I. Arroyo Carrera

Aarskog–Scott syndrome: Clinical update and report of nine novel mutations of the <i>FGD1</i> gene

Alfredo Orrico, Lucia Galli, Laurence Faivre et al. · American Journal of Medical Genetics Part A · 2010 · 56 citations

Life Sciences, Genetics, Molecular Genetics +17

Microdeletions of the 7q32.2 imprinted region are associated with Silver–Russell syndrome features

I. Arroyo Carrera, María Solo de Zaldívar, Rebeca Martín et al. · American Journal of Medical Genetics Part A · 2015 · 53 citations

Life Sciences, Genetics, Molecular Genetics +16

Probable Transmission of Brucellosis by Breast Milk

I. Arroyo Carrera · Journal of Tropical Pediatrics · 2006 · 49 citations · Full text

Public Health, Child Health, Infectious Diseases +17

Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy

Daniel Greene, Koenraad De Wispelaere, Marta Codina‐Solà et al. · Nature Genetics · 2025 · 40 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome

Matthieu J. Schlögel, Antonella Mendola, Elodie Fastré et al. · Orphanet Journal of Rare Diseases · 2015 · 34 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17