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Current Opinion in Genetics & Development, ISSN 0959-437X, 2008, Volume 18, Issue 3, pp. 241 - 250
Journal Article
Nature Reviews Genetics, ISSN 1471-0056, 2005, Volume 6, Issue 1, pp. 46 - 57
Journal Article
Nature, ISSN 0028-0836, 10/2011, Volume 478, Issue 7367, pp. 57 - 63
Journal Article
Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 2015, Volume 58, Issue 12, pp. 715 - 718
Abstract De novo loss of function (LOF) mutations in the ASXL 3 gene cause Bainbridge-Ropers syndrome, a severe form of intellectual disability (ID) and... 
Medical Education | BOHRING-OPITZ SYNDROME | VARIANTS | MAP | ASXL3 | NOVO | GENETICS & HEREDITY | Genetic Association Studies | Humans | Databases, Genetic | Penetrance | Developmental Disabilities - genetics | Mutation | Web Browser | Haploinsufficiency | Genetic aspects | Molecular genetics | Genes | Medical genetics
Journal Article
PLoS ONE, ISSN 1932-6203, 08/2015, Volume 10, Issue 8, p. e0129631
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 05/2012, Volume 90, Issue 5, p. 847
With a prevalence between 1 and 3%, hereditary forms of intellectual disability (ID) are among the most important problems in health care. Particularly,... 
Enzymes | Memory | Nervous system | Learning disabilities | Mutation | Transfer RNA
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 09/2011, Volume 89, Issue 3, p. 407
Combinations of chromosome sorting and next-generation sequencing are used in order to search the disease-causing mutations in the MRT4 family and a second... 
Iranians | Usage | Gene mutations | Genetic aspects | Research | Diagnosis | Nucleotide sequencing | Mental illness
Journal Article
Human Mutation, ISSN 1059-7794, 12/2014, Volume 35, Issue 12, pp. 1427 - 1435
Journal Article