Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin.
about
MYBPC1, an Emerging Myopathic Gene: What We Know and What We Need to LearnArthrogryposis as a Syndrome: Gene Ontology AnalysisTruncating CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium syndromeArthrogryposis multiplex congenita: classification, diagnosis, perioperative care, and anesthesia.Myofilaments: Movers and Rulers of the Sarcomere.Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome.A Novel Variant in the Endothelin-Converting Enzyme-Like 1 (ECEL1) Gene in an Emirati Child.Distinct functional consequences of ECEL1/DINE missense mutations in the pathogenesis of congenital contracture disorders.LMOD3-Associated Nemaline Myopathy: Prenatal Ultrasonographic, Pathologic, and Molecular Findings.Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN).Skeletal myosin binding protein-C isoforms regulate thin filament activity in a Ca2+-dependent manner.Vps3 and Vps8 control integrin trafficking from early to recycling endosomes and regulate integrin-dependent functions.
P2860
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P2860
Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin.
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年論文
@yue
2016年論文
@zh-hant
2016年論文
@zh-hk
2016年論文
@zh-mo
2016年論文
@zh-tw
2016年论文
@wuu
2016年论文
@zh
2016年论文
@zh-cn
name
Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin.
@ast
Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin.
@en
type
label
Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin.
@ast
Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin.
@en
prefLabel
Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin.
@ast
Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin.
@en
P2093
P2860
P356
P1476
Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin.
@en
P2093
Ali Karaman
Alper Gezdirici
Ayman W El-Hattab
Beyhan Tuysuz
Davut Pehlivan
Deniz Torun
Donna M Muzny
Elif Ozdamar Yilmaz
Ender Karaca
Gulsen Akay Tayfun
P2860
P304
P356
10.1172/JCI84457
P407
P577
2016-01-11T00:00:00Z