Whole exome sequencing in a patient with uniparental disomy of chromosome 2 and a complex phenotype.
about
A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disordersWhole exome sequencing to identify genetic causes of short statureUse of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal DisordersPrenatal diagnosis of complete maternal uniparental isodisomy of chromosome 4 in a fetus without congenital abnormality or inherited disease-associated variations.A novel deletion of IGF1 in a patient with idiopathic short stature provides insight Into IGF1 haploinsufficiency.Whole exome sequencing in congenital pain insensitivity identifies a novel causative intronic NTRK1-mutation due to uniparental disomy.Obesity and developmental delay in a patient with uniparental disomy of chromosome 2.The missense Thr211Pro mutation in the factor X activation peptide of a bleeding patient causes molecular defect in the clotting cascade.Maternal uniparental isodisomy of chromosome 6 unmasks a novel variant in in a patient with early onset retinal dystrophy
P2860
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P2860
Whole exome sequencing in a patient with uniparental disomy of chromosome 2 and a complex phenotype.
description
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 20 December 2012
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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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name
Whole exome sequencing in a pa ...... ome 2 and a complex phenotype.
@en
Whole exome sequencing in a pa ...... ome 2 and a complex phenotype.
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type
label
Whole exome sequencing in a pa ...... ome 2 and a complex phenotype.
@en
Whole exome sequencing in a pa ...... ome 2 and a complex phenotype.
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prefLabel
Whole exome sequencing in a pa ...... ome 2 and a complex phenotype.
@en
Whole exome sequencing in a pa ...... ome 2 and a complex phenotype.
@nl
P2093
P2860
P356
P1433
P1476
Whole exome sequencing in a pa ...... ome 2 and a complex phenotype.
@en
P2093
H Carmichael
J N Hirschhorn
T T Nguyen
P2860
P304
P356
10.1111/CGE.12064
P577
2012-12-20T00:00:00Z