X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (5) 5
index medicus (5) 5
medical and health sciences (4) 4
medicin och hälsovetenskap (4) 4
adult (3) 3
female (3) 3
male (3) 3
medicin (3) 3
medicine (3) 3
middle aged (3) 3
dna mutational analysis (2) 2
genetics & heredity (2) 2
mutation (2) 2
mutation - genetics (2) 2
osteochondrodysplasias - diagnosis (2) 2
osteochondrodysplasias - genetics (2) 2
pedigree (2) 2
sweden (2) 2
abnormalities, multiple - genetics (1) 1
adolescent (1) 1
age factors (1) 1
aged (1) 1
aged, 80 and over (1) 1
alternative splicing (1) 1
amino acid sequence (1) 1
anti-bacterial agents - pharmacology (1) 1
ataxia (1) 1
base sequence (1) 1
biologi (1) 1
biological sciences (1) 1
biologiska vetenskaper (1) 1
biology (1) 1
cellular stress (1) 1
cerebellar ataxia (1) 1
cerebellar hypoplasia (1) 1
cerebellum - abnormalities (1) 1
chain (1) 1
child (1) 1
child, preschool (1) 1
chromosome 2p13 (1) 1
clinical medicine (1) 1
clinical neurology (1) 1
col9a2 gene (1) 1
collagen type ix - genetics (1) 1
collagen-ix (1) 1
comp (1) 1
congenital ataxia (1) 1
congenital disorder of glycosylation (1) 1
corpus callosum (1) 1
corpus callosum - pathology (1) 1
distal myopathies - genetics (1) 1
distal myopathies - metabolism (1) 1
dna mutational analysis - methods (1) 1
drug resistance, bacterial - genetics (1) 1
dtdst mutation (1) 1
dysequilibrium syndrome (1) 1
edm2 (1) 1
elander distal myopathy (1) 1
escherichia coli k12 - drug effects (1) 1
escherichia coli k12 - genetics (1) 1
escherichia coli k12 - growth & development (1) 1
escherichia coli proteins - genetics (1) 1
evolution, molecular (1) 1
exome (1) 1
exons (1) 1
families (1) 1
family (1) 1
fluoroquinolones - pharmacology (1) 1
founder effect (1) 1
founder mutation (1) 1
g3bp (1) 1
gene expression (1) 1
gene mutations (1) 1
genetic aspects (1) 1
genetic disorders (1) 1
genetic linkage (1) 1
genetic predisposition to disease (1) 1
genetic-heterogeneity (1) 1
genetic-linkage (1) 1
genotype (1) 1
glycosylation (1) 1
granules (1) 1
haplotypes (1) 1
hereditary spastic paraplegia (1) 1
human-brain (1) 1
inclusion-body myositis (1) 1
indexing in process (1) 1
intellectual disability - blood (1) 1
intellectual disability - diagnosis (1) 1
intellectual disability - genetics (1) 1
kjellin syndrome (1) 1
klinisk medicin (1) 1
lipoprotein receptor gene (1) 1
localization (1) 1
locus (1) 1
magnetic resonance imaging (1) 1
magnetic resonance imaging - methods (1) 1
mechanisms of resistance (1) 1
mental illness (1) 1
mental impairment (1) 1
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 B: Neuropsychiatric Genetics, ISSN 1552-4841, 10/2009, Volume 150, Issue 7, pp. 984 - 992
Journal Article
Acta Orthopaedica, ISSN 1745-3674, 12/2009, Volume 80, Issue 6, pp. 711 - 715
Background Multiple epiphyseal dysplasia (MED) is a common genetically and clinically heterogeneous skeletal dysplasia characterized by early-onset... 
CHAIN | COMP | EDM2 | DTDST MUTATION | PHENOTYPE | ORTHOPEDICS | COLLAGEN-IX | MILD MYOPATHY | COL9A2 GENE | Medical and Health Sciences | MEDICINE | Medicin och hälsovetenskap | MEDICIN
Journal Article
Acta Orthopaedica, ISSN 1745-3674, 12/2009, Volume 80, Issue 6, pp. 711 - 715
Journal Article
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, ISSN 1552-4841, 10/2009, Volume 150B, Issue 7, pp. 984 - 992
Journal Article
Acta Neurologica Scandinavica, ISSN 0001-6314, 01/2011, Volume 123, Issue 1, pp. 28 - 33
Journal Article
Human Mutation, ISSN 1059-7794, 04/2013, Volume 34, Issue 4, pp. 572 - 577
Journal Article
No results were found for your search.

Cannot display more than 1000 results, please narrow the terms of your search.