Herminia Puerta

New JAG1 Mutation Causing Alagille Syndrome Presenting With Severe Hypercholesterolemia: Case Report With Emphasis on Genetics and Lipid Abnormalities

Z. Hannoush, Herminia Puerta, M. Bauer, 2016, The Journal of clinical endocrinology and metabolism.

High incidence of Y-chromosome microdeletions in gonadal tissues from patients with 45,X/46,XY gonadal dysgenesis.

F. Álvarez-Nava, A. Temponi, Herminia Puerta, 2008, Fertility and sterility.

Y‐chromosome microdeletions in 45,X/46,XY patients

Herminia Puerta, Francisco Alvarez Nava, 2006, American journal of medical genetics. Part A.

Ophthalmic findings in Frank-ter Haar syndrome: report of a sibling pair.

T. C. Chang, Kara M. Cavuoto, Herminia Puerta, 2017, Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus.

Neonatal diagnosis of a patient with hypoparathyroidism, sensorineural deafness and renal dysplasia (HDR) syndrome associated with cerebral infarction

Luisa F. Cervantes, Herminia Puerta, M. Bauer, 2014, Journal of pediatric endocrinology & metabolism : JPEM.