Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1
about
The hydrolethalus syndrome protein HYLS-1 links core centriole structure to cilia formationThe many faces of KIF7Cortical thinning and hydrocephalus in mice lacking the immunoglobulin superfamily member CDOKIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.The hydrolethalus syndrome protein HYLS-1 regulates formation of the ciliary gateUnraveling the disease pathogenesis behind lethal hydrolethalus syndrome revealed multiple changes in molecular and cellular level.Primary cilia in neurodevelopmental disorders.Genes and molecular pathways underpinning ciliopathies.Recurrence risks for different pregnancy outcomes and meiotic segregation analysis of spermatozoa in carriers of t(1;11)(p36.22;q12.2).A novel HYLS1 homozygous mutation in living siblings with Joubert syndrome.
P2860
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P2860
Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1
description
2005 nî lūn-bûn
@nan
2005 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2005年の論文
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2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1
@ast
Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1
@en
Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1
@en-gb
Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1
@nl
type
label
Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1
@ast
Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1
@en
Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1
@en-gb
Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1
@nl
prefLabel
Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1
@ast
Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1
@en
Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1
@en-gb
Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1
@nl
P2093
P3181
P356
P1476
Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1
@en
P2093
George R Jackson
Heli Honkala
Ilona Visapää
Jouni Vesa
Marjo Kestilä
Riitta Salonen
Saara Finnilä
Tzu-Kang Sang
P304
P3181
P356
10.1093/HMG/DDI157
P407
P577
2005-06-01T00:00:00Z