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Bardet-Biedl SyndromeSpecialized Cilia in Mammalian Sensory SystemsBardet-Biedl syndrome: Genetics, molecular pathophysiology, and disease managementReview and update on the molecular basis of Leber congenital amaurosisAlternative Splicing Shapes the Phenotype of a Mutation in BBS8 To Cause Nonsyndromic Retinitis PigmentosaTwo brothers with bardet-biedl syndrome presenting with chronic renal failure.Whole Exome Sequencing Identifies a Novel and a Recurrent Mutation in BBS2 Gene in a Family with Bardet-Biedl SyndromeCharacterization of Courtesy Stigma Perceived by Parents of Overweight Children with Bardet-Biedl Syndrome.Homozygosity mapping identified a novel protein truncating mutation (p.Ser100Leufs*24) of the BBS9 gene in a consanguineous Pakistani family with Bardet Biedl syndromePrimary cilia in energy balance signaling and metabolic disorder.Unmasking the ciliopathies: craniofacial defects and the primary cilium.Recent Progress in the Understanding of Obesity: Contributions of Genome-Wide Association Studies.Whole exome sequencing as a diagnostic tool for patients with ciliopathy-like phenotypesGenetics of human Bardet-Biedl syndrome, an updates.Anesthetic considerations for patients with Bardet-Biedl syndrome: a case series and review of the literature.Gene Therapeutic Reversal of Peripheral Olfactory Impairment in Bardet-Biedl Syndrome.Rare Genetic Forms of Obesity: Clinical Approach and Current Treatments in 2016.A novel C8orf37 splice mutation and genotype-phenotype correlation for cone-rod dystrophy.Molecular genetic analysis of 30 families with Joubert syndrome.Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families.Understanding mutational effects in digenic diseasesUtility and limitations of animal models for the functional validation of human sequence variants.Cytogenomic identification and long-read single molecule real-time (SMRT) sequencing of a Bardet-Biedl Syndrome 9 (BBS9) deletion.Identification of A Novel Compound Heterozygous Mutation in BBS12 in An Iranian Family with Bardet-Biedl Syndrome Using Targeted Next Generation Sequencing.Oncoprotein CIP2A promotes the disassembly of primary cilia and inhibits glycolytic metabolism.[Monogenic and syndromic symptoms of morbid obesity. Rare but important].Screening for mutation hotspots in Bardet-Biedl syndrome patients from India.LHX2 Mediates the FGF-to-SHH Regulatory Loop during Limb Development.
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description
2014 nî lūn-bûn
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2014 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի փետրվարին հրատարակված գիտական հոդված
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2014年の論文
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2014年学术文章
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2014年学术文章
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2014年学术文章
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2014年学术文章
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2014年学术文章
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2014年學術文章
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name
Update on the genetics of bardet-biedl syndrome
@ast
Update on the genetics of bardet-biedl syndrome
@en
Update on the genetics of bardet-biedl syndrome
@nl
type
label
Update on the genetics of bardet-biedl syndrome
@ast
Update on the genetics of bardet-biedl syndrome
@en
Update on the genetics of bardet-biedl syndrome
@nl
prefLabel
Update on the genetics of bardet-biedl syndrome
@ast
Update on the genetics of bardet-biedl syndrome
@en
Update on the genetics of bardet-biedl syndrome
@nl
P2093
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P1476
Update on the genetics of bardet-biedl syndrome
@en
P2093
H. Chaabouni-Bouhamed
I. Ouertani
O. M'hamdi
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P356
10.1159/000357054
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P577
2014-02-01T00:00:00Z