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The American Journal of Human Genetics, ISSN 0002-9297, 02/2015, Volume 96, Issue 2, pp. 245 - 257
Journal Article
European journal of human genetics, ISSN 1018-4813, 2010, Volume 18, Issue 8, pp. 872 - 880
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 2017, Volume 173, Issue 6, pp. 1620 - 1624
Journal Article
Molecular Syndromology, ISSN 1661-8769, 09/2012, Volume 3, Issue 3, pp. 113 - 119
Mitochondrial disorders are a heterogeneous group of disorders affecting energy production of the body. Different consensus diagnostic criteria for... 
Original Article | Prevalence | Lactate | Diagnostic criteria | Mitochondrial disease | Original
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 2019, Volume 27, Issue 11, pp. 1649 - 1658
Imprinting disorders (ImpDis) represent a small group of rare congenital diseases primarily affecting growth, development, and the hormonal and metabolic... 
MORTALITY | BECKWITH-WIEDEMANN-SYNDROME | MOLECULAR DIAGNOSIS | ABNORMALITIES | BIOCHEMISTRY & MOLECULAR BIOLOGY | SILVER-RUSSELL | FREQUENCY | GENETICS & HEREDITY | ANGELMAN-SYNDROME | MALFORMATION SYNDROMES | PRADER-WILLI-SYNDROME | BIRTH PREVALENCE | Neonates | Puberty | Myoclonus | Diabetes mellitus | Imprinting | Menopause | Dystonia
Journal Article
Molecular Syndromology, ISSN 1661-8769, 09/2011, Volume 1, Issue 6, pp. 311 - 315
Background: Females with a total or partial deletion of the short arm of the X chromosome have variable features of Turner syndrome, but mental retardation... 
Original Article | Ornithine transcarbamylase (OTC) deficiency | Skewed X-inactivation | Turner syndrome | Mental retardation | Xp deletion | Original
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 2015, Volume 96, pp. 245 - 257
We studied a group of individuals with elevated urinary excretion of 3-methylglutaconic acid, neutropenia that can develop into leukemia, a neurological... 
Journal Article
Genetic Testing and Molecular Biomarkers, ISSN 1945-0265, 08/2012, Volume 16, Issue 8, pp. 846 - 849
Journal Article
International Journal of Pediatric Otorhinolaryngology, ISSN 0165-5876, 2008, Volume 73, Issue 1, pp. 103 - 107
Journal Article
Journal Article