Genotype-phenotype correlation in Bardet-Biedl Syndrome

Genotype-phenotype correlation in Bardet-Biedl Syndrome

Bibliografski detalji
Glavni autori:	Forsythe, E, Sparks, K, Huda, M, Hazlehurst, J, Muajhid, S, Carroll, P, McGowan, B, Tomlinson, J, Mohammed, S, Beales, P
Format:	Conference item
Izdano:	2012

Slični predmeti

The endocrine and metabolic characteristics of a large Bardet-Biedl syndrome clinic population
od: Mujahid, S, i dr.
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Managing Bardet–Biedl Syndrome—Now and in the Future
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Energy metabolism in Bardet-Biedl syndrome.
od: Grace, C, i dr.
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Review of the phenotypes and genotypes of Bardet-Biedl syndrome from China
od: Zou Xin-Yi, i dr.
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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
od: Shiyang Gao, i dr.
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Síndroma de Bardet-Biedl.
od: Luís Siopa, i dr.
Izdano: (2002-02-01)

Retinal Findings in Bardet-Biedl Syndrome
od: Mukut Roy, i dr.
Izdano: (2014-11-01)

Laurence-Moon-Bardet-Biedl Syndrome
od: JK Sahu, i dr.
Izdano: (2008-10-01)

Bardet–Biedl Syndrome in an Ethiopian
od: Tsegaw A, i dr.
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od: Abeshi Andi, i dr.
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od: Omer Ali Mohamed Ahmed Elawad, i dr.
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Atypical phenotype of a patient with Bardet–Biedl syndrome type 4
od: Natacha Sloboda, i dr.
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Correction: Loss of Bardet-Biedl syndrome proteins causes synaptic aberrations in principal neurons.
od: Naila Haq, i dr.
Izdano: (2019-10-01)

Sindroma Laurence-Moon-Bardet-Biedl
od: Perpustakaan UGM, i-lib
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Bardet-Biedl Syndrome: A Rare Entity
od: Anuja Goit, i dr.
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od: Fariah Osman, i dr.
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od: Jamir Pitton Rissardo, i dr.
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Report of four cases of Bardet-Biedl syndrome
od: Paulo Roberto Santos, i dr.
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Burden of hyperphagia and obesity in Bardet–Biedl syndrome: a multicountry survey
od: Elizabeth Forsythe, i dr.
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Atypical association of Duane retraction syndrome and Bardet Biedl syndrome
od: Jethani Jitendra, i dr.
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Early diagnosis of Bardet-Biedl syndrome associated with obesity
Izdano: (2008-03-01)

Bardet-Biedl Syndrome: Current Perspectives and Clinical Outlook
od: Melluso A, i dr.
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Bardet–Biedl syndrome with nonalcoholic steatohepatitis, hypertension, and hypothyroidism
od: Yatendra Singh, i dr.
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Rare cause of pediatric obesity: Bardet - Biedl Syndrome
od: Mitul B Kalathia, i dr.
Izdano: (2014-01-01)

SINDROMUL BARDET-BIEDL – PREZENTARE DE CAZ
od: Sorin Ioan Iurian, i dr.
Izdano: (2015-09-01)

A Case Report on the Bardet Biedl Syndrome with Hypokalaemic Paralysis
od: Prasanth Y.M., i dr.
Izdano: (2013-06-01)

Caregiver burden in Bardet-Biedl syndrome: findings from the CARE-BBS study
od: Elizabeth Forsythe, i dr.
Izdano: (2023-07-01)

Computational and Structural Analysis to Assess the Pathogenicity of Bardet-Biedl Syndrome Related Missense Variants Identified in Bardet-Biedl Syndrome 10 Gene (BBS10)
od: Neha Gupta, i dr.
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Anesthetic management of two cases of Bardet-Biedl syndrome for renal transplantation
od: Kalpana S Vora, i dr.
Izdano: (2017-01-01)

Robot-assisted kidney transplant in a child with Bardet–Biedl Syndrome
od: Nishy Mathew, i dr.
Izdano: (2019-01-01)

Ultrasound evaluation of kidney and liver involvement in Bardet–Biedl syndrome
od: Metin Cetiner, i dr.
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Prenatal diagnosis of Bardet Biedl Syndrome: A case report
od: Ena Arora, MD, i dr.
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A rare case of obesity. Can it be Bardet‐Biedl Syndrome?
od: Sandeep Shrestha, i dr.
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Bardet-Biedl syndrome: The longer we miss, the worse is the outcome
od: Michael Edwar, i dr.
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Bardet–Biedl syndrome: Genetics, molecular pathophysiology, and disease management
od: Sathya Priya, i dr.
Izdano: (2016-01-01)

Laurence-Moon-Bardet-Biedl Syndrome: A case report
od: Md. Mozammel Haque, i dr.
Izdano: (2019-11-01)

Electrophysiological findings of Bardet–Biedl syndrome: a case series
od: Marwa A Tabl
Izdano: (2020-01-01)

Visual acuity and retinal function in patients with Bardet-Biedl syndrome
od: Adriana Berezovsky, i dr.
Izdano: (2012-01-01)