Bardet Biedl Syndrome (bbs) - Histology

Relevant Publications

Refractive errors in patients with Bardet Biedl syndrome.

Issue Release: 2024

The Clinical and Mutational Spectrum of Bardet-Biedl Syndrome in Saudi Arabia.

Issue Release: 2024

Forward genetic screen of the C. elegans million mutation library reveals essential, cell-autonomous contributions of BBSome proteins to dopamine signaling.

Issue Release: 2024

Bardet-Biedl syndrome with unique manifestations of congenital giant nevi and refractory anemia: a case report from Palestine.

Issue Release: 2024

LZTFL1, a rare cause of Bardet-Biedl syndrome: A new patient with severe short stature and moderate intellectual disability, more than casual associations?

Issue Release: 2024

Syndromic ciliopathy: a taiwanese single-center study.

Issue Release: 2024

Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations.

Issue Release: 2024

Homozygous Pathogenic Variant in BBS9 Gene: A Detailed Case Study of Bardet-Biedl Syndrome.

Issue Release: 2024

Neonatal Hydrocolpos in Bardet-Biedl syndrome due to a novel frameshift indel in the BBS10 gene.

Issue Release: 2024

Molecular and phenotypic characteristics of Bardet-Biedl syndrome in Chinese patients.

Issue Release: 2024

Rod-sparing in a bardet-biedl syndrome patient with mutations in the ARL6 gene.

Issue Release: 2024

Whole Genome Sequencing Solves an Atypical Form of Bardet-Biedl Syndrome: Identification of Novel Pathogenic Variants of .

Issue Release: 2024

Unveiling the Spectrum of Otorhinolaryngological Manifestations in Siblings With Bardet-Biedl Syndrome: A Report of Two Cases.

Issue Release: 2024

Adipocyte-Specific Disruption of the BBSome Causes Metabolic and Autonomic Dysfunction.

Issue Release: 2024

Bardet-Biedl syndrome: A clinical overview focusing on diagnosis, outcomes and best-practice management.

Issue Release: 2024

[Improved Care and Treatment Options for Patients with Hyperphagia-Associated Obesity in Bardet-Biedl Syndrome].

Issue Release: 2024

Autosomal Recessive Rod-Cone Dystrophy with Mild Extra-Ocular Manifestations Due to a Splice-Affecting Variant in .

Issue Release: 2024

BBS genes are involved in accelerated proliferation and early differentiation of BBS-related tissues.

Issue Release: 2024

Phenotypic and genotypic analysis of 11 fetal cases with Bardet-Biedl syndrome.

Issue Release: 2024

Bardet-Biedl syndrome in a 19-year-old male: the first case report from Palestine.

Issue Release: 2024

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