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Response to Letter to the Editor: "Forty-One Individuals with Mutations in the AVP-NPII Gene Associated with Familial Neurohypophyseal Diabetes Insipidus.
- Published in:
- 2020
- By:
- Publication type:
- letter
Risk for progression to type 1 diabetes in first-degree relatives under 50 years of age.
- Published in:
- Frontiers in Endocrinology, 2024, p. 1, doi. 10.3389/fendo.2024.1411686
- By:
- Publication type:
- Article
GATA4 Variants in Individuals With a 46, XY Disorder of Sex Development (DSD) May or May Not Be Associated With Cardiac Defects Depending on Second Hits in Other DSD Genes.
- Published in:
- Frontiers in Endocrinology, 2018, p. 1, doi. 10.3389/fendo.2018.00142
- By:
- Publication type:
- Article
An Activating Mutation in Results in Neonatal Diabetes Through Reduced Insulin Synthesis.
- Published in:
- 2017
- By:
- Publication type:
- journal article
A Novel Mutation in the INSR Gene Causes Severe Insulin Resistance and Rabson–Mendenhall Syndrome in a Paraguayan Patient.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 6, p. 3143, doi. 10.3390/ijms25063143
- By:
- Publication type:
- Article
Variants of STAR, AMH and ZFPM2/FOG2 May Contribute towards the Broad Phenotype Observed in 46,XY DSD Patients with Heterozygous Variants of NR5A1.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 22, p. 8554, doi. 10.3390/ijms21228554
- By:
- Publication type:
- Article
Clinical and genetic characteristics in patients under 30 years with sporadic pituitary adenomas.
- Published in:
- European Journal of Endocrinology, 2021, v. 185, n. 4, p. 485, doi. 10.1530/EJE-21-0075
- By:
- Publication type:
- Article
Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations.
- Published in:
- PLoS ONE, 2023, v. 18, n. 7, p. 1, doi. 10.1371/journal.pone.0287515
- By:
- Publication type:
- Article
Forty-One Individuals With Mutations in the AVP-NPII Gene Associated With Familial Neurohypophyseal Diabetes Insipidus.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Novel variant in the CNNM2 gene associated with dominant hypomagnesemia.
- Published in:
- PLoS ONE, 2020, v. 15, n. 9, p. 1, doi. 10.1371/journal.pone.0239965
- By:
- Publication type:
- Article
Incidence of diabetes mellitus and associated risk factors in the adult population of the Basque country, Spain.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-82548-y
- By:
- Publication type:
- Article
Five patients with disorders of calcium metabolism presented with GCM2 gene variants.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-82661-y
- By:
- Publication type:
- Article
Lower Frequency of HLA-DRB1 Type 1 Diabetes Risk Alleles in Pediatric Patients with MODY.
- Published in:
- PLoS ONE, 2017, v. 12, n. 1, p. 1, doi. 10.1371/journal.pone.0169389
- By:
- Publication type:
- Article
Broad Phenotypes of Disorders/Differences of Sex Development in MAMLD1 Patients Through Oligogenic Disease.
- Published in:
- Frontiers in Genetics, 2019, p. 1, doi. 10.3389/fgene.2019.00746
- By:
- Publication type:
- Article
Negative autoimmunity in a Spanish pediatric cohort suspected of type 1 diabetes, could it be monogenic diabetes?
- Published in:
- PLoS ONE, 2019, v. 14, n. 7, p. 1, doi. 10.1371/journal.pone.0220634
- By:
- Publication type:
- Article
Rare Germline DICER1 Variants in Pediatric Patients With Cushing's Disease: What Is Their Role?
- Published in:
- Frontiers in Endocrinology, 2020, v. 11, p. 1, doi. 10.3389/fendo.2020.00433
- By:
- Publication type:
- Article