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Nature, ISSN 0028-0836, 06/2010, Volume 465, Issue 7299, pp. 808 - 812
Journal Article
American Journal of Medical Genetics, Part A, ISSN 1552-4825, 01/2012, Volume 158, Issue 1, pp. 166 - 173
  Loss-of-function mutations of GLI2 are associated with features at the mild end of the holoprosencephaly spectrum, including abnormal pituitary gland... 
Deletion | Heterotaxy | Array comparative genomic hybridization | Holoprosencephaly | GLI2
Journal Article
NATURE COMMUNICATIONS, ISSN 2041-1723, 04/2019, Volume 10, Issue 1, pp. 1477 - 8
Phenotypic and biochemical categorization of humans with detrimental variants can provide valuable information on gene function. We illustrate this with the... 
ANIRIDIA | DIAGNOSIS | METABOLISM | GENE | ACIDS | ABNORMALITIES | MULTIDISCIPLINARY SCIENCES | PURIFICATION | DISORDERS | EXPRESSION | D-LACTIC ACIDOSIS | Excretion | Dehydrogenases | Lactate dehydrogenase | Zebrafish | Short bowel syndrome | Dehydrogenase | Metabolism | Patients | L-Lactate dehydrogenase | Intestine | Differential diagnosis | Lactic acid | Acidosis | Human behavior | Lactic acidosis
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 10/2013, Volume 369, Issue 16, pp. 1529 - 1536
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 2011, Volume 89, Issue 4, pp. 551 - 563
Journal Article
The Journal of clinical investigation, ISSN 0021-9738, 09/2019
Myocardin (MYOCD) is the founding member of a class of transcriptional co-activators that bind serum response factor to activate gene expression programs... 
Index Medicus | Abridged Index Medicus
Journal Article
Genetics in Medicine, ISSN 1098-3600, 09/2016, Volume 18, Issue 9, pp. 914 - 923
Journal Article
Rheumatology (Oxford, England), ISSN 1462-0324, 2016, Volume 55, Issue 5, pp. 902 - 910
Journal Article
Journal Article
Human Mutation, ISSN 1059-7794, 2012, Volume 33, Issue 8, pp. 1175 - 1181
Journal Article