sameAs
P1050
P2293
CiliopathiesCiliopathies: an expanding disease spectrum.Educational paper: ciliopathies.The cell biological basis of ciliary disease.In vitro culturing of ciliary respiratory cells--a model for studies of genetic diseases.Survey of the Ciliary Motility Machinery of Sperm and Ciliated Mechanosensory Neurons Reveals Unexpected Cell-Type Specific Variations: A Model for Motile CiliopathiesIdentification and Characterization of Known Biallelic Mutations in the () Gene in a Novel Family With Bardet-Biedl Syndrome661W Photoreceptor Cell Line as a Cell Model for Studying Retinal CiliopathiesIdentification of Important Effector Proteins in the FOXJ1 Transcriptional Network Associated With Ciliogenesis and Ciliary FunctionThe Frog as a Model to Study Joubert Syndrome: The Case of a Human Patient With Compound Heterozygous Variants inThe Ciliopathy Gene Controls Mouse Forebrain Patterning via Region-Specific Modulation of Hedgehog/Gli SignalingNot only Alagille syndrome. Syndromic paucity of interlobular bile ducts secondary to HNF1β deficiency: a case report and literature reviewmutation may epistatically ameliorate nephronophthisis progression in patients with deletionInactivation of Apoptosis Antagonizing Transcription Factor in tubular epithelial cells induces accumulation of DNA damage and nephronophthisisClinical Study of a Single Ciliopathy: Alström Syndrome
P921
description
Erkrankung der Wimpern
@de
enfermedad genética
@es
genetic disease associated wit ...... formation or function of cilia
@en
name
Ciliopatie
@pl
Ziliopathie
@de
ciliopathie
@fr
ciliopathie
@nl
ciliopathy
@en
ciliopati
@nn
ciliopatia
@ca
ciliopatía
@es
Цилиопатии
@ru
اعتلال الأهداب الخلوية
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type
label
Ciliopatie
@pl
Ziliopathie
@de
ciliopathie
@fr
ciliopathie
@nl
ciliopathy
@en
ciliopati
@nn
ciliopatia
@ca
ciliopatía
@es
Цилиопатии
@ru
اعتلال الأهداب الخلوية
@ar
altLabel
Ciliopathie
@de
ciliopathies
@en
ciliopatia
@es
prefLabel
Ciliopatie
@pl
Ziliopathie
@de
ciliopathie
@fr
ciliopathie
@nl
ciliopathy
@en
ciliopati
@nn
ciliopatia
@ca
ciliopatía
@es
Цилиопатии
@ru
اعتلال الأهداب الخلوية
@ar
P486
P6366
P646
P1550
P1995
P373
Ciliopathies
P486
D000072661
P492
P5270
MONDO:0005308
P6366
2780561973
P646
/m/04crk2s
P672
C16.131.077.245
C16.320.184
P699
DOID:0060340