about
Interpreting the clinical significance of combined variants in multiple recessive disease genes: systematic investigation of Joubert syndrome yields little support for oligogenicity.Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.Wide-spread cone-shaped epiphyses in two Saudi siblings with Ellis-van Creveld syndrome.Human disease genomics: from variants to biology.A novel mechanism for variable phenotypic expressivity in Mendelian diseases uncovered by an AU-rich element (ARE)-creating mutation.Molecular autopsy in maternal-fetal medicine.Meckel-Gruber Syndrome: An Update on Diagnosis, Clinical Management, and Research Advances.A novel homozygous ARL13B variant in patients with Joubert syndrome impairs its guanine nucleotide-exchange factor activity.The genetic landscape of familial congenital hydrocephalus.A CRISPR-based screen for Hedgehog signaling provides insights into ciliary function and ciliopathies.Signaling through the Primary Cilium.Expanding the allelic disorders linked to TCTN1 to include Varadi syndrome (Orofaciodigital syndrome type VI).Ganetespib limits ciliation and cystogenesis in autosomal-dominant polycystic kidney disease (ADPKD).Elsahy-Waters syndrome is caused by biallelic mutations in CDH11.OligoPVP: Phenotype-driven analysis of individual genomic information to prioritize oligogenic disease variantsBalancing selection on a recessive lethal deletion with pleiotropic effects on two neighboring genes in the porcine genome
P2860
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P2860
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-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
2016年學術文章
@zh-hant
name
Characterizing the morbid genome of ciliopathies.
@en
Characterizing the morbid genome of ciliopathies.
@en-gb
type
label
Characterizing the morbid genome of ciliopathies.
@en
Characterizing the morbid genome of ciliopathies.
@en-gb
prefLabel
Characterizing the morbid genome of ciliopathies.
@en
Characterizing the morbid genome of ciliopathies.
@en-gb
P2093
P2860
P50
P6366
P1154
2-s2.0-84999693666
P1433
P1476
Characterizing the morbid genome of ciliopathies
@en
P2093
Amal Al Hashem
Anas M Alazami
Anason Halees
Andre Megarbane
Brahim Tabarki
Ciliopathy WorkingGroup
Clare V Logan
Colin A Johnson
Dorota Monies
Eissa Faqeih
P2860
P2888
P356
10.1186/S13059-016-1099-5
P5530
P577
2016-11-28T00:00:00Z
P6179
1051160509
P6366
2558515404