X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (736) 736
Publication (62) 62
Conference Proceeding (57) 57
Book Review (53) 53
Patent (7) 7
Book Chapter (2) 2
Dissertation (1) 1
Magazine Article (1) 1
Reference (1) 1
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (431) 431
humans (406) 406
genetics & heredity (322) 322
female (304) 304
male (280) 280
syndrome (144) 144
child (138) 138
adult (117) 117
mutation (112) 112
phenotype (111) 111
child, preschool (110) 110
infant, newborn (99) 99
abnormalities, multiple - genetics (97) 97
adolescent (88) 88
infant (83) 83
genetics (67) 67
intellectual disability - genetics (60) 60
genetic aspects (59) 59
life sciences (57) 57
pedigree (55) 55
animals (54) 54
pregnancy (52) 52
mutations (50) 50
biochemistry & molecular biology (49) 49
gene (47) 47
abnormalities, multiple - diagnosis (46) 46
abnormalities, multiple - pathology (40) 40
genotype (40) 40
radiography (38) 38
young adult (38) 38
mental retardation (37) 37
research (36) 36
dna mutational analysis (35) 35
mice (35) 35
gene mutations (34) 34
genes (34) 34
middle aged (34) 34
genetic disorders (33) 33
mental-retardation (33) 33
face - abnormalities (32) 32
pediatrics (32) 32
article (30) 30
molecular sequence data (28) 28
diagnosis (27) 27
analysis (26) 26
karyotyping (26) 26
microcephaly - genetics (26) 26
prenatal diagnosis (26) 26
microcephaly (24) 24
phenotypes (24) 24
abridged index medicus (23) 23
diagnosis, differential (23) 23
mutation - genetics (23) 23
patient (23) 23
chromosome deletion (22) 22
family (22) 22
health aspects (22) 22
intellectual disabilities (22) 22
patients (22) 22
abnormalities (21) 21
genotype & phenotype (21) 21
medical education (21) 21
proteins (21) 21
autism (20) 20
human genetics (20) 20
intellectual disability (20) 20
noonan syndrome (20) 20
children (19) 19
gene deletion (19) 19
in situ hybridization, fluorescence (19) 19
noonan syndrome - genetics (19) 19
risk factors (19) 19
amino acid sequence (18) 18
base sequence (18) 18
clinical neurology (18) 18
consanguinity (18) 18
disease (18) 18
dysplasia (18) 18
gastroenterology & hepatology (18) 18
neurosciences (18) 18
alleles (17) 17
anomalies (17) 17
brain - abnormalities (17) 17
genes, recessive (17) 17
genetic association studies (17) 17
genomics (17) 17
magnetic resonance imaging (17) 17
micrococcus - immunology (17) 17
dna-binding proteins - genetics (16) 16
heart defects, congenital - genetics (16) 16
intellectual disability - pathology (16) 16
obesity (16) 16
cohort studies (15) 15
craniofacial abnormalities - genetics (15) 15
facies (15) 15
fatal outcome (15) 15
haploinsufficiency (15) 15
identification (15) 15
spectrum (15) 15
brain (14) 14
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Nature Genetics, ISSN 1061-4036, 2017, Volume 49, Issue 2, pp. 238 - 248
Journal Article
Journal Article
Journal Article
Journal of Infectious Diseases, ISSN 0022-1899, 2018, Volume 218, Issue 5, pp. 748 - 756
Journal Article
Nature Genetics, ISSN 1061-4036, 2012, Volume 44, Issue 4, pp. 440 - 444, S1-2
Journal Article
Transport Policy, ISSN 0967-070X, 05/2019, Volume 77, pp. 68 - 78
Journal Article
Journal Article
Nature Genetics, ISSN 1061-4036, 11/2014, Volume 47, Issue 1, pp. 73 - 77
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 08/2012, Volume 49, Issue 8, pp. 502 - 512
Journal Article