Article

Performing whole-exome sequencing in Bardet-Bield syndrome

2015-01-01

Abstract excerpt

No abstract is available from the source.

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 82d5dd9b-31c2-5d89-880c-36bf176083aa
DOI: 10.1186/2046-2530-4-s1-p11
PMCID: PMC4518665

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Performing whole-exome sequencing in Bardet-Bield syndromeDOI 10.1186/2046-2530-4-s1-p11Read

Exome sequencing in Brown-Vialetto-van Laere syndrome.Semantic proximity Read

A commentary on the promise of whole-exome sequencing in medical genetics.Semantic proximity Read

Special report: exome sequencing for clinical diagnosis of patients with suspected genetic disorders.Semantic proximity Read

Whole Exome Sequencing in 11 Iranian Patients Expands the Mutational and Clinical Spectrum of Bardet- Biedl SyndromeSemantic proximity Read

OR9-001 - Exome sequencing in monogenic Behçet-like diseaseSemantic proximity Read

Exome Sequencing in 9 Iranian Patients Expands the Mutational and Clinical Spectrum of Bardet-Biedl Syndrome.Semantic proximity Read

Use of whole-exome sequencing for the diagnosis of atypical Birt-Hogg-Dubé syndrome.Semantic proximity Read

Exome sequencing as a diagnostic tool to identify a causal mutation in genetically highly heterogeneous limb-girdle muscular dystrophy.Semantic proximity Read

Exome/Genome Sequencing in Undiagnosed SyndromesSemantic proximity Read

Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous Couples.Semantic proximity Read

The diagnostic utility of exome sequencing in Joubert syndrome and related disordersSemantic proximity Read

Using a combination of whole-exome sequencing and homozygosity mapping to identify a novel mutation of SCARB2.Semantic proximity Read