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PEDIATRIC RESEARCH, ISSN 0031-3998, 10/2019, Volume 86, Issue 4, pp. 428 - 431
Journal Article
PLoS Biology, ISSN 1544-9173, 09/2016, Volume 14, Issue 9, p. e2000494
Journal Article
Journal of the American College of Cardiology, ISSN 0735-1097, 03/2015, Volume 65, Issue 8, pp. 858 - 858
Journal Article
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 11/2014, Volume 371, Issue 22, pp. 2061 - 2071
Journal Article
Nature, ISSN 0028-0836, 06/2010, Volume 465, Issue 7299, pp. 808 - 812
Journal Article
Current Opinion in Cardiology, ISSN 0268-4705, 05/2016, Volume 31, Issue 3, pp. 235 - 241
PURPOSE OF REVIEWThe goal of this review is to highlight recent discoveries in the field of genetics as it relates to congenital heart disease (CHD). Recent... 
Genetics | Congenital heart disease | Oligogenic | Next generation sequencing | Heart Defects, Congenital - genetics | Gene-Environment Interaction | Humans | Neurodevelopmental Disorders - etiology | DNA Copy Number Variations | congenital heart disease | genetics | next generation sequencing | oligogenic
Journal Article
Circulation, ISSN 0009-7322, 11/2015, Volume 132, Issue Suppl_3 Suppl 3, pp. A16484 - A16484
TitleThe Transcriptional Repressor NR1D2 is Associated with Congenital Heart Disease and Plays an Evolutionarily Conserved Role in Cardiac... 
Journal Article
Best Practice & Research: Clinical Endocrinology & Metabolism, ISSN 1521-690X, 2010, Volume 25, Issue 1, pp. 161 - 179
Noonan syndrome is a relatively common, clinically variable developmental disorder. Cardinal features include postnatally reduced growth, distinctive facial... 
Endocrinology & Metabolism | pathogenetic mechanisms | Noonan syndrome | genotype-phenotype correlations | diagnosis | Noonan-like syndrome with loose anagen hair | LEOPARD syndrome | RAS signaling | patient management | CBL mutation-associated syndrome | LEOPARD-SYNDROME | SOMATIC PTPN11 MUTATIONS | GROWTH-HORMONE TREATMENT | OF-FUNCTION MUTATIONS | RAS SUPERFAMILY | PHENOTYPIC SPECTRUM | SHP2 MUTATIONS | ENDOCRINOLOGY & METABOLISM | JUVENILE MYELOMONOCYTIC LEUKEMIA | GERMLINE MUTATIONS | MYELODYSPLASTIC SYNDROMES | Loose Anagen Hair Syndrome - genetics | Costello Syndrome - diagnosis | Humans | LEOPARD Syndrome - genetics | Infant | Heart Defects, Congenital - genetics | Facies | SOS1 Protein - genetics | Failure to Thrive - diagnosis | Neurofibromatosis 1 - genetics | Child | Intracellular Signaling Peptides and Proteins - genetics | Noonan Syndrome - diagnosis | Proto-Oncogene Proteins c-cbl - genetics | Failure to Thrive - genetics | Proto-Oncogene Proteins c-raf - genetics | Ectodermal Dysplasia - diagnosis | Noonan Syndrome - genetics | Loose Anagen Hair Syndrome - diagnosis | Costello Syndrome - genetics | Proto-Oncogene Proteins B-raf - genetics | Adolescent | LEOPARD Syndrome - diagnosis | Heart Defects, Congenital - diagnosis | Mitogen-Activated Protein Kinases - genetics | Ectodermal Dysplasia - genetics | Protein Tyrosine Phosphatase, Non-Receptor Type 11 - genetics | Proteins | Developmental biology | Protein kinases
Journal Article
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