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International Journal of Dermatology, ISSN 0011-9059, 06/2016, Volume 55, Issue 6, pp. 687 - 690
Journal Article
BIOMEDICAL PAPERS-OLOMOUC, ISSN 1213-8118, 2014, Volume 158, Issue 2, pp. 321 - 325
Aims. Trisomy of chromosome 21 is associated with Down syndrome (DS) - the commonest genetic cause of mental retardation. We report two unusual cases with... 
partial trisomy/tetrasomy of chromosome 21 | MEDICINE, RESEARCH & EXPERIMENTAL | TRANSLOCATION | GENE | DISEASE | FISH | Down syndrome | Down syndrome critical region (DSCR) | MOLECULAR DEFINITION | REGION | FEATURES | Phenotype | Trisomy | Humans | Down Syndrome - genetics | Child, Preschool | Genotype | Infant | Male | Tetrasomy | Chromosomes, Human, Pair 21 | Karyotype
Journal Article
Diabetes, ISSN 0012-1797, 12/2009, Volume 58, Issue 12, pp. 2954 - 2961
Journal Article
Cesko-Slovenska Pediatrie, ISSN 0069-2328, 2004, Volume 59, Issue 8, pp. 415 - 419
Journal Article
Diabetes, ISSN 0012-1797, 12/2009, Volume 58, Issue 12, p. 2954
Severe Insulin Resistance and Intrauterine Growth Deficiency Associated With Haploinsufficiency for INSR and CHN2 New Insights Into Synergistic Pathways... 
Journal Article
Diabetes, ISSN 0012-1797, 08/2009, Volume 58, Issue 8, pp. 1929 - 1935
OBJECTIVE--Inactivating mutations in glucokinase (GCK) cause mild fasting hyperglycemia. Identification of a GCK mutation has implications for treatment and... 
Hyperglycemia | Promoters (Genetics) | Gene mutations | Glucokinase | Causes of | Physiological aspects | Genetic aspects | Research | Health aspects
Journal Article
Diabetes, ISSN 0012-1797, 08/2009, Volume 58, Issue 8, p. 1929
  Inactivating mutations in glucokinase (GCK) cause mild fasting hyperglycemia. Identification of a GCK mutation has implications for treatment and prognosis;... 
Journal Article
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