C. Luzuriaga

Gene duplications in 21‐hydroxylase deficiency: the importance of accurate molecular diagnosis in carrier detection and prenatal diagnosis

B. Ezquieta, F. Hermoso, R. Barrio, 2006, Prenatal diagnosis.

Individualised vs fixed dose of oral 17β-oestradiol for induction of puberty in girls with Turner syndrome: an open-randomised parallel trial.

I. Rica, J. López-Siguero, J. Labarta, 2012, European journal of endocrinology.

Vitamin D status in children with Down's syndrome.

J. Riancho, J. González‐Macías, J. Flórez, 2008, Journal of intellectual disability research : JIDR.

Neonatal salt‐wasting and 11 β‐hydroxylase deficiency in a child carrying a homozygous deletion hybrid CYP11B2 (aldosterone synthase)–CYP11B1 (11 β‐hydroxylase)

B. Ezquieta, C. Luzuriaga, 2004, Clinical genetics.

Heterozygous NPR2 Mutations Cause Disproportionate Short Stature, Similar to Léri-Weill Dyschondrosteosis.

Gabriela A. Vasques, A. Jorge, Á. Campos-Barros, 2015, The Journal of clinical endocrinology and metabolism.

The majority of cases of neonatal diabetes in Spain can be explained by known genetic abnormalities

J. Bilbao, E. Fernandez-Rebollo, I. Rica, 2007, Diabetic medicine : a journal of the British Diabetic Association.

HLA class II immunogenetics and incidence of insulin-dependent diabetes mellitus in the population of Cantabria (Northern Spain).

F. Leyva-Cobián, J. Ocejo-Vinyals, C. Luzuriaga, 1999, Human immunology.

Forty-one individuals with mutations in the AVP-NPII gene associated with familial neurohypophyseal diabetes insipidus.

I. Urrutia, S. Gaztambide, M. Rodríguez-Arnao, 2020, The Journal of clinical endocrinology and metabolism.

Surgical treatment of persistent hyperinsulinemic hypoglycemia (PHH) (insulinoma and nesidioblastosis)

F. González, F. Rotellar, F. Pardo, 2007, Langenbeck's Archives of Surgery.

Monogenic and Polygenic Models Detected in Steroid 21-Hydroxylase Deficiency-Related Paediatric Hyperandrogenism

B. Ezquieta, F. Hermoso, M. Gallego, 2008, Hormone Research in Paediatrics.