Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort
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Bardet-Biedl SyndromeUpdate on the genetics of bardet-biedl syndromeThe ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome-related disorders.Genetic predictors of cardiovascular morbidity in Bardet-Biedl syndrome.Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent PolydactylyTwo 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 SyndromeRegulation of Insulin Receptor Trafficking by Bardet Biedl Syndrome Proteins.Comparing the Bbs10 complete knockout phenotype with a specific renal epithelial knockout one highlights the link between renal defects and systemic inactivation in miceRetinal Diseases Caused by Mutations in Genes Not Specifically Associated with the Clinical DiagnosisLack of Casein Kinase 1 Delta Promotes Genomic Instability - The Accumulation of DNA Damage and Down-Regulation of Checkpoint Kinase 1Bardet-biedl syndrome: a rare cause of chronic kidney disease.Depletion of BBS Protein LZTFL1 Affects Growth and Causes Retinal Degeneration in Mice.Inherited secondary nephrogenic diabetes insipidus: concentrating on humans.Four pediatric patients with autosomal recessive polycystic kidney disease developed new-onset diabetes after renal transplantation.An approach to cystic kidney diseases: the clinician's view.Systemic diseases associated with retinal dystrophies.Bardet-Biedl syndrome: Is it only cilia dysfunction?Genetics of human Bardet-Biedl syndrome, an updates.Oral and Craniofacial Anomalies of Bardet-Biedl Syndrome: Dental Management in the Context of a Rare Disease.A novel BBS10 mutation identified in a patient with Bardet-Biedl syndrome with a violent emotional outbreak.Risk Factors for Severe Renal Disease in Bardet-Biedl Syndrome.Bardet-Biedl Syndrome as a Chaperonopathy: Dissecting the Major Role of Chaperonin-Like BBS Proteins (BBS6-BBS10-BBS12).Bardet-Biedl syndrome presenting with steroid sensitive nephrotic syndrome.Renal phenotype in Bardet-Biedl syndrome: a combined defect of urinary concentration and dilution is associated with defective urinary AQP2 and UMOD excretion.A novel test for recessive contributions to complex diseases implicates Bardet-Biedl syndrome gene BBS10 in idiopathic type 2 diabetes and obesityBardet-Biedl syndrome: multiple fingers with multiple defects!Rare non-coding variants are associated with plasma lipid traits in a founder population.Keeping an Eye on Bardet-Biedl Syndrome: A Comprehensive Review of the Role of Bardet-Biedl Syndrome Genes in the Eye.Managing Bardet–Biedl Syndrome—Now and in the Future.Screening for mutation hotspots in Bardet-Biedl syndrome patients from India.
P2860
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P2860
Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort
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2010 nî lūn-bûn
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2010 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2010年の論文
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2010年論文
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2010年論文
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2010年論文
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2010年論文
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2010年論文
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2010年论文
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Bardet-Biedl syndrome: a study ...... phenotypes in a French cohort
@ast
Bardet-Biedl syndrome: a study ...... phenotypes in a French cohort
@en
Bardet-Biedl syndrome: a study ...... phenotypes in a French cohort
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label
Bardet-Biedl syndrome: a study ...... phenotypes in a French cohort
@ast
Bardet-Biedl syndrome: a study ...... phenotypes in a French cohort
@en
Bardet-Biedl syndrome: a study ...... phenotypes in a French cohort
@nl
prefLabel
Bardet-Biedl syndrome: a study ...... phenotypes in a French cohort
@ast
Bardet-Biedl syndrome: a study ...... phenotypes in a French cohort
@en
Bardet-Biedl syndrome: a study ...... phenotypes in a French cohort
@nl
P2093
P2860
P356
P1476
Bardet-Biedl syndrome: a study ...... phenotypes in a French cohort
@en
P2093
Christian Brandt
Christian P Hamel
Corinne Stoetzel
Hélène Dollfus
Muriel Holder
Myriam Durand
Olivier Imhoff
Pierre Sarda
Sabine Sigaudy
Vincent Marion
P2860
P356
10.2215/CJN.03320410
P50
P577
2010-09-28T00:00:00Z