about
Importance of Genetic Studies in Consanguineous Populations for the Characterization of Novel Human Gene FunctionsGNB5 mutation causes a novel neuropsychiatric disorder featuring attention deficit hyperactivity disorder, severely impaired language development and normal cognitionThe landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.GOLGA2, encoding a master regulator of golgi apparatus, is mutated in a patient with a neuromuscular disorder.Glutaric aciduria type 1 as a cause of dystonic cerebral palsyMutation of the mitochondrial carrier SLC25A42 causes a novel form of mitochondrial myopathy in humansA first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies.Evaluation of Quality Assessment Protocols for High Throughput Genome Resequencing Data.Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden.Characterizing the morbid genome of ciliopathies.Differentiation of beta thalassemia trait from iron deficiency anemia by hematological indices.Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families.Revisiting the morbid genome of Mendelian disorders.Identification of a novel MKS locus defined by TMEM107 mutation.Genetic profiling of children with advanced cholestatic liver disease.Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies.Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation.Increasing the sensitivity of clinical exome sequencing through improved filtration strategy.ADAT3-related intellectual disability: Further delineation of the phenotype.Crisponi/CISS1 syndrome: A case series.Validation of Ion TorrentTM Inherited Disease Panel with the PGMTM Sequencing Platform for Rapid and Comprehensive Mutation Detection.
P2860
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P2860
description
2014 nî lūn-bûn
@nan
2014 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年学术文章
@wuu
2014年学术文章
@zh-cn
2014年学术文章
@zh-hans
2014年学术文章
@zh-my
2014年学术文章
@zh-sg
2014年學術文章
@yue
name
Genetics and genomic medicine in Saudi Arabia
@ast
Genetics and genomic medicine in Saudi Arabia
@en
Genetics and genomic medicine in Saudi Arabia
@nl
type
label
Genetics and genomic medicine in Saudi Arabia
@ast
Genetics and genomic medicine in Saudi Arabia
@en
Genetics and genomic medicine in Saudi Arabia
@nl
prefLabel
Genetics and genomic medicine in Saudi Arabia
@ast
Genetics and genomic medicine in Saudi Arabia
@en
Genetics and genomic medicine in Saudi Arabia
@nl
P2860
P3181
P356
P1476
Genetics and genomic medicine in Saudi Arabia
@en
P2860
P304
P3181
P356
10.1002/MGG3.97
P407
P577
2014-09-01T00:00:00Z