana Vega, Rosa Navarrete et al. · Clinical Genetics · 2019 · 42 citations

Life Sciences, Genetics, Molecular Genetics +15

Pseudodominant inheritance of Langer mesomelic dysplasia caused by a <i>SHOX</i> homeobox missense mutation

Deborah Shears, Encarna Guillén‐Navarro, Manuel Sempere‐Miralles et al. · American Journal of Medical Genetics · 2002 · 36 citations

Life Sciences, Genetics, Molecular Genetics +14

Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients

María‐Socorro Pérez‐Poyato, Montserrat Milà, Isidre Ferrer Abizanda et al. · Journal of Inherited Metabolic Disease · 2011 · 30 citations

Medicine, Neurology, Pathology +6

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