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Human Reproduction, ISSN 0268-1161, 11/2016, Volume 31, Issue 11, p. 2651
STUDY QUESTION: Do BRCA1/2 mutation carriers have a compromised ovarian reserve compared to proven non-carriers, based on serum anti-Müllerian hormone (AMH)... 
Journal Article
Journal Article
Genetics in medicine : official journal of the American College of Medical Genetics, 10/2016
Whole-exome sequencing (WES) provides the possibility of genome-wide preconception carrier screening (PCS). Here, we propose a filter strategy to rapidly... 
Journal Article
Brain, ISSN 0006-8950, 2012, Volume 135, Issue 3, pp. 723 - 735
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 10/2013, Volume 369, Issue 16, pp. 1529 - 1536
Journal Article
Journal Article
Lancet Neurology, The, ISSN 1474-4422, 2013, Volume 12, Issue 7, pp. 659 - 668
Journal Article
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 10/2018, Volume 27, Issue 20, pp. 3475 - 3487
Proteoglycans are among the most abundant and structurally complex biomacromolecules and play critical roles in connective tissues. They are composed of a core... 
Gene Expression | Humans | Child, Preschool | Infant | Male | Enzyme Assays | Whole Exome Sequencing | Life Sciences | Phenotype | Galactosyltransferases | Adult | Female | Genetics | High-Throughput Nucleotide Sequencing | Mutation | Child | Ehlers-Danlos Syndrome | Human genetics | Cancer
Journal Article