Topics Community

t/retina

Retina

Discuss literature indexed with the corpus topic “Retina”.

0 members0 posts114 articles

Start the first discussion

Ask a question, share context or link a publication.

Topic rules

Follow Noodle’s community and scientific integrity rules.

Moderators

Managed by the Noodle moderation team.

Related literature

Expanding the Phenotypic Spectrum of Pathogenic KIAA0586 Variants: From Joubert Syndrome to Hydrolethalus Syndrome.
Retina
Syndromic ciliopathy: a taiwanese single-center study.
Retina
Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome.
Retina
Expanding the Phenotype of the FAM149B1-Related Ciliopathy and Identification of Three Neurogenetic Disorders in a Single Family.
Retina
Third case of Bardet-Biedl syndrome caused by a biallelic variant predicted to affect splicing of IFT74.
Retina
A novel heterotaxy gene: Expansion of the phenotype of TTC21B-spectrum disease.
Retina
Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review.
Retina
Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.
Retina
IFT81 as a Candidate Gene for Nonsyndromic Retinal Degeneration.
Retina
Characterizing the morbid genome of ciliopathies.
Retina

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details