Juan Francisco Quesada‐Espinosa

Analysis of follicular fluid and serum markers of oxidative stress in women with infertility related to endometriosis

Laura Prieto, Juan Francisco Quesada‐Espinosa, Olivia Cambero et al. · Fertility and Sterility · 2012 · 185 citations

Medicine, Gynecology, Obstetrics +16

Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome

Jennifer W. Leiding, Tiphanie P. Vogel, Valentine G.J. Santarlas et al. · Journal of Allergy and Clinical Immunology · 2022 · 124 citations · Full text

Life Sciences, Genetics, Immunology +11

Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier Test

Ana Arteche‐López, Maria José Gómez-Rodríguez, María Teresa Sánchez‐Calvín et al. · Genes · 2021 · 53 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Screening for mutations in Spanish families with myotonia. Functional analysis of novel mutations in CLCN1 gene

Marı́a J. Mazón, Francisco Barros, Pilar de la Peña et al. · Neuromuscular Disorders · 2011 · 36 citations · Full text

Life Sciences, Genetics, Molecular Genetics +5

New Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome cases are caused by the presence of a nonsense variant in compound heterozygosity with the pathogenic repeat expansion in the <scp> <i>RFC1</i> </scp> gene

Ana Arteche‐López, Almudena Ávila‐Fernández, Alejandra Damián et al. · Clinical Genetics · 2022 · 25 citations

Life Sciences, Genetics, Molecular Genetics +17