X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (87) 87
humans (82) 82
genetics & heredity (72) 72
male (56) 56
female (53) 53
mutation (48) 48
phenotype (32) 32
child (30) 30
genetic aspects (26) 26
child, preschool (25) 25
infant (25) 25
genetics (22) 22
mutations (22) 22
syndrome (22) 22
adolescent (21) 21
pedigree (21) 21
adult (20) 20
gene (18) 18
genes (16) 16
abnormalities, multiple - genetics (15) 15
article (15) 15
gene mutations (15) 15
report (15) 15
research (15) 15
genotype & phenotype (14) 14
infant, newborn (14) 14
young adult (14) 14
exome (13) 13
intellectual disability - genetics (13) 13
phenotypes (13) 13
animals (12) 12
genomics (12) 12
health aspects (12) 12
intellectual disability (12) 12
proteins (12) 12
biochemistry & molecular biology (11) 11
children (11) 11
disease (11) 11
facies (10) 10
physiological aspects (10) 10
diagnosis (9) 9
family (9) 9
hutterite (9) 9
identification (9) 9
brain (8) 8
causes of (8) 8
clinical neurology (8) 8
developmental delay (8) 8
disorders (8) 8
genetic disorders (8) 8
genomes (8) 8
genotype (8) 8
homozygote (8) 8
magnetic resonance imaging (8) 8
medical genetics (8) 8
siblings (8) 8
abnormalities, multiple - diagnosis (7) 7
cells (7) 7
chromosome deletion (7) 7
gene expression (7) 7
mental retardation (7) 7
mice (7) 7
mutation, missense (7) 7
abridged index medicus (6) 6
analysis (6) 6
base sequence (6) 6
cerebellar diseases - genetics (6) 6
chromosome mapping (6) 6
complex (6) 6
congenital diseases (6) 6
consanguinity (6) 6
dna sequencing (6) 6
dwarfism - genetics (6) 6
epilepsy (6) 6
expression (6) 6
genetic association studies (6) 6
genetic predisposition to disease (6) 6
genetic research (6) 6
medical research (6) 6
mental-retardation (6) 6
nucleotide sequencing (6) 6
sequence analysis, dna (6) 6
signal transduction (6) 6
zebrafish (6) 6
abnormalities, multiple - pathology (5) 5
amino acid sequence (5) 5
ataxia (5) 5
cerebellum - abnormalities (5) 5
deletion (5) 5
dna mutational analysis (5) 5
ethnic groups - genetics (5) 5
exons (5) 5
eye abnormalities - genetics (5) 5
founder effect (5) 5
genetic counseling (5) 5
hek293 cells (5) 5
heterogeneity (5) 5
high-throughput nucleotide sequencing (5) 5
intellectual disabilities (5) 5
microcephaly - genetics (5) 5
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


The New England Journal of Medicine, ISSN 0028-4793, 01/2017, Volume 376, Issue 1, pp. 83 - 85
An accurate diagnosis is essential for effective medical management; in the case of rare genetic disease, it also guides genetic counseling. Nevertheless,... 
MEDICINE, GENERAL & INTERNAL | DISEASE | Time Factors | Humans | Genetic disorders | Diagnosis | Patients | Health aspects | Genetics | Medical diagnosis | Genetic screening | Index Medicus | Abridged Index Medicus
Journal Article
Nature Genetics, ISSN 1061-4036, 08/2012, Volume 44, Issue 8, pp. 934 - 940
Journal Article
Genetics in Medicine, ISSN 1098-3600, 07/2019
An amendment to this paper has been published and can be accessed via a link at the top of the paper. 
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 10/2016, Volume 375, Issue 14, pp. 1355 - 1364
Journal Article
Genetics in Medicine, ISSN 1098-3600, 06/2019
PURPOSEExome sequencing (ES) can rapidly identify disease-causing variants responsible for rare, single-gene diseases, and potentially reduce the duration of... 
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 04/2019, Volume 179, Issue 4, pp. 674 - 746
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 12/2015, Volume 97, Issue 6, pp. 894 - 903
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 07/2019
The developmental and epileptic encephalopathies (DEE) are a heterogeneous group of chronic encephalopathies frequently associated with rare de novo... 
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 03/2016, Volume 170, Issue 3, pp. 760 - 765
Journal Article
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 12/2018, Volume 178, Issue 4, pp. 387 - 397
Journal Article
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 12/2018, Volume 178, Issue 4, pp. 382 - 386
Due to the efforts of the clinical and scientific communities and boosted by recent advances in genetic technologies, we now understand the molecular... 
associations | malformations | molecular mechanisms | syndromes | IRDiRC | unsolved rare diseases | DEFECTS | MUTATION | GENETICS & HEREDITY | Consortia | Heterogeneity | Molecular modelling | Disorders | Data retrieval | Epigenetics | Mosaicism | New technology | Diagnosis
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 12/2015, Volume 97, Issue 6, pp. 886 - 893
Journal Article
Journal of Obstetrics and Gynaecology Canada, ISSN 1701-2163, 11/2018, Volume 40, Issue 11, pp. 1417 - 1423
Most prenatally identified congenital heart defects (CHDs) are the sole structural anomaly detected; however, there is a subgroup of cases where the specific... 
cardiac anomaly | Prenatal diagnosis | exome | next generation sequencing | congenital heart defect
Journal Article