REVIEW
|
doi:10.20944/preprints202001.0353.v1
Subject:
Biology And Life Sciences,
Biochemistry And Molecular Biology
Keywords:
chromothripsis; structural variants; DNA-repair; DNA-repair disorders; DNA-double strand breaks (DSBs); ataxia telangiectasia mutated (ATM); ataxia-telangiectasia and Rad3-related (ATR); TP53; micronuclei; chromosome pulverization.
Online: 29 January 2020 (11:58:58 CET)
ARTICLE
|
doi:10.20944/preprints201812.0185.v1
Subject:
Medicine And Pharmacology,
Obstetrics And Gynaecology
Keywords:
Fluorescence in situ hybridization (FISH), Karyotype, array comparative genomic hybridization (aCGH), amniotic fluid (AF), chorionic villus sampling (CVS), aneuploidies, pathogenic copy number variants (pCNV), confined placental mosaicism (CPM), true fetal mosaicism (TFM), pseudo-mosaicism.
Online: 17 December 2018 (09:58:43 CET)