X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (41) 41
index medicus (41) 41
male (31) 31
female (29) 29
genetics & heredity (25) 25
adult (21) 21
pedigree (19) 19
middle aged (18) 18
mutation (16) 16
phenotype (15) 15
adolescent (14) 14
child (13) 13
huntington disease - genetics (12) 12
genetics (11) 11
aged (9) 9
biochemistry & molecular biology (9) 9
child, preschool (9) 9
dna mutational analysis (9) 9
genes (9) 9
heterozygote (9) 9
tuberous sclerosis - genetics (9) 9
tumor suppressor proteins - genetics (9) 9
disease (8) 8
clinical neurology (7) 7
congenital, hereditary, and neonatal diseases and abnormalities (7) 7
gene (7) 7
infant (7) 7
nervous system diseases (7) 7
tsc1 (7) 7
age (6) 6
analysis (6) 6
diagnosis (6) 6
genotype (6) 6
hamartin complex (6) 6
huntington disease - diagnosis (6) 6
identification (6) 6
tuberous sclerosis (6) 6
tuberous sclerosis complex (6) 6
age of onset (5) 5
alleles (5) 5
article (5) 5
gene deletion (5) 5
genetic counseling (5) 5
huntington disease (5) 5
mutations (5) 5
netherlands (5) 5
onset (5) 5
proteins (5) 5
risk (5) 5
tsc2 (5) 5
young adult (5) 5
aged, 80 and over (4) 4
deletion (4) 4
family (4) 4
genetic aspects (4) 4
genetic testing (4) 4
huntington disease - psychology (4) 4
magnetic resonance imaging (4) 4
mtor (4) 4
mutational analysis (4) 4
trinucleotide repeats - genetics (4) 4
tumor suppressor proteins - metabolism (4) 4
abnormalities, multiple - genetics (3) 3
abridged index medicus (3) 3
attitudes (3) 3
binding sites (3) 3
chromosome mapping (3) 3
chromosomes (3) 3
cohort (3) 3
epilepsy (3) 3
exons (3) 3
families & family life (3) 3
family health (3) 3
follow-up studies (3) 3
genetic testing - psychology (3) 3
genomics (3) 3
hamartin (3) 3
haplotypes (3) 3
hereditary diseases (3) 3
huntington's chorea (3) 3
linkage analysis (3) 3
missense mutation (3) 3
missense mutations (3) 3
model (3) 3
models, genetic (3) 3
mutation, missense (3) 3
nerve tissue proteins - genetics (3) 3
nuclear proteins - genetics (3) 3
penetrance (3) 3
phosphorylation (3) 3
polymerase chain reaction (3) 3
predictive value of tests (3) 3
protein (3) 3
psychology, clinical (3) 3
research article (3) 3
risk assessment (3) 3
risk factors (3) 3
sclerosis (3) 3
spinocerebellar ataxia (3) 3
transcription factors - genetics (3) 3
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
Journal Article
B M C Medical Genetics, ISSN 1471-2350, 02/2015, Volume 16, Issue 1
textabstractBackground: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by mutations in and . Conventional DNA diagnostic screens... 
TSC2 | TSC1 | HaloPlex | Next Generation Sequencing | Tuberous sclerosis complex
Journal Article
Movement Disorders, ISSN 0885-3185, 03/2006, Volume 21, Issue 3, pp. 396 - 401
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 02/2015, Volume 23, Issue 2, pp. 224 - 228
Journal Article
In Practice, ISSN 0022-2593, 01/1976, Volume 38, Issue 1, p. 39
The moral aspects of genetic counselling are explored in situations where the outcome of a DNA test does not lead to certain knowledge. The most frequent type... 
Journal Article
Neurogenetics, ISSN 1364-6745, 2011, Volume 12, Issue 4, pp. 263 - 271
Journal Article
British Journal of Ophthalmology: a peer review journal for health professionals and researchers in ophthalmology, ISSN 0007-1161, 05/2013, Volume 97, Issue 5, pp. 583 - 587
textabstractObjectives To identify the phenotype, genetic defect and inheritance pattern of ectopia lentis et pupillae (ELP) in a large Dutch family,... 
Journal Article
British Journal of Ophthalmology, ISSN 0007-1161, 05/2013, Volume 97, Issue 5, pp. 583 - 587
Journal Article