Joaquín Ramírez

发表

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.

Carrier detection and prenatal diagnosis of congenital adrenal hyperplasia must identify ‘apparently mild’ CYP21A2 alleles which associate neonatal salt‐wasting disease

B. Ezquieta, J. López-Siguero, R. Barrio, 2010, Prenatal diagnosis.

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

Miguel Ángel Martínez, N. Rahman, Pablo I Alarcón, 2019, European Journal of Human Genetics.

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.