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LANCET, ISSN 0140-6736, 10/2008, Volume 372, Issue 9647, pp. 1427 - 1435
Journal Article
Pediatric radiology, ISSN 0301-0449, 08/2019, pp. 1 - 5
Sakoda complex is a rare but distinct combination of birth defects consisting of a basal cephalocele, agenesis of the corpus callosum, and midline cleft... 
Encephalocele | Magnetic resonance imaging | Congenital defects | Abnormalities | Epilepsy | Fetuses | Cognitive ability | Birth defects | Corpus callosum | Cleft lip/palate
Journal Article
Genetics in Medicine, ISSN 1098-3600, 12/2018, Volume 20, Issue 12, pp. 1538 - 1543
Purpose: Congenital central hypoventilation syndrome (CCHS, OMIM 209880) is a rare autosomal dominant disorder caused by mutation in PHOX2B that manifests as a... 
congenital heart disease | congenital central hypoventilation syndrome | aortic arch | cardiac neural crest cell | PHOX2B | CENTRAL HYPOVENTILATION SYNDROME | MIGRATION | CELLS | CARDIAC NEURAL CREST | MOUSE | PHENOTYPE | DYSREGULATION | GENETICS & HEREDITY | ABLATION | Index Medicus
Journal Article
Lancet, The, ISSN 0140-6736, 2008, Volume 372, Issue 9647, pp. 1427 - 1435
Summary Fabry's disease is an X-linked lysosomal storage disorder caused by abnormalities in the GLA gene, which leads to a deficiency in α-galactosidase A.... 
Internal Medicine | alpha-Galactosidase - genetics | alpha-Galactosidase - therapeutic use | Fabry Disease - epidemiology | Humans | Sex Factors | Fabry Disease - physiopathology | Female | Male | alpha-Galactosidase - metabolism | Fabry Disease - therapy | Fabry Disease - diagnosis | Care and treatment | Genetic aspects | Diagnosis | Fabry's disease | Risk factors
Journal Article
Clinical Pediatrics, ISSN 0009-9228, 05/2016, Volume 55, Issue 5, p. 421
  Children with Down syndrome (DS) have increased risk for multiple medical conditions with published health care guidelines. Current guidelines do not specify... 
Risk assessment | Perceptions | Down syndrome | Comparative analysis | Children & youth
Journal Article
Journal Article
Journal Article
Prenatal Diagnosis, ISSN 0197-3851, 12/2013, Volume 33, Issue 12, pp. 1211 - 1213
Journal Article
Annals of Internal Medicine, ISSN 0003-4819, 01/2007, Volume 146, Issue 2, pp. 77 - 86
Journal Article
Genetics in medicine : official journal of the American College of Medical Genetics, ISSN 1098-3600, 05/2019
Historically, medical geneticists and genetic counselors have provided the majority of genetic services. Advances in technology, reduction in testing costs,... 
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 02/2019, Volume 126, Issue 2, pp. S89 - S89
Journal Article
Human mutation, ISSN 1059-7794, 2015, Volume 36, Issue 4, pp. 454 - 462
Journal Article