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Clinical chemistry, ISSN 0009-9147, 06/2019, Volume 65, Issue 6, pp. 720 - 722
Because most laboratories receive only one or two 10-mL blood tubes for testing, and because most tests need at least 1 to 2 mL of plasma, a particular sample... 
Plasma | Amniocentesis | Ploidy | Laboratories | Fetuses | Quality control | Tubes | Systematic review | Genomes | Single-nucleotide polymorphism | Deoxyribonucleic acid--DNA | Polymorphism
Journal Article
Human mutation, ISSN 1059-7794, 2015, Volume 36, Issue 12, pp. 1145 - 1149
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 02/2019, Volume 27, Issue 2, pp. 198 - 202
An important factor in quality control of non-invasive prenatal screening (NIPS) or testing (NIPT) is a sufficient percentage of fetal DNA to avoid... 
DUTCH LABORATORIES | TRIAL | MATERNAL PLASMA | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | CELL-FREE DNA | Trisomy | Statistical analysis | Fetuses | Quality control | Genomes | Bioinformatics | Deoxyribonucleic acid--DNA | Gestational age
Journal Article
Genetics in Medicine, ISSN 1098-3600, 11/2019
Journal Article
Journal of Alzheimer's Disease, ISSN 1387-2877, 01/2017, Volume 56, Issue 1, pp. 63 - 74
textabstractBackground: The major genetic risk factor for late onset Alzheimer's disease (AD) is theAPOE-ϵ4 allele. However,APOE-ϵ4 homozygosity is not fully... 
Genetics | Penetrance | APOE | Alzheimer's disease | SORL1
Journal Article
Journal Article
European journal of human genetics : EJHG, ISSN 1018-4813, 10/2016, Volume 24, Issue 10, pp. 1515 - 1515
Journal Article
Scientific Reports, ISSN 2045-2322, 08/2016, Volume 6, Issue 1, p. 32129
The familial forms of early onset pre-eclampsia and related syndromes (HELLP) present with hypertension and proteinuria in the mother and growth restriction of... 
GENE | MULTIDISCIPLINARY SCIENCES | PLACENTA | LEADS | ALPHA | CELL-CYCLE | 10Q22 | LINKAGE | EXPRESSION | BINDING | LOCUS | Alternative splicing | CRISPR | Chromatin | Transcription | Fetuses | Stop codon | Pre-eclampsia | Chromosome 4 | DNA helicase | Clonal deletion | Eclampsia | Non-coding RNA | Fibroblast growth factor receptor 2 | Proteinuria
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 01/2017, Volume 100, Issue 1, p. 160
  Defects in motile cilia and sperm flagella cause primary ciliary dyskinesia (PCD), characterized by chronic airway disease, infertility, and left-right body... 
Genotype & phenotype | Genetic disorders | Mutation | Chromosomes
Journal Article
Prenatal Diagnosis, ISSN 0197-3851, 07/2016, Volume 36, Issue 7, pp. 614 - 621
Journal Article
Prenatal Diagnosis, ISSN 0197-3851, 07/2016, Volume 36, Issue 7, pp. 614 - 621
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 12/2017, Volume 25, Issue 12, pp. 1354 - 1363
In clinical genetics, detection of single nucleotide polymorphisms (SNVs) as well as copy number variations (CNVs) is essential for patient genotyping.... 
Genetics(clinical) | Genetics
Journal Article
Nucleic Acids Research, ISSN 0305-1048, 2014, Volume 42, Issue 5, pp. e31 - e31
Journal Article
Journal of Alzheimer's Disease, ISSN 1387-2877, 11/2016
BACKGROUND: The major genetic risk factor for late onset Alzheimer's disease (AD) is the APOE-ɛ4 allele. However, APOE-ɛ4 homozygosity is not fully penetrant,... 
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 2012, Volume 20, Issue 1, pp. 11 - 19
Journal Article
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