Genotype-phenotype correlation in Bardet-Biedl Syndrome

Genotype-phenotype correlation in Bardet-Biedl Syndrome

Bibliografiska uppgifter
Huvudupphovsmän:	Forsythe, E, Sparks, K, Huda, M, Hazlehurst, J, Muajhid, S, Carroll, P, McGowan, B, Tomlinson, J, Mohammed, S, Beales, P
Materialtyp:	Conference item
Publicerad:	2012

Liknande verk

The endocrine and metabolic characteristics of a large Bardet-Biedl syndrome clinic population
av: Mujahid, S, et al.
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Managing Bardet–Biedl Syndrome—Now and in the Future
av: Elizabeth Forsythe, et al.
Publicerad: (2018-02-01)

Energy metabolism in Bardet-Biedl syndrome.
av: Grace, C, et al.
Publicerad: (2003)

Review of the phenotypes and genotypes of Bardet-Biedl syndrome from China
av: Zou Xin-Yi, et al.
Publicerad: (2023-11-01)

Bardet-Biedl syndrome
av: Mujammel Haque, et al.
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A Genotype–Phenotype Analysis of the Bardet–Biedl Syndrome in Puerto Rico
av: Guardiola GA, et al.
Publicerad: (2021-09-01)

Molecular and phenotypic characteristics of Bardet-Biedl syndrome in Chinese patients
av: Shiyang Gao, et al.
Publicerad: (2024-04-01)

Síndroma de Bardet-Biedl.
av: Luís Siopa, et al.
Publicerad: (2002-02-01)

Retinal Findings in Bardet-Biedl Syndrome
av: Mukut Roy, et al.
Publicerad: (2014-11-01)

Laurence-Moon-Bardet-Biedl Syndrome
av: JK Sahu, et al.
Publicerad: (2008-10-01)

Bardet–Biedl Syndrome in an Ethiopian
av: Tsegaw A, et al.
Publicerad: (2021-03-01)

Genetic testing for Bardet-Biedl syndrome
av: Abeshi Andi, et al.
Publicerad: (2017-10-01)

Bardet–Biedl syndrome: a case series
av: Omer Ali Mohamed Ahmed Elawad, et al.
Publicerad: (2022-04-01)

Atypical phenotype of a patient with Bardet–Biedl syndrome type 4
av: Natacha Sloboda, et al.
Publicerad: (2022-05-01)

Correction: Loss of Bardet-Biedl syndrome proteins causes synaptic aberrations in principal neurons.
av: Naila Haq, et al.
Publicerad: (2019-10-01)

Sindroma Laurence-Moon-Bardet-Biedl
av: Perpustakaan UGM, i-lib
Publicerad: (1985)

Bardet-Biedl Syndrome: A Rare Entity
av: Anuja Goit, et al.
Publicerad: (2022-08-01)

Bangladeshi Case Series of Bardet–Biedl Syndrome
av: Fariah Osman, et al.
Publicerad: (2023-01-01)

Laurence-moon-biedl-bardet syndrome: An overview
av: Jamir Pitton Rissardo, et al.
Publicerad: (2021-01-01)

Report of four cases of Bardet-Biedl syndrome
av: Paulo Roberto Santos, et al.
Publicerad: (2014-04-01)

Burden of hyperphagia and obesity in Bardet–Biedl syndrome: a multicountry survey
av: Elizabeth Forsythe, et al.
Publicerad: (2023-07-01)

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

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

Bardet-Biedl Syndrome: Current Perspectives and Clinical Outlook
av: Melluso A, et al.
Publicerad: (2023-01-01)

Bardet–Biedl syndrome with nonalcoholic steatohepatitis, hypertension, and hypothyroidism
av: Yatendra Singh, et al.
Publicerad: (2016-01-01)

Rare cause of pediatric obesity: Bardet - Biedl Syndrome
av: Mitul B Kalathia, et al.
Publicerad: (2014-01-01)

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

A Case Report on the Bardet Biedl Syndrome with Hypokalaemic Paralysis
av: Prasanth Y.M., et al.
Publicerad: (2013-06-01)

Caregiver burden in Bardet-Biedl syndrome: findings from the CARE-BBS study
av: Elizabeth Forsythe, et al.
Publicerad: (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)
av: Neha Gupta, et al.
Publicerad: (2022-10-01)

Anesthetic management of two cases of Bardet-Biedl syndrome for renal transplantation
av: Kalpana S Vora, et al.
Publicerad: (2017-01-01)

Robot-assisted kidney transplant in a child with Bardet–Biedl Syndrome
av: Nishy Mathew, et al.
Publicerad: (2019-01-01)

Ultrasound evaluation of kidney and liver involvement in Bardet–Biedl syndrome
av: Metin Cetiner, et al.
Publicerad: (2024-11-01)

Prenatal diagnosis of Bardet Biedl Syndrome: A case report
av: Ena Arora, MD, et al.
Publicerad: (2023-01-01)

A rare case of obesity. Can it be Bardet‐Biedl Syndrome?
av: Sandeep Shrestha, et al.
Publicerad: (2019-09-01)

Bardet-Biedl syndrome: The longer we miss, the worse is the outcome
av: Michael Edwar, et al.
Publicerad: (2022-09-01)

Bardet–Biedl syndrome: Genetics, molecular pathophysiology, and disease management
av: Sathya Priya, et al.
Publicerad: (2016-01-01)

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

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

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