Co-occurrence of distinct ciliopathy diseases in single families suggests genetic modifiers

Co-occurrence of distinct ciliopathy diseases in single families suggests genetic modifiers

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http://www.wikidata.org/entity/Q57206951
Dido mutations trigger perinatal death and generate brain abnormalities and behavioral alterations in surviving adult mice.Duration of Diabetes Predicts Aortic Pulse Wave Velocity and Vascular Events in Alström Syndrome.The ciliopathies: a transitional model into systems biology of human genetic disease.Developmental disorders of the midbrain and hindbrain.Primary ciliary dyskinesia: recent advances in epidemiology, diagnosis, management and relationship with the expanding spectrum of ciliopathy.Primary cilia in neurodevelopmental disorders.Interpreting the clinical significance of combined variants in multiple recessive disease genes: systematic investigation of Joubert syndrome yields little support for oligogenicity.Motile and non-motile cilia in human pathology: from function to phenotypes.Photoreceptor Cilia and Retinal Ciliopathies.Characterizing the morbid genome of ciliopathies.Relative stability of human centrins and its relationship to calcium binding.TMEM231 Gene Conversion Associated with Joubert and Meckel-Gruber Syndromes in the Same Family.Prospective Evaluation of Kidney Disease in Joubert Syndrome.Genotypic and phenotypic characterization of the Sdccag8Tn(sb-Tyr)2161B.CA1C2Ove mouse model.Nephronophthisis and retinal degeneration in tmem218-/- mice: a novel mouse model for Senior-Løken syndrome?
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Co-occurrence of distinct ciliopathy diseases in single families suggests genetic modifiers

Item
http://www.wikidata.org/entity/Q57206951
description
im Dezember 2011 veröffentlichter wissenschaftlicher Artikel
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wetenschappelijk artikel
@nl
наукова стаття, опублікована в грудні 2011
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name
Co-occurrence of distinct cili ...... ies suggests genetic modifiers
@en
Co-occurrence of distinct cili ...... ies suggests genetic modifiers
@nl
type
label
Co-occurrence of distinct cili ...... ies suggests genetic modifiers
@en
Co-occurrence of distinct cili ...... ies suggests genetic modifiers
@nl
prefLabel
Co-occurrence of distinct cili ...... ies suggests genetic modifiers
@en
Co-occurrence of distinct cili ...... ies suggests genetic modifiers
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P698
P932
P356
P1433
P1476
Co-occurrence of distinct cili ...... ies suggests genetic modifiers
@en
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P698
P932