Pathogenic Copy Number Variations Involved in the Genetic Etiology of Syndromic and Non-Syndromic In...
Pathogenic Copy Number Variations Involved in the Genetic Etiology of Syndromic and Non-Syndromic Intellectual Disability-Data from a Romanian Cohort
About this item
Full title
Author / Creator
Ro-NMCA-ID Group , CExBR Pediatric Neurology Obregia Group , CExBR Pediatric Neurology “V. Gomoiu” Hospital Group , Streață, Ioana , Caramizaru, Alexandru , Riza, Anca-Lelia , Șerban-Sosoi, Simona , Pîrvu, Andrei , Cara, Monica-Laura , Cucu, Mihai-Gabriel , Dobrescu, Amelia Mihaela , Ro-Nmca-Id Group , CExBR Pediatric Neurology Obregia Group , CExBR Pediatric Neurology V Gomoiu Hospital Group , Shelby, Elena-Silvia , Albeanu, Adriana , Burada, Florin and Ioana, Mihai
Publisher
Switzerland: MDPI AG
Journal title
Language
English
Formats
Publication information
Publisher
Switzerland: MDPI AG
Subjects
More information
Scope and Contents
Contents
The investigation of unexplained global developmental delay (GDD)/intellectual disability (ID) is challenging. In low resource settings, patients may not follow a standardized diagnostic process that makes use of the benefits of advanced technologies. Our study aims to explore the contribution of chromosome microarray analysis (CMA) in identifying...
Alternative Titles
Full title
Pathogenic Copy Number Variations Involved in the Genetic Etiology of Syndromic and Non-Syndromic Intellectual Disability-Data from a Romanian Cohort
Authors, Artists and Contributors
Author / Creator
CExBR Pediatric Neurology Obregia Group
CExBR Pediatric Neurology “V. Gomoiu” Hospital Group
Streață, Ioana
Caramizaru, Alexandru
Riza, Anca-Lelia
Șerban-Sosoi, Simona
Pîrvu, Andrei
Cara, Monica-Laura
Cucu, Mihai-Gabriel
Dobrescu, Amelia Mihaela
Ro-Nmca-Id Group
CExBR Pediatric Neurology Obregia Group
CExBR Pediatric Neurology V Gomoiu Hospital Group
Shelby, Elena-Silvia
Albeanu, Adriana
Burada, Florin
Ioana, Mihai
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_09c88a287b2a4ef8af2ea46572d5411f
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_09c88a287b2a4ef8af2ea46572d5411f
Other Identifiers
ISSN
2075-4418
E-ISSN
2075-4418
DOI
10.3390/diagnostics12123137
