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Nature Genetics, ISSN 1061-4036, 08/2012, Volume 44, Issue 8, pp. 934 - 940
Journal Article
Human Mutation, ISSN 1059-7794, 10/2019, Volume 40, Issue 10, pp. 1676 - 1683
A subset of a larger and heterogeneous class of disorders, the congenital myasthenic syndromes (CMS) are caused by pathogenic variants in genes encoding... 
SLC5A7 | fetal akinesia syndrome | high‐affinity choline transporter 1 | congenital myasthenia syndrome | autosomal recessive | Phenotypes | Genetic counseling | Akinesia | Sodium | Congenital defects | Choline | Fetuses | Neuromuscular junctions | Affinity | Myasthenia | Genotypes
Journal Article
Circulation, ISSN 0009-7322, 11/2018, Volume 138, Issue Suppl_1 Suppl 1, pp. A16200 - A16200
IntroductionDouble outlet right ventricle (DORV) is a heterogenous group of congenital heart defects (CHD) that is increasingly diagnosed prenatally. There is... 
Journal Article
Pediatric Research, ISSN 0031-3998, 01/2017, Volume 81, Issue 1-2, pp. 177 - 191
Journal Article
Journal Article
Journal of Obstetrics and Gynaecology Canada (JOGC), ISSN 1701-2163, 2016, Volume 38, Issue 7, pp. 619 - 626
Abstract Objectives To examine the diagnostic performance of array comparative genomic hybridization (CGH) for fetal cardiac anomalies in two medium-sized... 
Obstetrics and Gynecology | genetic counselling | Array comparative genomic hybridization | prenatal diagnosis | congenital heart defects | Canada | Fetus | Comparative Genomic Hybridization | Humans | Karyotyping | Prenatal Diagnosis
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 05/2017, Volume 100, Issue 5, pp. 773 - 788
Journal Article
Brain, ISSN 0006-8950, 2017, Volume 140, Issue 10, pp. 2610 - 2622
Journal Article
International journal of pediatric endocrinology, ISSN 1687-9848, 2016, Volume 2016, Issue 1, p. 12
17β-hydroxysteroid dehydrogenase type 3 (17βHSD3) deficiency is a rare cause of disorder of sex development (DSD) due to impaired conversion of androstenedione... 
Testosterone | Usage | Care and treatment | Chromosomes | Health aspects | Genetic screening | Sex differentiation disorders | Disorders of sex development | 17β-hydroxysteroid dehydrogenase type 3 deficiency | Case Report | 46,XY undervirilization
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 11/2005, Volume 138A, Issue 4, pp. 307 - 313
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 05/2012, Volume 90, Issue 5, pp. 925 - 933
Journal Article