Found: 20
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Two siblings with triple A syndrome and novel mutation presenting as hereditary polyneuropathy.
- Published in:
- 2011
- By:
- Publication type:
- journal article
Croatia Needs a Gender Incongruence Diagnosis for Prepubertal Children.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Primary hypothyroidism and nipple hypoplasia in a girl with Wolcott-Rallison syndrome.
- Published in:
- European Journal of Pediatrics, 2014, v. 173, n. 4, p. 529, doi. 10.1007/s00431-013-2189-y
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- Publication type:
- Article
Long-term clinical follow-up and molecular genetic findings in eight patients with triple A syndrome.
- Published in:
- European Journal of Pediatrics, 2012, v. 171, n. 10, p. 1453, doi. 10.1007/s00431-012-1745-1
- By:
- Publication type:
- Article
Xerostomia in patients with triple A syndrome--a newly recognised finding.
- Published in:
- 2000
- By:
- Publication type:
- journal article
Relative Frequency of Islet Autoimmunity in Children and Adolescents with Autoimmune Thyroid Disease.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2023, v. 15, n. 4, p. 348, doi. 10.4274/jcrpe.galenos.2023.2023-10-18
- By:
- Publication type:
- Article
Two Single Nucleotide Deletions in the ABCD1 Gene Causing Distinct Phenotypes of X-Linked Adrenoleukodystrophy.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 6, p. 5957, doi. 10.3390/ijms24065957
- By:
- Publication type:
- Article
Testicular adrenal rest tumors in congenital adrenal hyperplasia-cross-sectional study of 51 Croatian male patients.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Corrigendum: Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome).
- Published in:
- 2006
- By:
- Publication type:
- Correction Notice
Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome).
- Published in:
- Nature Genetics, 2005, v. 37, n. 12, p. 1345, doi. 10.1038/ng1681
- By:
- Publication type:
- Article
Report of fertility in a woman with a predominantly 46,XY karyotype in a family with multiple disorders of sexual development.
- Published in:
- 2008
- By:
- Publication type:
- journal article
Fertility and sexual activity in patients with Triple A syndrome.
- Published in:
- Frontiers in Endocrinology, 2024, p. 01, doi. 10.3389/fendo.2024.1357084
- By:
- Publication type:
- Article
The prevalence and genotype of 21-hydroxylase deficiency in the Croatian Romani population.
- Published in:
- Frontiers in Endocrinology, 2023, p. 01, doi. 10.3389/fendo.2023.1170449
- By:
- Publication type:
- Article
The effect of 17 years of increased salt iodization on the prevalence and nature of goiter in Croatian schoolchildren.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2018, v. 31, n. 9, p. 995, doi. 10.1515/jpem-2018-0129
- By:
- Publication type:
- Article
Successful Treatment of Diffuse Large B-Cell Non-Hodgkin Lymphoma with Modified CHOP (Cyclophosphamide/Doxorubicin/Vincristine/ Prednisone) Chemotherapy and Rituximab in a Patient with Nijmegen Syndrome.
- Published in:
- Clinical Lymphoma & Myeloma, 2007, v. 7, n. 9, p. 590
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- Publication type:
- Article
Endokrinološka terapija transseksualnih osoba u pubertetu i adolescenciji.
- Published in:
- Paediatria Croatica, Supplement, 2016, v. 60, p. 49
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- Publication type:
- Article
Nonclassic 21-HydroxyIase Deficiency in Croatia.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2004, v. 17, n. 2, p. 157
- By:
- Publication type:
- Article
Incidence of type 1 diabetes mellitus in 0 to 14-yr-old children in Croatia - 2004 to 2012 study.
- Published in:
- Pediatric Diabetes, 2015, v. 16, n. 6, p. 448, doi. 10.1111/pedi.12197
- By:
- Publication type:
- Article
Alteration of DNA binding, dimerization, and nuclear translocation of SHOX homeodomain mutations identified in idiopathic short stature and Leri-Weill dyschondrosteosis.
- Published in:
- Human Mutation, 2005, v. 26, n. 1, p. 44, doi. 10.1002/humu.20187
- By:
- Publication type:
- Article
Positive effects of growth hormone treatment on craniofacial morphology in Tuner syndrome patients.
- Published in:
- Bulletin of the International Association for Paleodontology, 2014, v. 8, n. 1, p. 143
- By:
- Publication type:
- Article