X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (38) 38
genetics & heredity (37) 37
index medicus (35) 35
female (29) 29
male (27) 27
mutation (24) 24
child, preschool (18) 18
phenotype (17) 17
life sciences (16) 16
adult (15) 15
child (14) 14
genetics (14) 14
infant (12) 12
middle aged (12) 12
abnormalities, multiple - genetics (11) 11
dysplasia (11) 11
genetic association studies (9) 9
adolescent (8) 8
diagnosis (8) 8
dna mutational analysis (8) 8
gene (8) 8
mutations (8) 8
analysis (7) 7
genetic aspects (7) 7
infant, newborn (7) 7
intellectual disability (7) 7
phenotypes (7) 7
[ sdv ] life sciences [q-bio] (6) 6
article (6) 6
biochemistry & molecular biology (6) 6
genomes (6) 6
pedigree (6) 6
young adult (6) 6
[ sdv.gen ] life sciences [q-bio]/genetics (5) 5
[sdv.gen]life sciences [q-bio]/genetics (5) 5
[sdv]life sciences [q-bio] (5) 5
comparative genomic hybridization (5) 5
deoxyribonucleic acid--dna (5) 5
genotype & phenotype (5) 5
patients (5) 5
sequence deletion (5) 5
spectrum (5) 5
abnormalities, multiple - diagnosis (4) 4
base sequence (4) 4
care and treatment (4) 4
dna sequencing (4) 4
facies (4) 4
gene expression (4) 4
gene mutations (4) 4
genes (4) 4
genetic disorders (4) 4
intellectual disability - genetics (4) 4
medical education (4) 4
mental-retardation (4) 4
protein (4) 4
radiography (4) 4
syndrome (4) 4
aged (3) 3
agenesis (3) 3
chromosome deletion (3) 3
clonal deletion (3) 3
cohort studies (3) 3
collagen (3) 3
collagen type ii - genetics (3) 3
copy number (3) 3
deletion (3) 3
epilepsy (3) 3
exons (3) 3
eye diseases (3) 3
face - abnormalities (3) 3
family (3) 3
gene deletion (3) 3
genomics (3) 3
genotype (3) 3
genotypes (3) 3
haploinsufficiency (3) 3
human genetics (3) 3
identification (3) 3
mutation - genetics (3) 3
of-function mutations (3) 3
pregnancy (3) 3
sequence analysis, dna (3) 3
signal transduction (3) 3
somatic mosaicism (3) 3
ultrasonography, prenatal (3) 3
1506 (2) 2
1q deletion (2) 2
[sdv.bdd]life sciences [q-bio]/development biology (2) 2
[sdv.gen.gh]life sciences [q-bio]/genetics/human genetics (2) 2
[sdv.mhep]life sciences [q-bio]/human health and pathology (2) 2
abnormalities, multiple - diagnostic imaging (2) 2
abnormalities, multiple - pathology (2) 2
abnormalities, multiple - physiopathology (2) 2
alleles (2) 2
animals (2) 2
arrays (2) 2
autism (2) 2
autism spectrum disorders (2) 2
biology and life sciences (2) 2
bone diseases, developmental - diagnosis (2) 2
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, ISSN 1552-4841, 06/2018, Volume 177, Issue 4, pp. 397 - 405
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 02/2017, Volume 173, Issue 2, pp. 435 - 443
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 01/2016, Volume 24, Issue 1, pp. 44 - 50
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 02/2016, Volume 53, Issue 2, pp. 98 - 110
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 01/2015, Volume 23, Issue 1, pp. 92 - 102
Journal Article
Human Mutation, ISSN 1059-7794, 06/2010, Volume 31, Issue 6, pp. E1506 - E1518
Journal Article
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 06/2018, Volume 55, Issue 6, pp. 422 - 429
Journal Article
Human mutation, ISSN 1059-7794, 09/2019
Congenital limb malformations (CLM) comprise many conditions affecting limbs and more than 150 associated genes have been reported. Due to this large... 
Journal Article
Prenatal Diagnosis, ISSN 0197-3851, 10/2013, Volume 33, Issue 10, pp. 1004 - 1006
What's already known about this topic? Recently, a new subgroup of Gaucher's disease type 2 with early manifestations during fetal life has been reported. What... 
TYPE-2 | GENETICS & HEREDITY | OBSTETRICS & GYNECOLOGY | Pregnancy | Young Adult | Phenotype | Fetal Death | Abortion, Eugenic | Ultrasonography, Prenatal | Humans | Adult | Female | Consanguinity | Gaucher Disease - diagnostic imaging | Gene therapy | Acquisitions & mergers
Journal Article
European journal of human genetics, ISSN 1018-4813, 2010, Volume 18, Issue 8, pp. 872 - 880
Journal Article