Clinical genetics and pathobiology of ciliary chondrodysplasias.

Clinical genetics and pathobiology of ciliary chondrodysplasias.

Item
http://www.wikidata.org/entity/Q38288347
Spag17 deficiency results in skeletal malformations and bone abnormalitiesGenetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal OsteochondrodysplasiaThe role of the dynein light intermediate chain in retrograde IFT and flagellar function in Chlamydomonas.Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 functionPrimary ciliary dyskinesia and associated sensory ciliopathiesDestabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome.Ciliopathies: Genetics in Pediatric Medicine.Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome.Frederik Ruysch (1638-1731): Historical perspective and contemporary analysis of his teratological legacy.Targeted deletion of the AAA-ATPase Ruvbl1 in mice disrupts ciliary integrity and causes renal disease and hydrocephalus.RPGRIP1L helps to establish the ciliary gate for entry of proteins
P2860

Clinical genetics and pathobiology of ciliary chondrodysplasias.

Item
http://www.wikidata.org/entity/Q38288347
description
2014 nî lūn-bûn
@nan
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
2014年學術文章
@zh
2014年學術文章
@zh-hant
name
Clinical genetics and pathobiology of ciliary chondrodysplasias.
@en
type
label
Clinical genetics and pathobiology of ciliary chondrodysplasias.
@en
prefLabel
Clinical genetics and pathobiology of ciliary chondrodysplasias.
@en
P1433
P1476
P2093
P304
P31
P356
P433
P478
P50
P577
P698
P932
P356
P1433
P1476
Clinical genetics and pathobiology of ciliary chondrodysplasias
@en
P2093
P304
P31
P356
P433
P478
P50
P577
P698
P932