X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (122) 122
genetics & heredity (109) 109
index medicus (93) 93
male (83) 83
female (77) 77
mutation (46) 46
phenotype (42) 42
child (38) 38
infant (35) 35
syndrome (35) 35
mutations (33) 33
child, preschool (30) 30
genetic aspects (30) 30
genes (26) 26
adult (25) 25
genetics (25) 25
biochemistry & molecular biology (24) 24
infant, newborn (22) 22
adolescent (20) 20
pedigree (19) 19
abnormalities, multiple - genetics (18) 18
gene (18) 18
diagnosis (17) 17
identification (16) 16
pediatrics (16) 16
research (16) 16
dna methylation (15) 15
genomes (15) 15
genotype (15) 15
abnormalities, multiple - pathology (14) 14
animals (14) 14
beckwith-wiedemann syndrome (14) 14
dna mutational analysis (14) 14
methylation (14) 14
chromosome deletion (13) 13
genomics (13) 13
tumors (13) 13
analysis (12) 12
beckwith-wiedemann syndrome - genetics (12) 12
gene mutations (12) 12
medicine (12) 12
molecular sequence data (12) 12
patients (12) 12
article (11) 11
base sequence (11) 11
chromosome aberrations (11) 11
dysplasia (11) 11
exons (11) 11
gene expression (11) 11
genetic disorders (11) 11
human genetics (11) 11
osteogenesis imperfecta (11) 11
proteins (11) 11
expression (10) 10
genetic research (10) 10
intellectual disability - genetics (10) 10
phenotypes (10) 10
pregnancy (10) 10
beckwith-wiedemann syndrome - diagnosis (9) 9
chromosomes (9) 9
deoxyribonucleic acid--dna (9) 9
genetic screening (9) 9
imprinting (9) 9
in situ hybridization, fluorescence (9) 9
mice (9) 9
spain (9) 9
young adult (9) 9
cancer (8) 8
comparative genomic hybridization (8) 8
congenital diseases (8) 8
deletion (8) 8
disease (8) 8
genetic association studies (8) 8
genotype & phenotype (8) 8
medicine, research & experimental (8) 8
middle aged (8) 8
overgrowth (8) 8
overgrowth syndrome (8) 8
patient (8) 8
proteins - genetics (8) 8
research article (8) 8
amino acid sequence (7) 7
beckwith-wiedemann-syndrome (7) 7
facies (7) 7
genetic predisposition to disease (7) 7
genomic imprinting (7) 7
homozygote (7) 7
intellectual disability (7) 7
multidisciplinary sciences (7) 7
mutation - genetics (7) 7
mutation, missense (7) 7
osteogenesis imperfecta - genetics (7) 7
polymorphism, single nucleotide (7) 7
prenatal diagnosis (7) 7
protein (7) 7
signal transduction (7) 7
uniparental disomy (7) 7
alleles (6) 6
amino acid substitution (6) 6
biomedicine (6) 6
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


Journal of Genetic Counseling, ISSN 1059-7700, 6/2018, Volume 27, Issue 3, pp. 732 - 743
Journal Article
Journal Article
Human Mutation, ISSN 1059-7794, 02/2012, Volume 33, Issue 2, pp. 343 - 350
Journal Article
Human Mutation, ISSN 1059-7794, 04/2013, Volume 34, Issue 4, pp. 595 - 602
Journal Article
Journal Article