Genotype-phenotype correlation in Bardet-Biedl Syndrome

Genotype-phenotype correlation in Bardet-Biedl Syndrome

Xehetasun bibliografikoak
Egile Nagusiak:	Forsythe, E, Sparks, K, Huda, M, Hazlehurst, J, Muajhid, S, Carroll, P, McGowan, B, Tomlinson, J, Mohammed, S, Beales, P
Formatua:	Conference item
Argitaratua:	2012

Antzeko izenburuak

The endocrine and metabolic characteristics of a large Bardet-Biedl syndrome clinic population
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Managing Bardet–Biedl Syndrome—Now and in the Future
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Energy metabolism in Bardet-Biedl syndrome.
nork: Grace, C, et al.
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Review of the phenotypes and genotypes of Bardet-Biedl syndrome from China
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Bardet-Biedl syndrome
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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
nork: Shiyang Gao, et al.
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Síndroma de Bardet-Biedl.
nork: Luís Siopa, et al.
Argitaratua: (2002-02-01)

Retinal Findings in Bardet-Biedl Syndrome
nork: Mukut Roy, et al.
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Laurence-Moon-Bardet-Biedl Syndrome
nork: JK Sahu, et al.
Argitaratua: (2008-10-01)

Bardet–Biedl Syndrome in an Ethiopian
nork: Tsegaw A, et al.
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Genetic testing for Bardet-Biedl syndrome
nork: Abeshi Andi, et al.
Argitaratua: (2017-10-01)

Bardet–Biedl syndrome: a case series
nork: Omer Ali Mohamed Ahmed Elawad, et al.
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Atypical phenotype of a patient with Bardet–Biedl syndrome type 4
nork: Natacha Sloboda, et al.
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Correction: Loss of Bardet-Biedl syndrome proteins causes synaptic aberrations in principal neurons.
nork: Naila Haq, et al.
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Sindroma Laurence-Moon-Bardet-Biedl
nork: Perpustakaan UGM, i-lib
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Bardet-Biedl Syndrome: A Rare Entity
nork: Anuja Goit, et al.
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Bangladeshi Case Series of Bardet–Biedl Syndrome
nork: Fariah Osman, et al.
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Laurence-moon-biedl-bardet syndrome: An overview
nork: Jamir Pitton Rissardo, et al.
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Report of four cases of Bardet-Biedl syndrome
nork: Paulo Roberto Santos, et al.
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Burden of hyperphagia and obesity in Bardet–Biedl syndrome: a multicountry survey
nork: Elizabeth Forsythe, et al.
Argitaratua: (2023-07-01)

Atypical association of Duane retraction syndrome and Bardet Biedl syndrome
nork: Jethani Jitendra, et al.
Argitaratua: (2007-01-01)

Early diagnosis of Bardet-Biedl syndrome associated with obesity
Argitaratua: (2008-03-01)

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

SINDROMUL BARDET-BIEDL – PREZENTARE DE CAZ
nork: Sorin Ioan Iurian, et al.
Argitaratua: (2015-09-01)

A Case Report on the Bardet Biedl Syndrome with Hypokalaemic Paralysis
nork: Prasanth Y.M., et al.
Argitaratua: (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)
nork: Neha Gupta, et al.
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Anesthetic management of two cases of Bardet-Biedl syndrome for renal transplantation
nork: Kalpana S Vora, et al.
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Robot-assisted kidney transplant in a child with Bardet–Biedl Syndrome
nork: Nishy Mathew, et al.
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Ultrasound evaluation of kidney and liver involvement in Bardet–Biedl syndrome
nork: Metin Cetiner, et al.
Argitaratua: (2024-11-01)

Prenatal diagnosis of Bardet Biedl Syndrome: A case report
nork: Ena Arora, MD, et al.
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A rare case of obesity. Can it be Bardet‐Biedl Syndrome?
nork: Sandeep Shrestha, et al.
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Bardet-Biedl syndrome: The longer we miss, the worse is the outcome
nork: Michael Edwar, et al.
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Bardet–Biedl syndrome: Genetics, molecular pathophysiology, and disease management
nork: Sathya Priya, et al.
Argitaratua: (2016-01-01)

Laurence-Moon-Bardet-Biedl Syndrome: A case report
nork: Md. Mozammel Haque, et al.
Argitaratua: (2019-11-01)

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

Visual acuity and retinal function in patients with Bardet-Biedl syndrome
nork: Adriana Berezovsky, et al.
Argitaratua: (2012-01-01)