Copy-number variation - Open Access .click

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Copy number variation in MODY diabetes - Familial case presentation

Genetics & Applications, 2018
MODY (maturity-onset diabetes of the young) is an autosomal dominant form of diabetes that is usually manifested before the 25-year of life. This type of diabetes is caused by defects in the primary insulin secretion.
Naida Lojo-Kadric +4 more
doaj +1 more source

Accurate and reliable high-throughput detection of copy number variation in the human genome [PDF]

, 2006
Heike Fiegler +26 more
openalex +1 more source

Copy-Number Variations Measured by Single-Nucleotide–Polymorphism Oligonucleotide Arrays in Patients with Mental Retardation [PDF]

, 2007
Janine Wagenstaller +10 more
openalex +1 more source

Copy number variations in autistic children

Biomedical Reports
Autism spectrum disorder (ASD) manifests as a neurodevelopmental condition marked by challenges in social communication, interaction and the performing of repetitive behaviors. The prevalence of autism increases markedly on an annual basis; however, the etiology remains incompletely understood.
Alhazmi, Safiah +9 more
openaire +2 more sources

Sensitive and Specific Real-Time Polymerase Chain Reaction Assays to Accurately Determine Copy Number Variations (CNVs) of Human Complement C4A, C4B, C4-Long, C4-Short, and RCCX Modules: Elucidation of C4 CNVs in 50 Consanguineous Subjects with Defined HLA Genotypes [PDF]