Yolanda Martín

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

Magdalena Koczkowska, Yunjia Chen, Tom Callens et al. · The American Journal of Human Genetics · 2017 · 203 citations · Full text

Auditory neuropathy in patients carrying mutations in the otoferlin gene (<i>OTOF</i>)

Montserrat Rodríguez-Ballesteros, Francisco Castillo, Yolanda Martín et al. · Human Mutation · 2003 · 196 citations

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation

Kitiwan Rojnueangnit, Jing Xie, Alicia Gomes et al. · Human Mutation · 2015 · 188 citations · Full text

Genetics, Genetic Epidemiology, Pathology +17

Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene

Laura Alías, Sara Bernal, Pablo Fuentes‐Prior et al. · Human Genetics · 2008 · 163 citations

Somatic Variant, Mendelian Disorder, Genetic Disorder +9

CB1 cannabinoid receptor antagonist-induced opiate withdrawal in morphine-dependent rats

Miguel Navarro, Julie A. Chowen, M. Rocı́o A. Carrera et al. · Neuroreport · 1998 · 153 citations