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American Journal of Medical Genetics Part A, ISSN 1552-4825, 11/2015, Volume 167, Issue 11, pp. 2684 - 2684
Journal Article
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 11/2015, Volume 167, Issue 11, pp. 2684 - 2684
Journal Article
Nature Genetics, ISSN 1061-4036, 08/2012, Volume 44, Issue 8, pp. 934 - 940
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 07/2011, Volume 155, Issue 7, pp. 1773 - 1774
Journal Article
GENETICS IN MEDICINE, ISSN 1098-3600, 11/2018, Volume 20, Issue 11, pp. 1334 - 1345
Purpose: Standardized and accurate variant assessment is essential for effective medical care. To that end, Clinical Genome (ClinGen) Resource clinical domain... 
NOONAN SYNDROME | ClinGen | RASopathy | Noonan | variant interpretation | GUIDELINES | GENETICS & HEREDITY | LABORATORIES | MUTATIONS | Ras/MAPK
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 06/2019, Volume 104, Issue 6, p. 1139
Zimmermann-Laband syndrome (ZLS) is characterized by coarse facial features with gingival enlargement, intellectual disability (ID), hypertrichosis, and... 
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 06/2019, Volume 104, Issue 6, pp. 1139 - 1157
Zimmermann-Laband syndrome (ZLS) is characterized by coarse facial features with gingival enlargement, intellectual disability (ID), hypertrichosis, and... 
Journal Article
Cell, ISSN 0092-8674, 03/2018, Volume 173, Issue 1, pp. 90 - 103.e19
Journal Article
Genetics in Medicine, ISSN 1098-3600, 09/2011, p. 1
Journal Article
Nature Genetics, ISSN 1061-4036, 2012, Volume 44, Issue 4, pp. 440 - 444, S1-2
Journal Article
Circulation, ISSN 0009-7322, 11/2016, Volume 134, Issue Suppl_1 Suppl 1, pp. A18770 - A18770
IntroductionNoonan syndrome (NS) is an autosomal dominant disorder with a characteristic clinical phenotype of facial dysmorphisms, short stature, and... 
Journal Article
Journal Article