Found: 23
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A Novel Nonsense Mutation of the AGL Gene in a Romanian Patient with Glycogen Storage Disease Type IIIa.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
Association between Cardiac Malformations and Karyotype in Turner Syndrome - a Single Centre Study.
- Published in:
- Romanian Journal of Cardiology, 2021, v. 31, n. 4, p. 847, doi. 10.47803/rjc.2020.31.4.847
- By:
- Publication type:
- Article
21-Hydroxylase and 11β-hydroxylase mutations in Romanian patients with classic congenital adrenal hyperplasia.
- Published in:
- 2005
- By:
- Publication type:
- journal article
Gaucher disease in Romanian patients: incidence of the most common mutations and phenotypic manifestations.
- Published in:
- European Journal of Human Genetics, 2002, v. 10, n. 9, p. 511, doi. 10.1038/sj.ejhg.5200845
- By:
- Publication type:
- Article
The c.301_302delAG PROP1 gene mutation in Romanian patients with multiple pituitary hormone deficiency.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2015, v. 28, n. 9/10, p. 993, doi. 10.1515/jpem-2014-0289
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- Publication type:
- Article
Three New 46,XX Male Patients: A Clinical, Cytogenetic and Molecular Analysis.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2005, v. 18, n. 2, p. 197, doi. 10.1515/jpem.2005.18.2.197
- By:
- Publication type:
- Article
Mutational Analysis and Genotype-Phenotype Correlation in Patients with Classic 21-Hydroxylase Deficiency from Transylvania (North-West Romania).
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2002, v. 15, n. 9, p. 1505, doi. 10.1515/jpem.2002.15.9.1505
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- Publication type:
- Article
Dynamic changes of lipid profile in Romanian patients with Gaucher disease type 1 under enzyme replacement therapy: a prospective study.
- Published in:
- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 3, p. 555, doi. 10.1007/s10545-012-9529-3
- By:
- Publication type:
- Article
Alterations in Lipid and Carbohydrate Metabolism in Patients with Classic Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.
- Published in:
- Hormone Research in Paediatrics, 2010, v. 74, n. 1, p. 41, doi. 10.1159/000313368
- By:
- Publication type:
- Article
Molecular and Cytogenetic Analysis of Romanian Patients with Differences in Sex Development.
- Published in:
- Diagnostics (2075-4418), 2021, v. 11, n. 11, p. 2107, doi. 10.3390/diagnostics11112107
- By:
- Publication type:
- Article
Cardiac Manifestations in a Group of Romanian Patients with Gaucher Disease Type 1 (a Monocentric Study).
- Published in:
- Diagnostics (2075-4418), 2021, v. 11, n. 6, p. 989, doi. 10.3390/diagnostics11060989
- By:
- Publication type:
- Article
Cholelithiasis in Patients with Gaucher Disease type 1: Risk Factors and the Role of ABCG5/ABCG8 Gene Variants.
- Published in:
- Journal of Gastrointestinal & Liver Diseases, 2016, v. 25, n. 4, p. 447, doi. 10.15403/jgld.2014.1121.254.zim
- By:
- Publication type:
- Article
Problems in the Diagnosis of Cyclic Vomiting Syndrome in Children.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
OSTEOARTHROPATHY IN MUCOPOLYSACCHARIDOSIS TYPE II.
- Published in:
- Clujul Medical, 2013, v. 86, n. 3, p. 270
- By:
- Publication type:
- Article
STRUCTURA ETIOPATOGENETICĂ A ARTROPATIILOR CRONICE LA COPIL.
- Published in:
- Clujul Medical, 2012, v. 85, n. 4, p. 634
- By:
- Publication type:
- Article
ORIGINEA PARENTALĂ A CROMOZOMULUI X ÎN SINDROMUL TURNER.
- Published in:
- 2011
- By:
- Publication type:
- Case Study
DISLIPIDEMIA LA COPIII ŞI ADOLESCENŢII OBEZI.
- Published in:
- Clujul Medical, 2010, v. 83, n. 1, p. 166
- By:
- Publication type:
- Article
POLIMORFISMUL APOPROTEINEI E LA PACIENŢII CU BOALĂGAUCHER TIP I.
- Published in:
- Clujul Medical, 2009, v. 82, n. 4, p. 586
- By:
- Publication type:
- Article
TULBURĂRI DE GLICOREGLARE LA COPIII ŞI ADOLESCENŢII OBEZI.
- Published in:
- Clujul Medical, 2009, v. 82, n. 4, p. 557
- By:
- Publication type:
- Article
ACIDOZA TUBULARĂ RENALĂ DISTALĂ - OBSERVAŢIA A DOUĂ CAZURI ÎNTR-O FRATRIE.
- Published in:
- Clujul Medical, 2009, v. 82, n. 3, p. 437
- By:
- Publication type:
- Article
TIROIDITA AUTOIMUNĂ LA COPIII ŞI ADOLESCENŢII CU DIABET ZAHARAT TIP 1.
- Published in:
- Clujul Medical, 2009, v. 82, n. 2, p. 270
- By:
- Publication type:
- Article
Gene variants of osteoprotegerin, estrogen-, calcitonin- and vitamin D-receptor genes and serum markers of bone metabolism in patients with Gaucher disease type 1.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Clinical and genetic characteristics in a group of 45 patients with Turner syndrome (monocentric study).
- Published in:
- Therapeutics & Clinical Risk Management, 2017, v. 13, p. 613, doi. 10.2147/TCRM.S126301
- By:
- Publication type:
- Article