Hypomorphic MKS1 mutation in a Pakistani family with mild Joubert syndrome and atypical features: Expanding the phenotypic spectrum of MKS1-related ciliopathies.
about
Hypomorphic MKS1 mutation in a Pakistani family with mild Joubert syndrome and atypical features: Expanding the phenotypic spectrum of MKS1-related ciliopathies.
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年学术文章
@wuu
2016年学术文章
@zh
2016年学术文章
@zh-cn
2016年学术文章
@zh-hans
2016年学术文章
@zh-my
2016年学术文章
@zh-sg
2016年學術文章
@yue
2016年學術文章
@zh-hant
name
Hypomorphic MKS1 mutation in a ...... of MKS1-related ciliopathies.
@en
Hypomorphic MKS1 mutation in a ...... of MKS1-related ciliopathies.
@nl
type
label
Hypomorphic MKS1 mutation in a ...... of MKS1-related ciliopathies.
@en
Hypomorphic MKS1 mutation in a ...... of MKS1-related ciliopathies.
@nl
prefLabel
Hypomorphic MKS1 mutation in a ...... of MKS1-related ciliopathies.
@en
Hypomorphic MKS1 mutation in a ...... of MKS1-related ciliopathies.
@nl
P2093
P2860
P50
P356
P1476
Hypomorphic MKS1 mutation in a ...... m of MKS1-related ciliopathies
@en
P2093
Claudia A L Ruivenkamp
Gijs W E Santen
Irfanullah
Johan T den Dunnen
Mariëtte J V Hoffer
Marlies Laurense-Bik
Saadullah Khan
Wasim Ahmad
P2860
P304
P356
10.1002/AJMG.A.37934
P407
P577
2016-08-29T00:00:00Z