Joaquín Fernández Toral

Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome

Johannes G. Dauwerse, Jill Dixon, Saskia Seland et al. · Nature Genetics · 2010 · 364 citations

Mendelian Disorder, Treacher Collins, Rna Polymerases +9

PCR‐based study of the presence of Y‐chromosome sequences in patients with Ullrich‐Turner syndrome

Eliécer Coto, Joaquín Fernández Toral, María J. Menéndez et al. · American Journal of Medical Genetics · 1995 · 43 citations · Full text

Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients

Jair Tenorio, Pablo Alarcón, Pedro Arias et al. · European Journal of Human Genetics · 2019 · 30 citations · Full text

New Patients, Mendelian Disorder, Genetic Disorder +9

High resolution microarray CGH and MLPA analysis for improved genotype/phenotype evaluation of two childhood genetic disorder cases: ring chromosome 19 and partial duplication 2q

Mario Hermsen, Marianne Tijssen, I. Hernando Acero et al. · European Journal of Medical Genetics · 2005 · 27 citations · Full text

Mendelian Disorder, Ring Chromosome 19, Mlpa Analysis +12

Comprehensive screening of CREB‐binding protein gene mutations among patients with Rubinstein‐Taybi syndrome using denaturing high‐performance liquid chromatography

Toru Udaka, Hazuki Samejima, Rika Kosaki et al. · Congenital Anomalies · 2005 · 23 citations