X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (272) 272
Publication (17) 17
Book Review (10) 10
Book Chapter (2) 2
Book / eBook (1) 1
Conference Proceeding (1) 1
Reference (1) 1
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (185) 185
index medicus (179) 179
male (127) 127
female (117) 117
child (96) 96
clinical neurology (85) 85
adolescent (74) 74
child, preschool (64) 64
pediatrics (58) 58
mutation (56) 56
infant (48) 48
neurosciences (46) 46
genetics & heredity (45) 45
pedigree (43) 43
muscular dystrophies - genetics (41) 41
adult (40) 40
gene (35) 35
phenotype (34) 34
muscular dystrophy (30) 30
genetic aspects (29) 29
magnetic resonance imaging (29) 29
disease (27) 27
genetics (26) 26
abridged index medicus (24) 24
mutations (24) 24
neurology (22) 22
turkey (21) 21
dna mutational analysis (20) 20
muscle, skeletal - pathology (20) 20
muscular dystrophies - congenital (20) 20
research (20) 20
article (18) 18
congenital muscular dystrophy (18) 18
consanguinity (18) 18
muscular dystrophies - pathology (18) 18
chromosome mapping (17) 17
expression (16) 16
glycosylation (16) 16
alpha-dystroglycan (15) 15
animals (15) 15
duchenne muscular dystrophy (15) 15
genes, recessive (15) 15
genetic disorders (15) 15
homozygote (15) 15
young adult (15) 15
amino acid sequence (14) 14
deficiency (14) 14
diagnosis (14) 14
gene mutations (14) 14
genes (14) 14
muscular dystrophies - metabolism (14) 14
spinal muscular atrophy (14) 14
molecular sequence data (13) 13
muscle (13) 13
biopsy (12) 12
children (12) 12
genetic research (12) 12
genotype (12) 12
health aspects (12) 12
immunohistochemistry (12) 12
mutation - genetics (12) 12
polymerase chain reaction (12) 12
risk factors (12) 12
analysis (11) 11
biochemistry & molecular biology (11) 11
diagnosis, differential (11) 11
follow-up studies (11) 11
genetic linkage (11) 11
haplotypes (11) 11
localization (11) 11
proteins (11) 11
syndrome (11) 11
walker-warburg-syndrome (11) 11
care and treatment (10) 10
deletion (10) 10
disorders (10) 10
gene deletion (10) 10
human genetics (10) 10
infant, newborn (10) 10
intellectual disability - genetics (10) 10
laminin (10) 10
mental-retardation (10) 10
mice (10) 10
muscle, skeletal - metabolism (10) 10
muscular dystrophies - diagnosis (10) 10
mutation, missense (10) 10
age of onset (9) 9
base sequence (9) 9
brain (9) 9
congenital muscular-dystrophy (9) 9
dystrophin (9) 9
merosin (9) 9
middle aged (9) 9
muscular dystrophies - physiopathology (9) 9
myopathy (9) 9
physiological aspects (9) 9
prenatal diagnosis (9) 9
retrospective studies (9) 9
degeneration (8) 8
dystrophin - genetics (8) 8
more...
Library Location Library Location
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Human Mutation, ISSN 1059-7794, 11/2013, Volume 34, Issue 11, pp. 1449 - 1457
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 04/2019, Volume 29, Issue 4, pp. 341 - 341
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 02/2019, Volume 29, Issue 2, pp. 152 - 156
Journal Article
Human Mutation, ISSN 1059-7794, 04/2015, Volume 36, Issue 4, pp. 395 - 402
Journal Article
Neuromuscular disorders : NMD, 11/2018
Journal Article
Lancet Neurology, The, ISSN 1474-4422, 2014, Volume 13, Issue 10, pp. 987 - 996
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 03/2011, Volume 364, Issue 10, pp. 939 - 946
A dystroglycan mutation was identified in a patient with limb-girdle muscular dystrophy and cognitive dysfunction. A mouse model with this mutation reproduced... 
Phenotype | Animals | Muscular Dystrophies, Limb-Girdle - genetics | Pedigree | Humans | Dystroglycans - genetics | Female | Mice | Mutation, Missense | Sequence Analysis, DNA | Disease Models, Animal | Index Medicus | Abridged Index Medicus
Journal Article
Journal Article
Nature Genetics, ISSN 1061-4036, 10/2012, Volume 44, Issue 10, pp. 1080 - 1083
Journal Article
Acta Myologica, ISSN 1128-2460, 2013, Volume 32, Issue 3, pp. 138 - 141
The Mediterranean countries are distinguished with their peculiar genetic pool and diversities. Recessive diseases often present with their own founder... 
Mediterranean area | Frequency | Muscular dystrophies | Incidence | Muscular Dystrophies - epidemiology | Humans | Risk Factors | Age of Onset | Female | Male | Consanguinity | Mediterranean Region | Mutation | Muscular Dystrophies - genetics | Index Medicus | muscular dystrophies | Original | incidence
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 11/2017, Volume 377, Issue 18, pp. 1723 - 1732
Journal Article