X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (40) 40
humans (39) 39
genetics & heredity (29) 29
female (26) 26
mutation (24) 24
male (23) 23
genetics (18) 18
article (17) 17
genetic aspects (16) 16
research (16) 16
biochemistry & molecular biology (15) 15
animals (13) 13
gene mutations (12) 12
genomics (11) 11
disease (10) 10
child (9) 9
intellectual disability - genetics (9) 9
mice (9) 9
mutations (9) 9
deoxyribonucleic acid--dna (8) 8
exome (8) 8
biotechnology & applied microbiology (7) 7
cancer (7) 7
cell biology (7) 7
genome, human (7) 7
genomes (7) 7
mental retardation (7) 7
mental-retardation (7) 7
phenotype (7) 7
alleles (6) 6
discovery (6) 6
genetic research (6) 6
genetic variation (6) 6
germ-line mutation (6) 6
identification (6) 6
journal article (6) 6
molecular sequence data (6) 6
multidisciplinary sciences (6) 6
pedigree (6) 6
usage (6) 6
adolescent (5) 5
adult (5) 5
algorithms (5) 5
de-novo mutations (5) 5
dna mutational analysis (5) 5
dna sequencing (5) 5
gene (5) 5
gene expression (5) 5
genes (5) 5
high-throughput nucleotide sequencing (5) 5
high-throughput nucleotide sequencing - methods (5) 5
indel mutation (5) 5
organoids (5) 5
polymorphism, single nucleotide (5) 5
proteins (5) 5
sequence analysis, dna (5) 5
sequence analysis, dna - methods (5) 5
stem cells (5) 5
variants (5) 5
base sequence (4) 4
biochemistry, genetics and molecular biology (4) 4
causes of (4) 4
colorectal cancer (4) 4
copy number variation (4) 4
diagnosis (4) 4
dna (4) 4
exome - genetics (4) 4
expression (4) 4
family (4) 4
gene sequencing (4) 4
genetic disorders (4) 4
genome (4) 4
genotype (4) 4
haplotypes (4) 4
health aspects (4) 4
history (4) 4
middle aged (4) 4
mutation - genetics (4) 4
netherlands (4) 4
pregnancy (4) 4
somatic mutations (4) 4
young adult (4) 4
age (3) 3
amino acid sequence (3) 3
aneuploidy (3) 3
autism spectrum disorders (3) 3
bibliography (3) 3
breast cancer (3) 3
care and treatment (3) 3
child, preschool (3) 3
chromosomes (3) 3
chromothripsis (3) 3
colorectal neoplasms - genetics (3) 3
computational biology (3) 3
copy number (3) 3
corrigendum (3) 3
database (3) 3
dna - blood (3) 3
dna copy number variations (3) 3
exome sequencing (3) 3
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


BMC Genomics, ISSN 1471-2164, 05/2015, Volume 16
Background: Since the completion of the rat reference genome in 2003, whole-genome sequencing data from more than 40 rat strains have become available. These... 
Journal Article
Journal Article
Nature, ISSN 0028-0836, 10/2016, Volume 538, Issue 7624, pp. 260 - 264
Journal Article
Nature Genetics, ISSN 1061-4036, 2010, Volume 42, Issue 12, pp. 1109 - 1112
The per-generation mutation rate in humans is high. De novo mutations may compensate for allele loss due to severely reduced fecundity in common... 
MICE | MUTATIONS | GENE | DYNEIN | GENETICS & HEREDITY | Base Sequence | Humans | Exons - genetics | Female | Male | Mutation - genetics | Sequence Analysis, DNA | Intellectual Disability - genetics | Genetic aspects | Research | Gene mutations | Health aspects | Mental retardation | Risk factors | Studies | Candidates | Disease | Genetics | Mutation | Experiments | Chromosomes
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 03/2015
Noonan syndrome (NS) is a developmental disorder characterized by short stature, facial dysmorphisms and congenital heart defects. To date, all mutations known... 
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 03/2015, Volume 23, Issue 3, p. 317
Noonan syndrome (NS) is a developmental disorder characterized by short stature, facial dysmorphisms and congenital heart defects. To date, all mutations known... 
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 03/2017, Volume 114, Issue 12, pp. E2357 - E2364
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 06/2014
Noonan syndrome (NS) is a developmental disorder characterized by short stature, facial dysmorphisms and congenital heart defects. To date, all mutations known... 
Journal Article
Cell, ISSN 0092-8674, 01/2018, Volume 172, Issue 1-2, pp. 373 - 386.e10
Journal Article