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Clinical and Counseling Experiences of Early Adopters of Whole Exome Sequencing
Online Contents | 2016| -
Concurrent chondrodysplasia punctata type 2 (conradi–hunermann–happle syndrome) and ichthyosis vulgaris in teenaged twin girls
British Library Online Contents | 2017| -
Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders
British Library Online Contents | 2018| -
Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3, encoding P-cadherin
National licenceNature Publishing Group | 2001| -
Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis
National licenceNature Publishing Group | 1998| -
Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis
National licenceNature Publishing Group | 2004|
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