Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.
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Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications.Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes.SALM/Lrfn Family Synaptic Adhesion Molecules.Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder
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Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 11 August 2016
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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Candidate-gene criteria for cl ...... nts with undiagnosed diseases.
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Candidate-gene criteria for cl ...... nts with undiagnosed diseases.
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type
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Candidate-gene criteria for cl ...... nts with undiagnosed diseases.
@en
Candidate-gene criteria for cl ...... nts with undiagnosed diseases.
@nl
prefLabel
Candidate-gene criteria for cl ...... nts with undiagnosed diseases.
@en
Candidate-gene criteria for cl ...... nts with undiagnosed diseases.
@nl
P2093
P2860
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Candidate-gene criteria for cl ...... ents with undiagnosed diseases
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P2093
Hsiao-Mei Lu
Samin A Sajan
Wendy A Alcaraz
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P2888
P304
P356
10.1038/GIM.2016.95
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P50
P577
2016-08-11T00:00:00Z