X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (27) 27
humans (24) 24
female (17) 17
genetics & heredity (16) 16
male (16) 16
mutation (14) 14
adult (13) 13
phenotype (11) 11
child (10) 10
genes (9) 9
genetic aspects (9) 9
mutations (7) 7
oncology (7) 7
pedigree (7) 7
analysis (6) 6
genetic disorders (6) 6
adolescent (5) 5
gene (5) 5
gene deletion (5) 5
medical genetics (5) 5
middle aged (5) 5
p53 mutations (5) 5
abridged index medicus (4) 4
autism (4) 4
breast-cancer (4) 4
cancer (4) 4
child, preschool (4) 4
chromosome deletion (4) 4
expression (4) 4
genetics (4) 4
infant (4) 4
li-fraumeni syndrome (4) 4
li-fraumeni syndrome - genetics (4) 4
patients (4) 4
polymerase chain reaction (4) 4
polymorphism, single nucleotide (4) 4
tp53 gene (4) 4
tumors (4) 4
age (3) 3
age of onset (3) 3
aged (3) 3
cataract (3) 3
chromosome breakage (3) 3
clonal deletion (3) 3
copy number (3) 3
copy number variation (3) 3
czech republic (3) 3
deafness (3) 3
disease (3) 3
dna microarrays (3) 3
gene expression (3) 3
genomes (3) 3
homozygote (3) 3
intellectual disability (3) 3
life sciences (3) 3
pediatrics (3) 3
single-nucleotide polymorphism (3) 3
snp array (3) 3
studies (3) 3
tumor suppressor protein p53 - genetics (3) 3
ultrasonography, prenatal (3) 3
2p14-p15 deletion (2) 2
2p15-p16.1 microdeletion syndrome (2) 2
abnormalities (2) 2
abnormalities, multiple - genetics (2) 2
aged, 80 and over (2) 2
aneuploidy (2) 2
animal anatomy / morphology / histology (2) 2
animal biochemistry (2) 2
anticipation (2) 2
article (2) 2
attention deficit disorder (2) 2
biochemistry & molecular biology (2) 2
carcinoma (2) 2
cataract - congenital (2) 2
cataract - genetics (2) 2
cataracts (2) 2
cells (2) 2
chromosomes, human, pair 7 (2) 2
chromosomes, human, pair 9 (2) 2
classification (2) 2
clinical neurology (2) 2
database (2) 2
deoxyribonucleic acid--dna (2) 2
developmental delay (2) 2
diagnosis (2) 2
disease progression (2) 2
disomy (2) 2
dna copy number variations (2) 2
duplication (2) 2
exons (2) 2
facies (2) 2
founder effect (2) 2
genes, p53 (2) 2
genes, p53 - genetics (2) 2
genes, recessive (2) 2
genetic carrier screening (2) 2
genetic counseling (2) 2
genetic research (2) 2
genomics (2) 2
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Journal Article
Journal of Human Genetics, ISSN 1434-5161, 07/2018, Volume 63, Issue 7, pp. 803 - 810
Approximately 20 cases of genome-wide uniparental disomy or diploidy (GWUPD) as mosaicism have previously been reported. We present the case of an 11-year-old... 
CHIMERISM | CELLS | ISODISOMY | DISEASE | GENETICS & HEREDITY | DISOMY | PHENOTYPE | MECHANISMS | BECKWITH-WIEDEMANN SYNDROME | MOSAICISM
Journal Article
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 07/2016, Volume 170, Issue 7, pp. 1843 - 1848
Journal Article
Gene, ISSN 0378-1119, 03/2013, Volume 516, Issue 1, pp. 158 - 161
Microdeletions spanning 2p14–p15 have recently been described in two patients with developmental and speech delay and intellectual disability but no congenital... 
2p15–p16.1 microdeletion syndrome | Copy number variation | Intellectual disability | SNP array | 2p14–p15 deletion | Developmental delay | 2p14-p15 deletion | 2p15-p16.1 microdeletion syndrome | Mental illness | Genes
Journal Article
Journal Article