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Application of Clinical Genetics, ISSN 1178-704X, 05/2015, Volume 8, pp. 123 - 132
Chromosome 22q11 is characterized by the presence of chromosome-specific low-copy repeats or segmental duplications. This region of the chromosome is very... 
TBX1 | DiGeorge syndrome | Velocardiofacial syndrome | Gene mutations | Genetic disorders | Research | Genotype & phenotype | Pediatrics | Congenital diseases | Pathogenesis | Parkinsons disease | Gene expression | Chromosomes | Deoxyribonucleic acid--DNA
Journal Article
Journal of Clinical Research in Pediatric Endocrinology, ISSN 1308-5727, 10/2018
Journal Article
TURKISH JOURNAL OF PEDIATRICS, ISSN 0041-4301, 09/2018, Volume 60, Issue 5, pp. 581 - 583
Glycogen storage disease type 0 (GSD0) has been considered a rare disorder, it is characterized with ketotic hypoglycemia after prolonged fasting and... 
glycogen storage disease type 0 | PEDIATRICS | ketotic hypoglycemia | glycogen synthase 2 gene | DEFICIENCY
Journal Article
BMC Nephrology, ISSN 1471-2369, 07/2017, Volume 18, Issue 1, pp. 210 - 8
Journal Article
JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, ISSN 1308-5727, 03/2019, Volume 11, Issue 1, pp. 34 - 40
Objective: Vitamin D dependent rickets type 1A (VDDR1A) is an autosomal recessive disorder caused by mutations in the 1 alpha-hydroxylase gene (CYB27B1). As it... 
1 alpha hydroxylase | CYP27B1 | Vitamin D | CLONING | MUTATION | ENDOCRINOLOGY & METABOLISM | CYP27B1 gene | PEDIATRICS | vitamin D dependent rickets | Medical research | Rickets | Cytochrome P-450 | Medicine, Experimental | Calcifediol | Genetic aspects | Research | Alfacalcidol | Health aspects | Laboratories | Cloning | Vitamin deficiency | Mutation | Metabolism | Deoxyribonucleic acid--DNA | 1α hydroxylase | Original
Journal Article
JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, ISSN 1308-5727, 09/2019, Volume 11, Issue 3, pp. 306 - 310
Hypophosphatasia (HPP) is a rare disease caused by mutations in the ALPL gene encoding tissue-non-specific isoenzyme of alkaline phosphatase (TNSALP).... 
ALPL gene | enzyme replacement therapy | perinatal form | ENDOCRINOLOGY & METABOLISM | PEDIATRICS | Hypophosphatasia | duplication | Enzymes | Genetic aspects | Phosphatases | Health aspects | Genes | Biopharmaceutics | Ostomy | Mineralization | Consent | Ventilation | Mutation | Phosphatase | Patients | Deoxyribonucleic acid--DNA | Age | Pharmaceuticals | Case Report
Journal Article
Journal Article
Journal of Pediatric Endocrinology and Metabolism, ISSN 0334-018X, 08/2013, Volume 26, Issue 7-8, pp. 793 - 795
Journal Article
Clinical and Translational Allergy, ISSN 2045-7022, 03/2014, Volume 4, Issue S1, pp. P60 - P60
Journal Article
Clinical and Translational Allergy, ISSN 2045-7022, 03/2014, Volume 4, Issue S1, pp. P101 - P101
Journal Article
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