X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (58) 58
index medicus (52) 52
female (44) 44
genetics & heredity (41) 41
male (39) 39
adult (33) 33
genetics (31) 31
middle aged (28) 28
aged (16) 16
mutation (16) 16
article (15) 15
biochemistry & molecular biology (15) 15
genetic aspects (15) 15
phenotype (13) 13
gene (12) 12
oncology (12) 12
adolescent (11) 11
chromosome aberrations (11) 11
genes (11) 11
analysis (10) 10
comparative genomic hybridization (10) 10
dna mutational analysis (10) 10
genomics (10) 10
netherlands (10) 10
pedigree (10) 10
germ-line mutation (9) 9
health aspects (9) 9
mutations (9) 9
research (9) 9
diagnosis (8) 8
genetic predisposition to disease (8) 8
germline mutations (8) 8
prevalence (8) 8
aged, 80 and over (7) 7
animals (7) 7
child (7) 7
genomes (7) 7
infectious diseases (7) 7
pathology (7) 7
research article (7) 7
risk factors (7) 7
survival (7) 7
variants (7) 7
women (7) 7
young adult (7) 7
base sequence (6) 6
cell biology (6) 6
intellectual disability (6) 6
paraganglioma - genetics (6) 6
sequence analysis, dna (6) 6
sexual behavior (6) 6
sexually transmitted diseases (6) 6
succinate dehydrogenase - genetics (6) 6
alleles (5) 5
alzheimer's disease (5) 5
autism (5) 5
cancer (5) 5
chromosomal aberrations (5) 5
confined placental mosaicism (5) 5
de-novo mutations (5) 5
dna (5) 5
dna glycosylases - genetics (5) 5
exome (5) 5
exome sequencing (5) 5
gastric cancer (5) 5
gene deletion (5) 5
gene mutations (5) 5
genetic research (5) 5
genetic screening (5) 5
genetic testing (5) 5
genotype (5) 5
health (5) 5
infant (5) 5
men (5) 5
molecular sequence data (5) 5
nucleic acid hybridization (5) 5
original (5) 5
penetrance (5) 5
pregnancy (5) 5
prenatal screening (5) 5
proteins (5) 5
adenomatous polyposis coli - genetics (4) 4
anal intercourse (4) 4
aneurysms (4) 4
b_open_article_in_toll_access_journal (4) 4
case-control studies (4) 4
child, preschool (4) 4
clinical-features (4) 4
colorectal cancer (4) 4
deletion (4) 4
deoxyribonucleic acid--dna (4) 4
epilepsy (4) 4
fetuses (4) 4
gene expression (4) 4
genetic alterations (4) 4
genome-wide nips (4) 4
genotype-phenotype correlations (4) 4
head and neck neoplasms - genetics (4) 4
hereditary paraganglioma (4) 4
heterozygote (4) 4
more...
Library Location Library Location
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


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
Prenatal diagnosis, ISSN 0197-3851, 2016, Volume 36, Issue 12, pp. 1083 - 1090
Journal Article
Nature communications, ISSN 2041-1723, 2019, Volume 10, Issue 1, pp. 1 - 17
Postsynaptic density (PSD) proteins have been implicated in the pathophysiology of neurodevelopmental and psychiatric disorders. Here, we present detailed... 
DE-NOVO MUTATIONS | MEMORY | ANNOTATION | MULTIDISCIPLINARY SCIENCES | GENES | FRAMEWORK | SYNAPTIC DEVELOPMENT | RESOURCE | Mental disorders | Drosophila | Epilepsy | Disorders | Glial cells | Neurodevelopmental disorders | Patients | Neuronal-glial interactions | Proteins | Autism | Mutation | Disruption | Postsynaptic density | Life Sciences | Genetics | Human genetics
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 02/2013, Volume 92, Issue 2, pp. 210 - 220
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
Genetics in medicine, ISSN 1098-3600, 2017, Volume 19, Issue 1, pp. 45 - 52
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
European Journal of Human Genetics, ISSN 1018-4813, 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.... 
Gigh-throughput screening | Clinical genetics | Genetic testing | VARIANTS | CGH | CAPTURE | DEPTH | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | Genomes | Single-nucleotide polymorphism | Genotyping | Copy number
Journal Article
Brain : a journal of neurology, ISSN 0006-8950, 08/2019, Volume 142, Issue 11, pp. 3351 - 3359
Using trio exome sequencing, we identified de novo heterozygous missense variants in PAK1 in four unrelated individuals with intellectual disability,... 
exome sequencing | macrocephaly | Editor's Choice | de novo | Reports | seizures | intellectual disability
Journal Article
Human mutation, ISSN 1059-7794, 2018, Volume 39, Issue 9, pp. 1173 - 1192
Journal Article