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Bardet-Biedl SyndromeGenetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum.DISCOVERY OF FUNCTIONAL AND DISEASE PATHWAYS BY COMMUNITY DETECTION IN PROTEIN-PROTEIN INTERACTION NETWORKS.Functional analysis by minigene assay of putative splicing variants found in Bardet-Biedl syndrome patients.Motile and non-motile cilia in human pathology: from function to phenotypes.Genetic Factors of Diabetes.Mechanisms for nonmitotic activation of Aurora-A at cilia.Primary Cilia in Cystic Kidney Disease.A novel BBS10 mutation identified in a patient with Bardet-Biedl syndrome with a violent emotional outbreak.Disease model discovery from 3,328 gene knockouts by The International Mouse Phenotyping Consortium.Molecular genetic analysis of 30 families with Joubert syndrome.Bardet-Biedl Syndrome as a Chaperonopathy: Dissecting the Major Role of Chaperonin-Like BBS Proteins (BBS6-BBS10-BBS12).Genetics of body fat mass and related traits in a pig population selected for leannessFBN3 gene involved in pathogenesis of a Chinese family with Bardet-Biedl syndrome.Novel sequence variants in the MKKS gene cause Bardet-Biedl syndrome with intra- and inter-familial variable phenotypes.A recombinant BBSome core complex and how it interacts with ciliary cargo.Cytogenomic identification and long-read single molecule real-time (SMRT) sequencing of a Bardet-Biedl Syndrome 9 (BBS9) deletion.Diagnosis, treatment and prevention of pediatric obesity: consensus position statement of the Italian Society for Pediatric Endocrinology and Diabetology and the Italian Society of Pediatrics
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
Genetics of human Bardet-Biedl syndrome, an updates.
@en
type
label
Genetics of human Bardet-Biedl syndrome, an updates.
@en
prefLabel
Genetics of human Bardet-Biedl syndrome, an updates.
@en
P2093
P2860
P356
P1433
P1476
Genetics of human Bardet-Biedl syndrome, an updates.
@en
P2093
P2860
P356
10.1111/CGE.12737
P577
2016-01-14T00:00:00Z