Genotype-phenotype correlation in Bardet-Biedl Syndrome

Genotype-phenotype correlation in Bardet-Biedl Syndrome

Manylion Llyfryddiaeth
Prif Awduron:	Forsythe, E, Sparks, K, Huda, M, Hazlehurst, J, Muajhid, S, Carroll, P, McGowan, B, Tomlinson, J, Mohammed, S, Beales, P
Fformat:	Conference item
Cyhoeddwyd:	2012

Eitemau Tebyg

The endocrine and metabolic characteristics of a large Bardet-Biedl syndrome clinic population
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Review of the phenotypes and genotypes of Bardet-Biedl syndrome from China
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A Genotype–Phenotype Analysis of the Bardet–Biedl Syndrome in Puerto Rico
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Molecular and phenotypic characteristics of Bardet-Biedl syndrome in Chinese patients
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Retinal Findings in Bardet-Biedl Syndrome
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Bardet–Biedl syndrome: a case series
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Atypical phenotype of a patient with Bardet–Biedl syndrome type 4
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Correction: Loss of Bardet-Biedl syndrome proteins causes synaptic aberrations in principal neurons.
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Sindroma Laurence-Moon-Bardet-Biedl
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Bardet-Biedl Syndrome: A Rare Entity
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Bangladeshi Case Series of Bardet–Biedl Syndrome
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Report of four cases of Bardet-Biedl syndrome
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Burden of hyperphagia and obesity in Bardet–Biedl syndrome: a multicountry survey
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Atypical association of Duane retraction syndrome and Bardet Biedl syndrome
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Early diagnosis of Bardet-Biedl syndrome associated with obesity
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Bardet-Biedl Syndrome: Current Perspectives and Clinical Outlook
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Bardet–Biedl syndrome with nonalcoholic steatohepatitis, hypertension, and hypothyroidism
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Rare cause of pediatric obesity: Bardet - Biedl Syndrome
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SINDROMUL BARDET-BIEDL – PREZENTARE DE CAZ
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A Case Report on the Bardet Biedl Syndrome with Hypokalaemic Paralysis
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Caregiver burden in Bardet-Biedl syndrome: findings from the CARE-BBS study
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Computational and Structural Analysis to Assess the Pathogenicity of Bardet-Biedl Syndrome Related Missense Variants Identified in Bardet-Biedl Syndrome 10 Gene (BBS10)
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Anesthetic management of two cases of Bardet-Biedl syndrome for renal transplantation
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Robot-assisted kidney transplant in a child with Bardet–Biedl Syndrome
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Ultrasound evaluation of kidney and liver involvement in Bardet–Biedl syndrome
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Prenatal diagnosis of Bardet Biedl Syndrome: A case report
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A rare case of obesity. Can it be Bardet‐Biedl Syndrome?
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Bardet-Biedl syndrome: The longer we miss, the worse is the outcome
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Bardet–Biedl syndrome: Genetics, molecular pathophysiology, and disease management
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Laurence-Moon-Bardet-Biedl Syndrome: A case report
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Electrophysiological findings of Bardet–Biedl syndrome: a case series
gan: Marwa A Tabl
Cyhoeddwyd: (2020-01-01)

Visual acuity and retinal function in patients with Bardet-Biedl syndrome
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