about
Genetics and genomic medicine in Saudi ArabiaTMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone.Meckel-Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in EuropeOpen Sesame: How Transition Fibers and the Transition Zone Control Ciliary Composition.The application of next-generation sequencing in the autozygosity mapping of human recessive diseases.Meckel-Gruber syndrome and the role of primary cilia in kidney, skeleton, and central nervous system developmentWhole exome sequencing: a state-of-the-art approach for defining (and exploring!) genetic landscapes in pediatric nephrology.Photoreceptor Cilia and Retinal Ciliopathies.Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.Sonic Hedgehog Signaling in Limb DevelopmentCiliary genes TBC1D32/C6orf170 and SCLT1 are mutated in patients with OFD type IX.TMEM231 Gene Conversion Associated with Joubert and Meckel-Gruber Syndromes in the Same Family.Identification of a novel MKS locus defined by TMEM107 mutation.Meckel-Gruber Syndrome: An Update on Diagnosis, Clinical Management, and Research Advances.A nonsense mutation in CEP55 defines a new locus for a Meckel-like syndrome, an autosomal recessive lethal fetal ciliopathy.
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P2860
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
Mutations in TMEM231 cause Meckel-Gruber syndrome.
@ast
Mutations in TMEM231 cause Meckel-Gruber syndrome.
@en
type
label
Mutations in TMEM231 cause Meckel-Gruber syndrome.
@ast
Mutations in TMEM231 cause Meckel-Gruber syndrome.
@en
prefLabel
Mutations in TMEM231 cause Meckel-Gruber syndrome.
@ast
Mutations in TMEM231 cause Meckel-Gruber syndrome.
@en
P2093
P2860
P1476
Mutations in TMEM231 cause Meckel-Gruber syndrome.
@en
P2093
Elham Al Mardawi
Muneera J Alshammari
Ranad Shaheen
Shinu Ansari
P2860
P304
P356
10.1136/JMEDGENET-2012-101431
P577
2013-01-24T00:00:00Z