X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (12) 12
female (11) 11
male (10) 10
index medicus (9) 9
genetics & heredity (8) 8
infant (8) 8
child (7) 7
child, preschool (6) 6
pediatrics (6) 6
adolescent (5) 5
adult (5) 5
mutation (5) 5
creatine (4) 4
life sciences (4) 4
metabolism (4) 4
physics (4) 4
analysis (3) 3
brain (3) 3
clinical neurology (3) 3
creatine - deficiency (3) 3
diagnosis (3) 3
dna mutational analysis (3) 3
genetic aspects (3) 3
genetics (3) 3
guanidinoacetate (3) 3
medicine, research & experimental (3) 3
mental-retardation (3) 3
optics (3) 3
phenotype (3) 3
physics - optics (3) 3
retrospective studies (3) 3
young adult (3) 3
account (2) 2
brain - pathology (2) 2
brain diseases, metabolic, inborn - genetics (2) 2
causes of (2) 2
central-nervous-system (2) 2
clinical characteristics (2) 2
cohort studies (2) 2
creatine - genetics (2) 2
creatine - metabolism (2) 2
creatine - urine (2) 2
deoxyribonucleic acid--dna (2) 2
endocrinology & metabolism (2) 2
enzymes (2) 2
erratum (2) 2
features (2) 2
gamt (2) 2
genes (2) 2
genetic disorders (2) 2
genetic testing (2) 2
genotype (2) 2
glycine - analogs & derivatives (2) 2
glycine - urine (2) 2
guanidinoacetate n-methyltransferase - deficiency (2) 2
guanidinoacetate n-methyltransferase - genetics (2) 2
health aspects (2) 2
hypoglycémie (2) 2
inborn error (2) 2
magnetic resonance imaging (2) 2
maladies métaboliques (2) 2
malaise grave (2) 2
mcad (2) 2
membrane transport proteins - genetics (2) 2
middle aged (2) 2
movement disorders - congenital (2) 2
nerve tissue proteins - genetics (2) 2
neurology (2) 2
patients (2) 2
physics, condensed matter (2) 2
physiological aspects (2) 2
plasma membrane neurotransmitter transport proteins - genetics (2) 2
polymerase chain reaction (2) 2
research (2) 2
sex factors (2) 2
transferases (2) 2
treatment outcome (2) 2
1-alkyl-2-acetylglycerophosphocholine esterase - genetics (1) 1
[ phys.phys.phys-optics ] physics [physics]/physics [physics]/optics [physics.optics] (1) 1
[ scco.neur ] cognitive science/neuroscience (1) 1
[ sdv ] life sciences [q-bio] (1) 1
[ sdv.gen ] life sciences [q-bio]/genetics (1) 1
[phys.phys.phys-optics]physics [physics]/physics [physics]/optics [physics.optics] (1) 1
[scco.neur]cognitive science/neuroscience (1) 1
[sdv.gen.gh]life sciences [q-bio]/genetics/human genetics (1) 1
[sdv.gen]life sciences [q-bio]/genetics (1) 1
[sdv.neu]life sciences [q-bio]/neurons and cognition [q-bio.nc] (1) 1
abacavir (1) 1
abnormalities, multiple - genetics (1) 1
abnormalities, multiple - pathology (1) 1
abridged index medicus (1) 1
acetyl-coa transporter (1) 1
acoustics (1) 1
acyl-coa dehydrogenase - deficiency (1) 1
age (1) 1
age factors (1) 1
aged (1) 1
aged, 80 and over (1) 1
aids dementia complex - drug therapy (1) 1
amidinotransferases - genetics (1) 1
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Journal of Medical Genetics, ISSN 0022-2593, 07/2013, Volume 50, Issue 7, pp. 463 - 472
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 01/2012, Volume 90, Issue 1, pp. 61 - 68
Journal Article
Orphanet journal of rare diseases, ISSN 1750-1172, 2012, Volume 7, Issue 1, pp. 96 - 96
Journal Article
Human Mutation, ISSN 1059-7794, 2014, Volume 35, Issue 4, pp. 462 - 469
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 11/2013, Volume 110, Issue 3, pp. 263 - 267
Journal Article
Neurology, ISSN 0028-3878, 11/2006, Volume 67, Issue 9, pp. 1713 - 1714
Journal Article
European Journal of Paediatric Neurology, ISSN 1090-3798, 2015, Volume 19, pp. S130 - S130
Oligophrenin-1 (OPHN1) encodes a Rho GTPase-activating protein (RhoGAP) whose loss of function is associated with a rare X-linked intellectual disability... 
Pediatrics | Neurology | Cytogenetics | Analysis
Journal Article
European Journal of Paediatric Neurology, ISSN 1090-3798, 05/2018, Volume 22, Issue 3, pp. 369 - 379
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 11/2012, Volume 107, Issue 3, pp. 438 - 447
Journal Article
Archives de pédiatrie, ISSN 0929-693X, 07/2018, Volume 25, Issue 5, pp. 340 - 343
Botulism is an uncommon severe neuromuscular disorder. We report two recent cases of confirmed infant botulism diagnosed in an 11-week and a 5-month-old infant... 
Infant | Electromyography | Botulism | Botulinum toxin | PEDIATRICS
Journal Article
European Journal of Paediatric Neurology, ISSN 1090-3798, 2013, Volume 17, pp. S129 - S129
Journal Article
Orphanet journal of rare diseases, ISSN 1750-1172, 2012, Volume 7
A population of patients with unexplained neurological symptoms from six major French university hospitals was screened over a 28-month period for primary... 
Journal Article
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 2013, Volume 50, Issue 7, pp. 463 - 472
Background: Creatine transporter deficiency is a monogenic cause of X-linked intellectual disability. Since its first description in 2001 several case reports... 
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 2013, Volume 50, pp. 463 - 472
BACKGROUND: Creatine transporter deficiency is a monogenic cause of X-linked intellectual disability. Since its first description in 2001 several case reports... 
Journal Article