Author

J M Varela

Observed names: J. Varela, J.M. Varela, Julianna do Nascimento e Silva Varela

Observed institution: Hospital Universitario La Paz

OpenAlex ID: A5113769321

Non-classical 21-hydroxylase deficiency in children: association of adrenocorticotropic hormone-stimulated 17-hydroxyprogesterone with the risk of compound heterozygosity with severe mutations

2002 · B. Ezquieta, E. Cueva, et al. · Acta Paediatrica · 47

Gene conversion (655G splicing mutation) and the founder effect (Gln318Stop) contribute to the most frequent severe point mutations in congenital adrenal hyperplasia (21‐hydroxylase deficiency) in the Spanish population

2002 · B Ezquieta, E Cueva, et al. · Clinical Genetics · 33

A Novel Frameshift Mutation in the First Exon of the 21-OH Gene Found in Homozygosity in an Apparently Nonconsanguineous Family

1999 · B. Ezquieta, M. Oyarzábal, et al. · Hormone Research in Paediatrics · 25

Nonisotopic detection of point mutations in CYP21B gene in steroid 21-hydroxylase deficiency

1996 · B Ezquieta, J M Varela, et al. · Clinical Chemistry · 21

[Prenatal molecular genetic diagnosis and treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency].

1997 · A Rodríguez, B Ezquieta, et al. · PubMed · 9

[Atrioventricular block in Kearns-Sayre syndrome].

1990 · A Pedrote, J M Varela, et al. · PubMed · 5

Congress Calendar

1999 · B. Ezquieta, M. Oyarzábal, et al. · Hormone Research in Paediatrics · 2

Construindo um Futuro Sustentável: demandas de saúde e horizontes tecnológicos em imunobiológicos

2025 · Thaís Pereira Catão, Julianna do Nascimento e Silva Varela, et al. · Epidemiologia e Serviços de Saúde

Works count: 8

Citation count: 142

H-index: 5

I10-index: 4