Heterozygous Mutations in the ADCK3 Gene in Siblings with Cerebellar Atrophy and Extreme Phenotypic Variability.
about
Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency.Whole genome/exome sequencing in mood and psychotic disorders.The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview.Molecular diagnosis of coenzyme Q10 deficiency.Biochemical Assessment of Coenzyme Q10 Deficiency.Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases.Compound Heterozygous Inheritance of Mutations in Coenzyme Q8A Results in Autosomal Recessive Cerebellar Ataxia and Coenzyme Q10 Deficiency in a Female Sib-Pair.Biochemistry of Mitochondrial Coenzyme Q Biosynthesis.ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic?
P2860
Q38236847-1E6DDCE0-9798-41EE-A0B7-00186216162DQ38260604-266F7FB6-92BD-493F-9E0B-DC23EB2BC18BQ38270108-44F3D9B9-5667-4BFA-B341-C5E15D88676BQ38542981-6D3481F5-66BB-4992-8A9B-E69756DE536DQ39168844-1829ED65-9E8D-4EF7-A7AA-A4E1BE32444CQ39797467-AB67060C-A8DC-43D0-BBC6-4C2370428442Q47380247-2BE7604E-DF76-4122-9E5D-C26F2DEE9E51Q47777099-1D9B6AF8-21C8-4B2C-AE86-6A1EB2015023Q48799556-E00281F7-62EE-46E2-9828-CC508D4B0717
P2860
Heterozygous Mutations in the ADCK3 Gene in Siblings with Cerebellar Atrophy and Extreme Phenotypic Variability.
description
2013 nî lūn-bûn
@nan
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
2013年论文
@zh
2013年论文
@zh-cn
name
Heterozygous Mutations in the ...... xtreme Phenotypic Variability.
@en
type
label
Heterozygous Mutations in the ...... xtreme Phenotypic Variability.
@en
prefLabel
Heterozygous Mutations in the ...... xtreme Phenotypic Variability.
@en
P2093
P2860
P356
P1476
Heterozygous Mutations in the ...... xtreme Phenotypic Variability.
@en
P2093
Ayelet Zerem
Keren Yosovich
Lubov Blumkin
P2860
P304
P356
10.1007/8904_2013_251
P577
2013-09-19T00:00:00Z