X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (18) 18
index medicus (17) 17
male (13) 13
female (11) 11
genetics & heredity (9) 9
mutation (9) 9
genetic aspects (7) 7
adolescent (6) 6
child, preschool (6) 6
infant (6) 6
pedigree (6) 6
phenotype (6) 6
child (5) 5
gene mutations (5) 5
genes (4) 4
genetics (4) 4
genotype (4) 4
intellectual disability - genetics (4) 4
patients (4) 4
phenotypes (4) 4
abnormalities, multiple - genetics (3) 3
adult (3) 3
analysis (3) 3
cataract (3) 3
chromosome deletion (3) 3
clinical neurology (3) 3
comparative genomic hybridization (3) 3
dna mutational analysis (3) 3
exons (3) 3
exons - genetics (3) 3
genetic predisposition to disease - genetics (3) 3
homozygote (3) 3
middle aged (3) 3
research (3) 3
science (3) 3
young adult (3) 3
adamts proteins (2) 2
adaptor proteins, signal transducing - genetics (2) 2
age of onset (2) 2
array cgh (2) 2
base sequence (2) 2
cancer (2) 2
chromosome aberrations (2) 2
data processing (2) 2
defects (2) 2
disease (2) 2
dwarfism - genetics (2) 2
dysplasia (2) 2
ectopia lentis - genetics (2) 2
facies (2) 2
fatal outcome (2) 2
filamin-a (2) 2
gene (2) 2
genetic analysis (2) 2
genome (2) 2
genomes (2) 2
genotype & phenotype (2) 2
germ-line mutation (2) 2
health aspects (2) 2
heterozygote (2) 2
infant, newborn (2) 2
mental-retardation (2) 2
microencephaly (2) 2
missense mutation (2) 2
multidisciplinary sciences (2) 2
mutation - genetics (2) 2
mutation, missense - genetics (2) 2
mutations (2) 2
myopia (2) 2
neurology (2) 2
neurosciences (2) 2
oncology (2) 2
pediatrics (2) 2
polymorphism, single nucleotide (2) 2
protein binding (2) 2
seizures (2) 2
sequence analysis, dna (2) 2
signal transduction - genetics (2) 2
tab2 (2) 2
thrombocytopenia (2) 2
thrombospondins - genetics (2) 2
5p microduplication (1) 1
abnormalities (1) 1
abnormalities, multiple - diagnostic imaging (1) 1
abnormalities, multiple - therapy (1) 1
acids (1) 1
actin (1) 1
actins - genetics (1) 1
actins - metabolism (1) 1
activating kit mutation (1) 1
activation (1) 1
adamtsl4 (1) 1
adamtsl4 mutations (1) 1
adaptor proteins, signal transducing - metabolism (1) 1
adaptor proteins, signal transducing/genetics; adaptor proteins, signal transducing/metabolism; female; filamins/genetics; forehead/abnormalities; humans; map kinase kinase kinases/genetics; map kinase kinase kinases/metabolism; map kinase signaling system/genetics; male; mutation/genetics; nf-kappa b/metabolism; osteochondrodysplasias/genetics; osteochondrodysplasias/metabolism; phosphorylation; protein binding; protein multimerization; signal transduction/genetics (1) 1
aging (1) 1
aging, premature - genetics (1) 1
alleles (1) 1
alpha7 nicotinic acetylcholine receptor (1) 1
animal development (1) 1
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Deutsches Arzteblatt International, ISSN 1866-0452, 10/2013, Volume 110, Issue 40, p. A1864
Journal Article
Nature communications, ISSN 2041-1723, 12/2018, Volume 9, Issue 1, pp. 4250 - 4250
Journal Article
Nature Genetics, ISSN 1061-4036, 11/2013, Volume 45, Issue 11, pp. 1300 - 1310
Journal Article
PLoS ONE, ISSN 1932-6203, 11/2013, Volume 8, Issue 11, pp. e78496 - e78496
Journal Article
Nature communications, ISSN 2041-1723, 11/2018, Volume 9, Issue 1, pp. 4930 - 1
The original version of this Article contained an error in Figure 4. In panel i, the lower CYA and α-SMA images were inadvertently inverted. This has been... 
Thrombocytopenia | Exons
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 06/2016, Volume 53, Issue 6, pp. 419 - 425
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 08/2016, Volume 99, Issue 2, pp. 392 - 406
Journal Article
Journal Article
medizinische genetik, ISSN 0936-5931, 12/2017, Volume 29, Issue 3, pp. 276 - 282
Die klinische Diagnose erblicher Tumorsyndrome ist ein wesentlicher Bestandteil der humangenetischen Beratung. Bei seltenen Syndromen, die mit einem breiten... 
Gynecology | Oncology | Li–Fraumeni syndrome | Medicine/Public Health, general | Carney complex | Peutz-Jeghers-Syndrom | Cowden syndrome | Cowden-Syndrom | Carney-Komplex | Li-Fraumeni-Syndrom | Medicine & Public Health | Peutz–Jeghers syndrome | Reproductive Medicine | Juvenile Polyposis | Juvenile polyposis | Polyposis
Journal Article
Klinische Monatsblatter fur Augenheilkunde, ISSN 0023-2165, 2015, Volume 232, Issue 3, pp. 259 - 265
Journal Article
Neuropediatrics, ISSN 0174-304X, 08/2013, Volume 44, Issue 4, pp. 225 - 229
Abstract Background  There are only few reports on patients with duplications of the short arm of chromosome 5, with little information about concomitant... 
Short Communication | seizures | 5p microduplication | array CGH | nonlesional epilepsy | CORNELIA | TRISOMY | KINASE | PEDIATRICS | LANGE | CLINICAL NEUROLOGY | CRITICAL REGION
Journal Article
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 02/2011, Volume 52, Issue 2, pp. 695 - 700
Journal Article
Journal Article