RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.
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Joubert Syndrome and related disordersClinical and molecular features of Joubert syndrome and related disorders.The ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome-related disorders.Ciliopathies: the trafficking connection.Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI.B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysisMeckelin is necessary for photoreceptor intraciliary transport and outer segment morphogenesisFTO Biology and Obesity: Why Do a Billion of Us Weigh 3 kg More?RPGR-containing protein complexes in syndromic and non-syndromic retinal degeneration due to ciliary dysfunction.Photoreceptor sensory cilia and ciliopathies: focus on CEP290, RPGR and their interacting proteins.Ciliary signaling cascades in photoreceptorsNosological delineation of congenital ocular motor apraxia type Cogan: an observational study.Joubert syndrome: congenital cerebellar ataxia with the molar toothCholangiociliopathies: genetics, molecular mechanisms and potential therapiesA developmental and genetic classification for midbrain-hindbrain malformations.Evaluation of risk loci for schizophrenia derived from genome-wide association studies in a German population.Molecular genetic analysis of 30 families with Joubert syndrome.Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies.A de novo 0.63 Mb 6q25.1 deletion associated with growth failure, congenital heart defect, underdeveloped cerebellar vermis, abnormal cutaneous elasticity and joint laxity.
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RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.
description
article científic
@ca
article scientifique
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articolo scientifico
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artigo científico
@pt
bilimsel makale
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scientific article published on 28 June 2008
@en
vedecký článok
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vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
RPGRIP1L mutations are mainly ...... rt syndrome-related disorders.
@en
RPGRIP1L mutations are mainly ...... rt syndrome-related disorders.
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type
label
RPGRIP1L mutations are mainly ...... rt syndrome-related disorders.
@en
RPGRIP1L mutations are mainly ...... rt syndrome-related disorders.
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prefLabel
RPGRIP1L mutations are mainly ...... rt syndrome-related disorders.
@en
RPGRIP1L mutations are mainly ...... rt syndrome-related disorders.
@nl
P2093
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P50
P1433
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RPGRIP1L mutations are mainly ...... ert syndrome-related disorders
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D Zablocka
E Boltshauser
F Brancati
G Montagna
J G Gleeson
J L Silhavy
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P304
P356
10.1111/J.1399-0004.2008.01047.X
P577
2008-06-28T00:00:00Z