Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia.
about
Identifying Niemann-Pick type C in early-onset ataxia: two quick clinical screening toolsDegenerative Ataxias: challenges in clinical research.Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases.SNP Analysis and Whole Exome Sequencing: Their Application in the Analysis of a Consanguineous Pedigree Segregating Ataxia.A novel frameshift mutation of SYNE1 in a Japanese family with autosomal recessive cerebellar ataxia type 8.Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype-phenotype correlation.SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study.
P2860
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P2860
Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia.
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
Molecular and clinical study o ...... th autosomal recessive ataxia.
@ast
Molecular and clinical study o ...... th autosomal recessive ataxia.
@en
type
label
Molecular and clinical study o ...... th autosomal recessive ataxia.
@ast
Molecular and clinical study o ...... th autosomal recessive ataxia.
@en
prefLabel
Molecular and clinical study o ...... th autosomal recessive ataxia.
@ast
Molecular and clinical study o ...... th autosomal recessive ataxia.
@en
P2093
P2860
P1433
P1476
Molecular and clinical study o ...... th autosomal recessive ataxia.
@en
P2093
Farida Ferrat
Lamia Ali Pacha
Malika Chaouch
Meriem Tazir
Michel Koenig
Nathalie Drouot
Samira Makri
Tarik Hamadouche
Traki Benhassine
Wahiba Hamza
P2860
P2888
P356
10.1186/S12881-015-0180-3
P50
P577
2015-06-12T00:00:00Z
P5875
P6179
1031607676