Lessons learned from additional research analyses of unsolved clinical exome cases.

Lessons learned from additional research analyses of unsolved clinical exome cases.

Item
http://www.wikidata.org/entity/Q37715741
Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research.Identification of novel candidate disease genes from de novo exonic copy number variants.De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.MAPPIN: a method for annotating, predicting pathogenicity and mode of inheritance for nonsynonymous variants.Genomic medicine for kidney disease.WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome.PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders.Mutations in PI3K110δ cause impaired NK cell function partially rescued by rapamycin treatment.The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants.The role of the clinician in the multi-omics era: are you ready?Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders.Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.Systematic reanalysis of genomic data improves quality of variant interpretation.Novel Mutations in a Chinese Pedigree of Limb Girdle Muscular DystrophyPhenotypic expansion in - a common cause of intellectual disability in females
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Lessons learned from additional research analyses of unsolved clinical exome cases.

Item
http://www.wikidata.org/entity/Q37715741
description
article científic
@ca
article scientifique
@fr
articolo scientifico
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artigo científico
@pt
bilimsel makale
@tr
scientific article published on 21 March 2017
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Lessons learned from additional research analyses of unsolved clinical exome cases.
@en
Lessons learned from additional research analyses of unsolved clinical exome cases.
@nl
type
label
Lessons learned from additional research analyses of unsolved clinical exome cases.
@en
Lessons learned from additional research analyses of unsolved clinical exome cases.
@nl
prefLabel
Lessons learned from additional research analyses of unsolved clinical exome cases.
@en
Lessons learned from additional research analyses of unsolved clinical exome cases.
@nl
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P407
P433
P478
P50
P577
P6179
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P932
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P1433
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Lessons learned from additional research analyses of unsolved clinical exome cases.
@en
P2093
P2860
P2888
P304
P31
P356
P407
P433
P478
P50
P577
P6179
P698
P932