Found: 26
Select item for more details and to access through your institution.
A novel mutation in the anti-müllerian hormone gene as cause of persistent müllerian duct syndrome.
- Published in:
- 2001
- By:
- Publication type:
- journal article
Acute cataracts in newly diagnosed IDDM in five children and adolescents.
- Published in:
- 1995
- By:
- Publication type:
- Case Study
Reply to comment on: Biason-Lauber A, Boehm B, Lang-Muritano M et al. (2005) Association of childhood type 1 diabetes mellitus with a variant of PAX4: possible link to beta cell regenerative capacity. Diabetologia 48:900–905.
- Published in:
- 2005
- By:
- Publication type:
- Letter
Association of childhood type 1 diabetes mellitus with a variant of PAX4: possible link to beta cell regenerative capacity.
- Published in:
- Diabetologia, 2005, v. 48, n. 5, p. 900, doi. 10.1007/s00125-005-1723-5
- By:
- Publication type:
- Article
Epidemiology of Type I diabetes mellitus in Switzerland: steep rise in incidence in under 5 year old children in the past decade.
- Published in:
- Diabetologia, 2001, v. 44, n. 3, p. 286, doi. 10.1007/s001250051615
- By:
- Publication type:
- Article
A novel mutation inducing partial androgen–insensitivity syndrome with phenotypic diversity.
- Published in:
- BJU International, 2003, v. 92, p. e34, doi. 10.1111/j.1464-410X.2003.04030.x
- By:
- Publication type:
- Article
Genetic testing facilitates prepubertal diagnosis of congenital hypogonadotropic hypogonadism.
- Published in:
- Clinical Genetics, 2017, v. 92, n. 2, p. 213, doi. 10.1111/cge.12996
- By:
- Publication type:
- Article
Characteristics of Growth in Children With Classic Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency During Adrenarche and Beyond.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 2, p. e487, doi. 10.1210/clinem/dgab701
- By:
- Publication type:
- Article
When genetic load does not correlate with phenotypic spectrum: lessons from the GnRH receptor (GNRHR).
- Published in:
- 2012
- By:
- Publication type:
- journal article
Clinical, genetic, and functional characterization of four patients carrying partial loss-of-function mutations in the steroidogenic acute regulatory protein (StAR).
- Published in:
- 2010
- By:
- Publication type:
- journal article
P450c17 Deficiency: Clinical and Molecular Characterization of Six Patients.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2007, v. 92, n. 3, p. 1000, doi. 10.1210/jc.2006-1486
- By:
- Publication type:
- Article
Atypical familial diabetes associated with a novel NEUROD1 nonsense variant.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2023, v. 36, n. 1, p. 101, doi. 10.1515/jpem-2022-0356
- By:
- Publication type:
- Article
Double variants in TSHR and DUOX2 in a patient with hypothyroidism: case report.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2019, v. 32, n. 11, p. 1299, doi. 10.1515/jpem-2019-0051
- By:
- Publication type:
- Article
A novel GATA6 variant in a boy with neonatal diabetes and diaphragmatic hernia: a familial case with a review of the literature.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2019, v. 32, n. 9, p. 1027, doi. 10.1515/jpem-2019-0057
- By:
- Publication type:
- Article
Natural history of Wolcott‐Rallison syndrome: A systematic review and follow‐up study.
- Published in:
- Liver International, 2024, v. 44, n. 3, p. 811, doi. 10.1111/liv.15834
- By:
- Publication type:
- Article
Incidence of enteropathy-associated T-cell lymphoma in celiac disease: implications for children and adolescents with type 1 diabetes.
- Published in:
- Pediatric Diabetes, 2002, v. 3, n. 1, p. 42, doi. 10.1034/j.1399-5448.2002.30108.x
- By:
- Publication type:
- Article
DCC/NTN1 complex mutations in patients with congenital hypogonadotropic hypogonadism impair GnRH neuron development.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 2, p. 359, doi. 10.1093/hmg/ddx408
- By:
- Publication type:
- Article
The Aldosterone/Renin Ratio as a Diagnostic Tool for the Diagnosis of Primary Hypoaldosteronism in Newborns and Infants.
- Published in:
- Hormone Research in Paediatrics, 2015, v. 84, n. 1, p. 43, doi. 10.1159/000381852
- By:
- Publication type:
- Article
Clinical, Genetic and Functional Characteristics of Three Novel CYP17A1 Mutations Causing Combined 17α-Hydroxylase/17,20-Lyase Deficiency.
- Published in:
- Hormone Research in Paediatrics, 2010, v. 73, n. 3, p. 198, doi. 10.1159/000284362
- By:
- Publication type:
- Article
Loss of kinase activity in a patient with Wolcott-Rallison syndrome caused by a novel mutation in the EIF2AK3 gene.
- Published in:
- 2002
- By:
- Publication type:
- journal article
Exome sequencing identifies a de novo FOXA2 variant in a patient with syndromic diabetes.
- Published in:
- Pediatric Diabetes, 2019, v. 20, n. 3, p. 366, doi. 10.1111/pedi.12814
- By:
- Publication type:
- Article
Transient severe non-proliferative retinopathy in an adolescent with type 1 diabetes and chronic myeloid leukemia.
- Published in:
- Pediatric Diabetes, 2013, v. 14, n. 3, p. 227, doi. 10.1111/j.1399-5448.2012.00901.x
- By:
- Publication type:
- Article
Improved glycemic control and lower frequency of severe hypoglycemia with insulin detemir; long-term experience in 105 children and adolescents with type 1 diabetes.
- Published in:
- Pediatric Diabetes, 2008, v. 9, n. 4pt2, p. 382, doi. 10.1111/j.1399-5448.2008.00371.x
- By:
- Publication type:
- Article
Epidermolysis bullosa junctionalis progressiva in three siblings.
- Published in:
- British Journal of Dermatology, 1993, v. 128, n. 4, p. 429, doi. 10.1111/j.1365-2133.1993.tb00204.x
- By:
- Publication type:
- Article
Early-Onset Complete Ovarian Failure and Lack of Puberty in a Woman With Mutated Estrogen Receptor β (ESR2).
- Published in:
- 2018
- By:
- Publication type:
- journal article
Aromatase deficiency owing to a functional variant in the placenta promoter and a novel missense mutation in the CYP19A1 gene.
- Published in:
- Clinical Endocrinology, 2011, v. 75, n. 1, p. 39, doi. 10.1111/j.1365-2265.2011.04012.x
- By:
- Publication type:
- Article