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The New England Journal of Medicine, ISSN 0028-4793, 03/2014, Volume 370, Issue 10, pp. 921 - 931
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 11/2015, Volume 125, Issue 11, pp. 4295 - 4304
Journal Article
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 09/2018, Volume 379, Issue 11, pp. 1042 - 1049
Journal Article
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 2014, Volume 124, Issue 5, pp. 2071 - 2075
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 10/2015, Volume 125, Issue 10, pp. 3757 - 3757
Noninvasive prenatal testing can be used to accurately detect chromosomal aneuploidies in circulating fetal DNA; however, the necessity of parental haplotype... 
Journal Article
Journal of medical genetics, ISSN 0022-2593, 05/2018
To identify the genetic basis of a childhood-onset syndrome of variable severity characterised by progressive spinocerebellar ataxia, mental retardation,... 
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 09/2018, Volume 55, Issue 9, p. 599
ObjectiveTo identify the genetic basis of a childhood-onset syndrome of variable severity characterised by progressive spinocerebellar ataxia, mental... 
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 11/2015, Volume 125, Issue 11, pp. 4295 - 4295
Ovarian development and maintenance are poorly understood; however, diseases that affect these processes can offer insights into the underlying mechanisms. XX... 
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 05/2014, Volume 124, Issue 5, pp. 2071 - 2071
The transcription factor steroidogenic factor 1 (SF-1; also known as NR5A1) is a crucial mediator of both steroidogenic and nonsteroidogenic tissue... 
Journal Article
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