Jose M. Aragues
Lisbon, 1649028, Portugal
Last Updated: 09/26/2026
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Found 12 publications
Kallmann Syndrome: Functional Analysis of a CHD7 Missense Variant Shows Aberrant RNA Splicing.
Journal: International journal of molecular sciences
Published: October 17, 2024
Genetic architecture of congenital hypogonadotropic hypogonadism: insights from analysis of a Portuguese cohort.
Journal: Human reproduction open
Published: April 11, 2024
The silent diabetic decompensation epidemic during the SARS-CoV2 pandemic - The role of primary care in early diagnosis and prevention of severe diabetic decompensation.
Journal: Primary care diabetes
Published: February 28, 2023
Parathyroid Carcinoma: A Rare Endocrine Malignancy.
Journal: The American journal of case reports
Published: December 26, 2021
Non-alpine primary thyroid angiosarcoma.
Journal: Archives of endocrinology and metabolism
Published: September 14, 2021
Ovarian Leydig Cell Tumor: Cause of Virilization in a Postmenopausal Woman.
Journal: The American journal of case reports
Published: August 27, 2021
High frequency of CHD7 mutations in congenital hypogonadotropic hypogonadism.
Journal: Scientific reports
Published: August 14, 2018
Hypogonadotropic hypogonadism in human immunodeficiency virus-infected men: uncommonly low testosterone levels.
Journal: Endocrinology, diabetes & metabolism case reports
Published: July 27, 2017
GNRHR biallelic and digenic mutations in patients with normosmic congenital hypogonadotropic hypogonadism.
Journal: Endocrine connections
Published: June 07, 2017
Novel FGFR1 mutations in Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: evidence for the involvement of an alternatively spliced isoform.
Journal: Fertility and sterility
Published: March 30, 2015
A case of thyroid hormone resistance: a rare mutation.
Journal: Arquivos brasileiros de endocrinologia e metabologia
Published: February 17, 2014
Showing 1-12 of 12
Last Updated: 09/26/2026