X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (398) 398
Publication (45) 45
Book Review (33) 33
Conference Proceeding (4) 4
Book Chapter (1) 1
Dissertation (1) 1
Reference (1) 1
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (263) 263
humans (260) 260
genetics & heredity (215) 215
female (192) 192
male (183) 183
child (106) 106
syndrome (87) 87
mutation (84) 84
child, preschool (82) 82
adult (80) 80
phenotype (76) 76
adolescent (62) 62
genetics (62) 62
abnormalities, multiple - genetics (61) 61
infant (60) 60
infant, newborn (55) 55
genetic aspects (46) 46
life sciences (45) 45
intellectual disability - genetics (41) 41
mutations (41) 41
pedigree (41) 41
biochemistry & molecular biology (36) 36
gene (36) 36
radiography (30) 30
abnormalities, multiple - diagnosis (28) 28
abnormalities, multiple - pathology (28) 28
genes (28) 28
genotype (28) 28
article (27) 27
pregnancy (27) 27
gene mutations (26) 26
mental-retardation (26) 26
dna mutational analysis (25) 25
research (25) 25
young adult (25) 25
molecular sequence data (23) 23
mental retardation (22) 22
animals (21) 21
diagnosis (21) 21
genetic disorders (20) 20
microcephaly - genetics (20) 20
medical education (19) 19
autism (18) 18
microcephaly (18) 18
middle aged (18) 18
mutation - genetics (18) 18
gene deletion (17) 17
health aspects (17) 17
noonan syndrome - genetics (17) 17
phenotypes (17) 17
proteins (17) 17
amino acid sequence (16) 16
analysis (16) 16
base sequence (16) 16
face - abnormalities (16) 16
family (16) 16
genetic association studies (16) 16
genomics (16) 16
human genetics (16) 16
patient (16) 16
abnormalities (15) 15
abridged index medicus (15) 15
anomalies (15) 15
dysplasia (15) 15
heart defects, congenital - genetics (15) 15
identification (15) 15
intellectual disability (15) 15
noonan syndrome (15) 15
risk factors (15) 15
spectrum (15) 15
chromosome deletion (14) 14
diagnosis, differential (14) 14
dna-binding proteins - genetics (14) 14
genotype & phenotype (14) 14
intellectual disabilities (14) 14
karyotyping (14) 14
obesity (14) 14
children (13) 13
consanguinity (13) 13
developmental disabilities - genetics (13) 13
facies (13) 13
fatal outcome (13) 13
in situ hybridization, fluorescence (13) 13
mutation, missense (13) 13
pediatrics (13) 13
physiological aspects (13) 13
alleles (12) 12
cohort studies (12) 12
craniofacial abnormalities - genetics (12) 12
magnetic resonance imaging (12) 12
mice (12) 12
neurosciences (12) 12
prenatal diagnosis (12) 12
chromosome aberrations (11) 11
deletion (11) 11
expression (11) 11
genes, recessive (11) 11
genetic predisposition to disease (11) 11
haploinsufficiency (11) 11
heterogeneity (11) 11
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Journal Article
Journal Article
Nature Genetics, ISSN 1061-4036, 2012, Volume 44, Issue 4, pp. 440 - 444, S1-2
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
Nature Genetics, ISSN 1061-4036, 03/2013, Volume 45, Issue 3, pp. 308 - 313
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 12/2007, Volume 44, Issue 12, pp. 763 - 771
Journal Article