Genotype-phenotype correlation in Bardet-Biedl Syndrome

Genotype-phenotype correlation in Bardet-Biedl Syndrome

Bibliografiske detaljer
Main Authors:	Forsythe, E, Sparks, K, Huda, M, Hazlehurst, J, Muajhid, S, Carroll, P, McGowan, B, Tomlinson, J, Mohammed, S, Beales, P
Format:	Conference item
Udgivet:	2012

Lignende værker

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Energy metabolism in Bardet-Biedl syndrome.
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Retinal Findings in 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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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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Udgivet: (2013-06-01)

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
af: Kalpana S Vora, et al.
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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
af: Ena Arora, MD, et al.
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Bardet-Biedl syndrome: The longer we miss, the worse is the outcome
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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
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Udgivet: (2020-01-01)

Visual acuity and retinal function in patients with Bardet-Biedl syndrome
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Udgivet: (2012-01-01)