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

Characterization of an Emirati TMEM138 mutation leading to Joubert syndrome.

Pediatrics international : official journal of the Japan Pediatric Society - 1 Jan 2017

Bizzari Sami, Hamzeh Abdul Rezzak, Nair Pratibha, Mohamed Madiha, Bastaki Fatma

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 Abnormalities, Multiple
Share to Cerebellum
Share to Eye Abnormalities
Share to Kidney Diseases, Cystic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Magnetic Resonance Imaging

Share to Retina

Share to RNA Splice Sites

Share to United Arab Emirates

Source

Identifiers

PMID: 28102635
DOI: 10.1111/ped.13158

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Characterization of an Emirati TMEM138 mutation leading to Joubert syndrome.PMID 28102635Read ↗

Molecular and phenotypic evaluation of a novel germline TMEM127 mutation with an uncommon clinical presentation.Semantic proximity Read ↗

Joubert Syndrome 2 (JBTS2) in Ashkenazi Jews Is Associated with a TMEM216 MutationSemantic proximity Read ↗

Novel compound heterozygous TMEM67 variants in a Vietnamese family with Joubert syndrome: a case report.Semantic proximity Read ↗

A Common Ancestral Asn242Ser Mutation in TMEM67 Identified in Multiple Iranian Families with Joubert Syndrome.Semantic proximity Read ↗

A case of Joubert syndrome caused by novel compound heterozygous variants in the TMEM67 gene.Semantic proximity Read ↗

[Phenotype and genotype analysis of a pedigree affected with Joubert syndrome due to variant of TMEM237 gene].Semantic proximity Read ↗

A novel deletion mutation involving TMEM38B in a patient with autosomal recessive osteogenesis imperfectaSemantic proximity Read ↗

Molecular characterization of Joubert syndrome in Saudi Arabia.Semantic proximity Read ↗

EPM2A in-frame deletion slows neurological decline in Lafora Disease.Semantic proximity Read ↗

A biallelic loss-of-function variant in TMEM147 causes profound intellectual disability and spasticity.Semantic proximity Read ↗

Large in-frame intragenic deletion of OPHN1 in a male patient with a normal intelligence quotient score.Semantic proximity Read ↗

Novel variant CPLANE 1: c.5051C>A (p.Ser1684Ter) in an Indian neonate with Joubert syndrome.Semantic proximity Read ↗

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