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Human Mutation, ISSN 1059-7794, 01/2019, Volume 40, Issue 1, pp. 5 - 24
Journal Article
Journal Article
Pathology, ISSN 0031-3025, 2013, Volume 45, pp. S31 - S31
Journal Article
Australian Family Physician, ISSN 0300-8495, 09/2015, Volume 44, Issue 9, pp. 634 - 638
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Birth Defects Research Part A: Clinical and Molecular Teratology, ISSN 1542-0752, 11/2013, Volume 97, Issue 11, pp. 755 - 758
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Journal Article
Human Mutation, ISSN 1059-7794, 08/2018, Volume 39, Issue 8, pp. 1126 - 1138
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 05/2016, Volume 98, Issue 5, pp. 1001 - 1010
Journal Article
FRONTIERS IN GENETICS, ISSN 1664-8021, 07/2019, Volume 10, pp. 611 - 611
The clinical utility of computational phenotyping for both genetic and rare diseases is increasingly appreciated; however, its true potential is yet to be... 
rare disease | MATCHMAKER EXCHANGE | RARE | RECOGNITION | GENOTYPE | FACIAL DYSMORPHOLOGY | PHENOTYPE | phenotyping | INDIVIDUALS | THERAPY | patient information | DE-NOVO MUTATIONS | GENOMES | GENETICS & HEREDITY | data protection | data sharing | Faces | Machine learning
Journal Article
Human Mutation, ISSN 1059-7794, 01/2018, Volume 39, Issue 1, pp. 103 - 113
Journal Article
Modern Pathology, ISSN 0893-3952, 07/2018, Volume 31, Issue 7, pp. 1116 - 1130
Journal Article