Discover Community Create You

Loading publication...

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

Article

Clinical utility gene card for: Joubert syndrome--update 2013.

European journal of human genetics : EJHG - 1 Oct 2013

Valente Enza Maria, Brancati Francesco, Boltshauser Eugen, Dallapiccola Bruno

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cerebellum
Share to Abnormalities, Multiple
Share to Cerebellar Diseases
Share to Eye Abnormalities

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Loci

Share to Genetic Predisposition to Disease

Share to Kidney Diseases, Cystic

Share to Retina

Source

Open in PubMed Open full text

Identifiers

PMID: 23403901
DOI: 10.1038/ejhg.2013.10
PMCID: PMC3778348

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical utility gene card for: Joubert syndrome--update 2013.PMID 23403901Read ↗

Clinical utility gene card for: 3-M syndrome - update 2013.Semantic proximity Read ↗

Clinical utility gene card for: Lesch-Nyhan syndrome--update 2013.Semantic proximity Read ↗

Clinical utility gene card for: Gorlin syndrome--update 2013.Semantic proximity Read ↗

Clinical utility gene card for: Meckel syndrome - update 2016.Semantic proximity Read ↗

Clinical utility gene card for: Alport syndrome - update 2014.Semantic proximity Read ↗

Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single centerSemantic proximity Read ↗

Clinical utility gene card for: Non-Syndromic Microphthalmia Including Next-Generation Sequencing-Based Approaches.Semantic proximity Read ↗

Clinical utility gene card for: CHARGE syndrome - update 2015.Semantic proximity Read ↗

Clinical utility gene card for: Peters plus syndrome.Semantic proximity Read ↗

Clinical utility gene card for: Zellweger syndrome spectrum.Semantic proximity Read ↗

Clinical utility gene card for: Williams-Beuren Syndrome [7q11.23].Semantic proximity Read ↗

Clinical utility gene card for: Ehlers-Danlos syndrome types I-VII and variants - update 2012.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.