X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (218) 218
Publication (63) 63
Patent (26) 26
Book / eBook (11) 11
Book Chapter (5) 5
Conference Proceeding (4) 4
Book Review (1) 1
Magazine Article (1) 1
Streaming Audio (1) 1
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (88) 88
male (73) 73
female (65) 65
index medicus (63) 63
life sciences (60) 60
child (47) 47
clinical neurology (41) 41
child, preschool (36) 36
adolescent (34) 34
mutation (32) 32
adult (28) 28
chemistry (26) 26
genetics & heredity (26) 26
metallurgy (26) 26
animals (25) 25
organic chemistry (25) 25
neurosciences (22) 22
pediatrics (22) 22
gene (21) 21
infant (20) 20
peptides (20) 20
analysis (18) 18
genetics (18) 18
[sdv]life sciences [q-bio] (17) 17
utrophin (17) 17
biochemistry & molecular biology (16) 16
human necessities (16) 16
hygiene (16) 16
medical or veterinary science (16) 16
middle aged (16) 16
preparations for medical, dental, or toilet purposes (16) 16
general tagging of cross-sectional technologies spanning over several sections of the ipc (15) 15
general tagging of new technological developments (15) 15
phenotype (15) 15
technical subjects covered by former uspc (15) 15
technical subjects covered by former uspc cross-reference art collections [xracs] and digests (15) 15
technical subjects covered by former uspc cross-reference artcollections [xracs] and digests (15) 15
dystrophin (14) 14
epilepsy (14) 14
human health and pathology (14) 14
proteins (14) 14
dystrophin - metabolism (13) 13
[ sdv ] life sciences [q-bio] (12) 12
cell biology (11) 11
children (11) 11
follow-up studies (11) 11
france (11) 11
mice (11) 11
musculoskeletal diseases (11) 11
skeletal-muscle (11) 11
young adult (11) 11
magnetic resonance imaging (10) 10
mutations (10) 10
pedigree (10) 10
age (9) 9
aged (9) 9
article (9) 9
blotting, western (9) 9
duchenne muscular dystrophy (9) 9
expression (9) 9
genes (9) 9
genetic aspects (9) 9
localization (9) 9
muscular-dystrophy (9) 9
neurology (9) 9
protein (9) 9
research (9) 9
abridged index medicus (8) 8
congenital, hereditary, and neonatal diseases and abnormalities (8) 8
dystroglycans (8) 8
dystrophin - genetics (8) 8
fuels (8) 8
heterocyclic compounds (8) 8
indexing scheme associated with subclass c10m relating to lubricatingcompositions (8) 8
lubricants (8) 8
lubricating compositions (8) 8
muscular dystrophy, duchenne - genetics (8) 8
patients (8) 8
peat (8) 8
petroleum, gas or coke industries (8) 8
retrospective studies (8) 8
technical gases containing carbon monoxide (8) 8
use of chemical substances either alone or as lubricatingingredients in a lubricating composition (8) 8
[ sdv.gen ] life sciences [q-bio]/genetics (7) 7
brain (7) 7
diagnosis (7) 7
encephalopathy (7) 7
human genetics (7) 7
identification (7) 7
immunohistochemistry (7) 7
intellectual disability - genetics (7) 7
mice, inbred mdx (7) 7
molecular sequence data (7) 7
muscular dystrophy, duchenne - physiopathology (7) 7
musculoskeletal system (7) 7
[ sdv.mhep ] life sciences [q-bio]/human health and pathology (6) 6
age of onset (6) 6
aged, 80 and over (6) 6
amino acid sequence (6) 6
brain - pathology (6) 6
more...
Library Location Library Location
Language Language
Language Language
X
Sort by Item Count (A-Z)
Filter by Count
English (214) 214
French (48) 48
German (3) 3
Finnish (2) 2
Russian (2) 2
Latin (1) 1
Norwegian (1) 1
Spanish (1) 1
more...
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Orphanet Journal of Rare Diseases, ISSN 1750-1172, 2012, Volume 7, Issue 1, pp. 96 - 96
Journal Article
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 11/2013, Volume 110, Issue 3, pp. 263 - 267
Journal Article
Revista Geológica de América Central, ISSN 0256-7024, 11/2014, Issue 5
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 05/2018, Volume 102, Issue 5, pp. 744 - 759
Journal Article
Developmental Medicine & Child Neurology, ISSN 0012-1622, 11/2019, Volume 61, Issue 11, pp. 1348 - 1348
This article is commented on by Ventevogel and Melville on pages 1247–1248 of this issue. 
Life Sciences
Journal Article
EUROPEAN JOURNAL OF HUMAN GENETICS, ISSN 1018-4813, 11/2019, Volume 27, Issue 11, pp. 1692 - 1700
Early infantile epileptic encephalopathy (EIEE) is a heterogeneous group of severe forms of age-related developmental and epileptic encephalopathies with onset... 
GLUTAMATE CARRIER SLC25A22 | ENCEPHALOPATHY | TRANSPORTER | GENE | RAT | MITOCHONDRIAL | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | MUTATIONS | IDENTIFICATION | EXPRESSION | ASTROCYTES | Phenotypes | Prognosis | EEG | Epilepsy | Mental retardation | Literature reviews | Genotype & phenotype | Encephalopathy | Fibroblasts | Transmembrane domains | Skin | Oxidation | Age | Genotypes | Seizures | Life Sciences
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 2013, Volume 8, Issue 1, pp. 70 - 70
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 02/2014, Volume 22, Issue 2, pp. 289 - 292
Journal Article
Revista Geológica de América Central, ISSN 0256-7024, 06/2011, Issue 9
Journal Article
Journal Article
Revista Geológica de América Central, ISSN 0256-7024, 06/2011, Issue 2
Journal Article
The European Physical Journal E, ISSN 1292-8941, 1/2016, Volume 39, Issue 1, pp. 1 - 11
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 2016, Volume 26, Issue 12, pp. 895 - 929
Journal Article