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The American Journal of Human Genetics, ISSN 0002-9297, 12/2015, Volume 97, Issue 6, pp. 894 - 903
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 01/2017, Volume 376, Issue 1, pp. 83 - 85
An accurate diagnosis is essential for effective medical management; in the case of rare genetic disease, it also guides genetic counseling. Nevertheless,... 
MEDICINE, GENERAL & INTERNAL | DISEASE | Time Factors | Humans | Genetic disorders | Diagnosis | Patients | Health aspects | Genetics | Medical diagnosis | Genetic screening
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 12/2015, Volume 97, Issue 6, pp. 886 - 893
Journal Article
Nature Genetics, ISSN 1061-4036, 08/2012, Volume 44, Issue 8, pp. 934 - 940
Journal Article
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 10/2016, Volume 375, Issue 14, pp. 1355 - 1364
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 05/2012, Volume 90, Issue 5, pp. 925 - 933
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2014, Volume 95, Issue 5, pp. 602 - 610
Journal Article
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 12/2018, Volume 178, Issue 4, pp. 382 - 386
Due to the efforts of the clinical and scientific communities and boosted by recent advances in genetic technologies, we now understand the molecular... 
associations | malformations | molecular mechanisms | syndromes | IRDiRC | unsolved rare diseases | DEFECTS | MUTATION | GENETICS & HEREDITY | Consortia | Heterogeneity | Molecular modelling | Disorders | Data retrieval | Epigenetics | Mosaicism | New technology | Diagnosis
Journal Article
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 12/2018, Volume 178, Issue 4, pp. 387 - 397
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 01/2015, Volume 96, Issue 1, pp. 121 - 135
Journal Article