X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (83) 83
genetics & heredity (82) 82
index medicus (60) 60
female (59) 59
male (54) 54
child (38) 38
child, preschool (33) 33
article (29) 29
phenotype (29) 29
abnormalities, multiple - genetics (27) 27
infant (24) 24
syndrome (24) 24
adolescent (21) 21
genetic aspects (21) 21
mutation (21) 21
research (21) 21
adult (20) 20
chromosome deletion (19) 19
genetics (19) 19
comparative genomic hybridization (16) 16
intellectual disability - genetics (16) 16
gene (15) 15
homologous recombination (15) 15
in situ hybridization, fluorescence (15) 15
genomics (14) 14
infant, newborn (14) 14
animals (13) 13
autism (12) 12
base sequence (12) 12
chromosomes, human, pair 17 (11) 11
chromosomes, human, pair 17 - genetics (11) 11
deletion (11) 11
gene deletion (11) 11
genetic disorders (11) 11
interstitial deletion (11) 11
mutations (11) 11
risk factors (11) 11
diagnosis (10) 10
mental-retardation (10) 10
pedigree (10) 10
sequence analysis, dna (10) 10
smith-magenis syndrome (10) 10
children (9) 9
genes (9) 9
genetic variation (9) 9
intellectual disability (9) 9
mice (9) 9
molecular sequence data (9) 9
pediatrics (9) 9
smith-magenis-syndrome (9) 9
biochemistry & molecular biology (8) 8
developmental delay (8) 8
phenotypes (8) 8
rai1 (8) 8
sequence deletion (8) 8
smith-magenis syndrome - genetics (8) 8
young adult (8) 8
17p11.2 (7) 7
abnormalities, multiple (7) 7
alleles (7) 7
amino acid sequence (7) 7
chromosome 17 (7) 7
chromosome disorders (7) 7
developmental disabilities - genetics (7) 7
genomic disorders (7) 7
haploinsufficiency (7) 7
health aspects (7) 7
physiological aspects (7) 7
proteins (7) 7
proteins - genetics (7) 7
report (7) 7
abnormalities (6) 6
abnormalities, multiple - diagnosis (6) 6
age (6) 6
analysis (6) 6
care and treatment (6) 6
chromosome duplication (6) 6
chromosome mapping (6) 6
disease (6) 6
duplication (6) 6
exome sequencing (6) 6
genomes (6) 6
genotype (6) 6
genotype & phenotype (6) 6
karyotyping (6) 6
magnetic resonance imaging (6) 6
mental retardation (6) 6
parietal foramina (6) 6
transcription factors - genetics (6) 6
abnormalities, multiple - pathology (5) 5
abridged index medicus (5) 5
chromosome (5) 5
contiguous gene deletion syndrome (5) 5
dna copy number variations - genetics (5) 5
dup (5) 5
duplication 17p11.2 (5) 5
exostoses, multiple hereditary - genetics (5) 5
expression (5) 5
facies (5) 5
family (5) 5
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 A, ISSN 1552-4825, 10/2019, Volume 179, Issue 10, pp. 1982 - 1986
Journal Article
Human Mutation, ISSN 1059-7794, 12/2010, Volume 31, Issue 12, pp. 1326 - 1342
Journal Article
European journal of medical genetics, ISSN 1769-7212, 02/2019
Potocki-Shaffer syndrome (PSS) is a rare contiguous gene deletion syndrome caused by heterozygous deletion of 11p11.2p12. Typical features described in... 
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 07/2019, Volume 179, Issue 7, pp. 1366 - 1370
Journal Article
Journal Article
Human Mutation, ISSN 1059-7794, 07/2010, Volume 31, Issue 7, pp. 840 - 850
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2011, Volume 127, Issue 6, pp. 1579 - 1586
Journal Article
Journal Article
Genetics in Medicine, ISSN 1098-3600, 01/2017, Volume 19, Issue 1, pp. 45 - 52
Journal Article