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Nature genetics, ISSN 1546-1718, 2009, Volume 41, Issue 7, pp. 829 - 832
Journal Article
Nature genetics, ISSN 1546-1718, 2008, Volume 40, Issue 12, pp. 1466 - 1471
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 05/2010, Volume 47, Issue 5, pp. 332 - 341
Journal Article
The New England journal of medicine, ISSN 1533-4406, 2015, Volume 372, Issue 4, pp. 341 - 350
Journal Article
Genetics in medicine, ISSN 1530-0366, 2017, Volume 19, Issue 9, pp. 1040 - 1048
Purpose: Evaluation of the clinician's role in the optimal interpretation of clinical exome sequencing (ES) results. Methods: Retrospective chart review of the... 
genetic counseling | medical geneticist | Exome Clinic | exome sequencing | diagnostic yield | DEVELOPMENTAL DELAY | ATAXIA | VARIANT | GENOME | INCIDENTAL FINDINGS | HYPOTONIA | GENETICS & HEREDITY | MUTATIONS | Diagnostic Yield | Exome Sequencing | Genetic Counseling | Medical Geneticist
Journal Article
Journal of Occupational and Environmental Medicine, ISSN 1076-2752, 04/2019, Volume 61, Issue 4, pp. 263 - 270
Journal Article
European journal of human genetics : EJHG, ISSN 1018-4813, 2019, Volume 27, Issue 10, pp. 1611 - 1618
... intellectual disability and epilepsy David A. Dyment1,2 ● Paulien A. Terhal3 ● Cecilie F. Rustad 4 ● Kristian Tveten 5 ● Christopher Griffith6 ● Parul Jayakar7 ● Marwan... 
Genetics(clinical) | Genetics | CHANNELS | VARIANTS | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | Transient receptor potential proteins | Channel opening | Phenotypes | Coding | Intellectual disabilities | Epilepsy | Proline | Haploinsufficiency | Brief Communication | Medical genetics
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The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 02/2017, Volume 102, Issue 2, pp. 460 - 469
Journal Article
Human mutation, ISSN 1059-7794, 2010, Volume 31, Issue 7, pp. 840 - 850
Journal Article