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 and genomic evaluation of 201 patients with Phelan–McDermid syndrome

31 Jan 2014

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 Chromosomal and Genetic Variations
Share to Genomic variations and chromosomal abnormalities
Share to Prenatal Screening and Diagnostics

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 24481935
DOI: 10.1007/s00439-014-1423-7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical and genomic evaluation of 201 patients with Phelan–McDermid syndromePMID 24481935Read ↗

Updated consensus guidelines on the management of Phelan-McDermid syndrome.Semantic proximity Read ↗

Birt-Hogg-Dubé syndrome: diagnosis and managementSemantic proximity Read ↗

Update of Emerinopathies’ clinical-genetic spectrum: the French network experienceSemantic proximity Read ↗

Molecular pathology of Shprintzen-Goldberg syndrome.Semantic proximity Read ↗

Portrait of a Spectrum: Clinical and Genetic Characterization of a Large Cohort of Chromatinopathies-30 Years' Experience From a Third Level Center.Semantic proximity Read ↗

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

Definition and clinical variability of SHANK3-related Phelan-McDermid syndrome.Semantic proximity Read ↗

Associated syndromes in patients with Pierre Robin SequenceSemantic proximity Read ↗

Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement.Semantic proximity Read ↗

Clinical and molecular phenotyping of a child with Hermansky-Pudlak syndrome-7, an uncommon genetic type of HPSSemantic proximity Read ↗

Phelan-McDermid syndrome and cancer predisposition: The value of a karyotype.Semantic proximity Read ↗

PW03-009 – Genetics of PFAPA syndromeSemantic proximity Read ↗

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