X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (33) 33
child (20) 20
male (20) 20
female (19) 19
child, preschool (17) 17
index medicus (16) 16
adolescent (15) 15
pediatrics (13) 13
infant (12) 12
mutation (12) 12
clinical neurology (10) 10
adult (9) 9
phenotype (9) 9
genetic aspects (8) 8
genetics & heredity (8) 8
genetics (7) 7
infant, newborn (7) 7
children (6) 6
neurosciences (6) 6
analysis (5) 5
article (5) 5
genotype (5) 5
systemic-lupus-erythematosus (5) 5
young adult (5) 5
adenosine deaminase - genetics (4) 4
age (4) 4
animals (4) 4
autoimmune diseases of the nervous system - genetics (4) 4
diagnosis (4) 4
interferon (4) 4
medical research (4) 4
mutation - genetics (4) 4
mutations (4) 4
nervous system malformations - genetics (4) 4
neurology (4) 4
phenotypes (4) 4
proteins (4) 4
vitamin a - metabolism (4) 4
acyltransferases - metabolism (3) 3
adenosine deaminase (3) 3
aicardi-goutieres syndrome (3) 3
basal ganglia (3) 3
biochemistry, general (3) 3
cardiac & cardiovascular systems (3) 3
care and treatment (3) 3
disease (3) 3
exodeoxyribonucleases - genetics (3) 3
follow-up studies (3) 3
gene (3) 3
genes (3) 3
genetic screening (3) 3
human genetics (3) 3
interferon-alpha (3) 3
internal medicine (3) 3
liver - metabolism (3) 3
medicine & public health (3) 3
metabolic diseases (3) 3
monomeric gtp-binding proteins - genetics (3) 3
muscular dystrophy (3) 3
norway - epidemiology (3) 3
patients (3) 3
phosphoproteins - genetics (3) 3
prognosis (3) 3
rats (3) 3
research (3) 3
retinol o-fatty-acyltransferase (3) 3
retrospective studies (3) 3
ribonuclease h - genetics (3) 3
rna-binding proteins (3) 3
sam domain and hd domain-containing protein 1 (3) 3
abridged index medicus (2) 2
aicardi syndrome (2) 2
aicardi-goutières syndrome (2) 2
aicardi–goutières syndrome (2) 2
alpha-dystroglycan (2) 2
anemia (2) 2
ataxia (2) 2
ataxia - physiopathology (2) 2
autoimmune diseases of the nervous system (2) 2
basal ganglia diseases - pathology (2) 2
bilateral striatal necrosis (2) 2
biological response modifiers (2) 2
biomarkers (2) 2
biomarkers - metabolism (2) 2
brain - pathology (2) 2
case report (2) 2
children & youth (2) 2
classification-system (2) 2
congenital infection (2) 2
dna mutational analysis (2) 2
dna, mitochondrial - genetics (2) 2
duchenne's muscular dystrophy (2) 2
dyschromatosis symmetrica hereditaria (2) 2
electroencephalography (2) 2
encephalopathy (2) 2
endocrinology & metabolism (2) 2
enzymes (2) 2
exodeoxyribonucleases (2) 2
expression (2) 2
fatal outcome (2) 2
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


Lancet Neurology, The, ISSN 1474-4422, 2013, Volume 12, Issue 12, pp. 1159 - 1169
Journal Article
Nature Genetics, ISSN 1061-4036, 11/2012, Volume 44, Issue 11, pp. 1243 - 1248
Journal Article
Nature Genetics, ISSN 1061-4036, 07/2009, Volume 41, Issue 7, pp. 829 - U89
Journal Article
by Crow, Y.J and Chase, D.S and Schmidt, J.L and Szynkiewicz, M and Forte, G.M.A and Gornall, H.L and Oojageer, A and Anderson, B and Pizzino, A and Helman, G and Abdel-Hamid, M.S and Abdel-Salam, G.M and Ackroyd, S and Aeby, A and Agosta, G and Albin, C and Allon-Shalev, S and Arellano, M and Ariaudo, G and Aswani, V and Babul-Hirji, R and Baildam, E.M and Bahi-Buisson, N and Bailey, K.M and Barnerias, C and Barth, M and Battini, R and Beresford, M.W and Bernard, G and Bianchi, M and de Villemeur, T.B and Blair, E.M and Bloom, M and Burlina, A.B and Carpanelli, M.L and Carvalho, D.R and Castro-Gago, M and Cavallini, A and Cereda, C and Chandler, K.E and Chitayat, D.A and Collins, A.E and Corcoles, C.S and Cordeiro, N.J.V and Crichiutti, G and Dabydeen, L and Dale, R.C and D'Arrigo, S and De Goede, C.G.E.L and de Laet, C and De Waele, L.M.H and Denzler, I and Desguerre, I and Devriendt, K and Di Rocco, M and Fahey, M.C and Fazzi, E and Ferrie, C.D and Figueiredo, A and Gener, B and Goizet, C and Gowrinathan, N.R and Gowrishankar, K and Hanrahan, D and Isidor, B and Kara, L and Khan, N and King, M.D and Kirk, E.P and Kumar, R and Lagae, L and Lanieu, P and Lauffer, H and Laugel, V and La Piana, R and Lim, M.J and Lin, J.P.S.M and Linnankivi, T and Mackay, M.T and Marom, D.R and Lourenco, C.M and McKee, S.A and Moroni, I and Morton, J.E.V and Moutard, M.L and Murray, K and Nabbout, R and Nampoothiri, S and Nunez-Enamorado, N and Oades, P.J and Olivieri, I and Ostergaard, J.R and Perez-Duenas, B and Prendiville, J.S and Ramesh, V and Rasmussen, M and Regal, L and Ricci, F and Rio, M and Knaap, M and ...
American Journal of Medical Genetics Part A, ISSN 1552-4825, 2015, Volume 167, Issue 2, pp. 296 - 312
Journal Article
Journal of neuromuscular diseases, ISSN 2214-3599, 07/2019, Volume 6, Issue 3, p. 349
As new gene-related treatment options for Duchenne muscular dystrophy (DMD) are being developed, precise information about the patients' genetic diagnosis and... 
Heart | Phenotypes | Glucocorticoids | Patients | Muscular dystrophy | Genetic screening | Duchenne's muscular dystrophy | Genetic analysis | Ventilation | Mutation | Dystrophy | Ventricle | Diagnosis | Age | Genotypes
Journal Article
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 1/2018, Volume 41, Issue 1, pp. 153 - 153
To access, purchase, authenticate, or subscribe to the full-text of this article, please visit this link: http://dx.doi.org/10.1007/s10545-017-0092-9 
Human Genetics | Biochemistry, general | Pediatrics | Internal Medicine | Medicine & Public Health | Metabolic Diseases | Care and treatment | Neurosciences | Genetic disorders | Anemia | Patient outcomes
Journal Article
Tidsskrift for den Norske Laegeforening, ISSN 0029-2001, 09/2018, Volume 138, Issue 14
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 3/2016, Volume 39, Issue 2, pp. 243 - 252
Journal Article
Journal Article
Journal of Pediatric Neurology, ISSN 1304-2580, 06/2012, Volume 10, Issue 2, pp. 095 - 100
Abstract To describe the group of patients under the age of 18 who have neuromuscular disorders and are from a region with 1.65 million inhabitants in... 
children | South-Eastern Norway | Neuromuscular disorders | Proteins | Mutation | Muscular system | Muscular dystrophy | Children & youth
Journal Article