X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (60) 60
humans (55) 55
genetics & heredity (39) 39
male (31) 31
female (29) 29
mutation (24) 24
infant (22) 22
child (20) 20
phenotype (19) 19
child, preschool (18) 18
medicine, research & experimental (16) 16
mutations (16) 16
adolescent (15) 15
genetic aspects (15) 15
mitochondrial diseases (14) 14
diagnosis (13) 13
genes (13) 13
nitric oxide (13) 13
pediatrics (13) 13
adult (12) 12
endocrinology & metabolism (12) 12
gene (12) 12
mitochondrial dna (12) 12
clinical neurology (11) 11
disease (11) 11
medical colleges (11) 11
medical genetics (11) 11
genetics (10) 10
infant, newborn (10) 10
metabolism (10) 10
stroke-like episodes (10) 10
disorders (9) 9
encephalopathy (9) 9
enzymes (9) 9
health aspects (9) 9
intellectual disability (9) 9
arginine (8) 8
article (8) 8
lactic acidosis (8) 8
pedigree (8) 8
developmental disabilities - genetics (7) 7
lactic-acidosis (7) 7
medical research (7) 7
medicine (7) 7
medicine, experimental (7) 7
mitochondria - metabolism (7) 7
mitochondrial myopathy (7) 7
mutation - genetics (7) 7
proteins (7) 7
care and treatment (6) 6
citrulline (6) 6
comparative genomic hybridization (6) 6
deficiency (6) 6
dna, mitochondrial - genetics (6) 6
melas syndrome - metabolism (6) 6
mitochondria (6) 6
mitochondrial diseases - genetics (6) 6
myopathy (6) 6
physiological aspects (6) 6
protein (6) 6
research (6) 6
seizures (6) 6
young adult (6) 6
abnormalities, multiple - genetics (5) 5
age (5) 5
cardiomyopathy (5) 5
case report (5) 5
chromosome deletion (5) 5
consanguinity (5) 5
family (5) 5
gene mutations (5) 5
genetic association studies (5) 5
human genetics (5) 5
liver (5) 5
melas (5) 5
mitochondrial proteins - genetics (5) 5
neurosciences (5) 5
nitric oxide - metabolism (5) 5
nitric oxide synthase (5) 5
phenotypes (5) 5
prognosis (5) 5
whole exome sequencing (5) 5
3-phosphoglycerate dehydrogenase-deficiency (4) 4
abridged index medicus (4) 4
biochemistry & molecular biology (4) 4
biomedicine (4) 4
carnitine - deficiency (4) 4
children (4) 4
chromosome duplication (4) 4
congenital diseases (4) 4
deletion (4) 4
developmental delay (4) 4
endothelial dysfunction (4) 4
epilepsy (4) 4
genetic disorders (4) 4
homozygote (4) 4
in situ hybridization, fluorescence (4) 4
intellectual disabilities (4) 4
intellectual disability - genetics (4) 4
melas syndrome (4) 4
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Molecules (Basel, Switzerland), ISSN 1420-3049, 09/2019, Volume 24, Issue 18, p. 3251
Carnitine plays essential roles in intermediary metabolism. In non-vegetarians, most of carnitine sources (~75%) are obtained from diet whereas endogenous... 
carnitine | carnitine palmitoyltransferase | trimethyllysine (TML) dioxygenase | carnitine transporter
Journal Article
Clinical Genetics, ISSN 0009-9163, 02/2019, Volume 95, Issue 2, pp. 325 - 328
Stickler syndrome is a collagenopathy that is typically inherited as autosomal dominant disease caused by monoallelic mutations in COL2A1 , COL11A2, and... 
LOXL3 | collagenopathy | lysyl oxidase | novel mutation | Stickler syndrome | OXIDASE-LIKE 3 | GENETICS & HEREDITY | Phenotypes | Collagen (type IX) | Lysine | Collagen | Elastin | Mutation | Lysyl oxidase
Journal Article
The Journal of Nutrition, ISSN 0022-3166, 07/2017, Volume 147, Issue 7, p. 1251
Mitochondrial disorders result from dysfunctional mitochondria that are unable to generate sufficient energy to meet the needs of various organs. Mitochondrial... 
Development and progression | Care and treatment | Mitochondrial diseases | Health aspects | Nitric oxide
Journal Article
Journal Article
Brain and Development, ISSN 0387-7604, 10/2018, Volume 40, Issue 9, pp. 824 - 826
Journal Article
Pediatric Clinics of North America, ISSN 0031-3955, 04/2018, Volume 65, Issue 2, pp. xix - xx
Journal Article
Human mutation, ISSN 1059-7794, 06/2019
We report four unrelated children with homozygous loss-of-function variants in TASP1 and an overlapping phenotype comprising developmental delay with hypotonia... 
Journal Article
Journal Article
PLOS ONE, ISSN 1932-6203, 11/2017, Volume 12, Issue 11, p. e15687
Journal Article
Pediatric Clinics of North America, ISSN 0031-3955, 04/2018, Volume 65, Issue 2, pp. 389 - 405
Newborn screening programs aim to achieve presymptomatic diagnosis of treatable disorders allowing for early initiation of medical care to prevent or reduce... 
Tandem mass spectroscopy | Newborn screening | Inborn errors of metabolism | PHENYLKETONURIA | DRIED-BLOOD SPOTS | DISORDERS | TANDEM MASS-SPECTROMETRY | DEFICIENCY | INBORN-ERRORS | METABOLISM | DNA | DISEASE | PEDIATRICS | OUTCOMES | Metabolism, Inborn Errors - diagnosis | Neonatal Screening - methods | Humans | Infant, Newborn
Journal Article
BMC Medical Genetics, ISSN 1471-2350, 10/2017, Volume 18, Issue 1, pp. 119 - 5
Background: Chromosomal rearrangements involving 17q23 have been described rarely. Deletions at 17q23.1q23.2 have been reported in individuals with... 
Chromosomal disorders | Genomic rearrangements | Chromosomal microarray | 17q23.2q23.3 duplication | GENETICS & HEREDITY | Seizures - genetics | Chromosome Duplication | Humans | Learning Disorders - physiopathology | Male | Developmental Disabilities - genetics | Electroencephalography | Self-Injurious Behavior - diagnosis | Seizures - physiopathology | Psychomotor Disorders - genetics | Psychomotor Disorders - physiopathology | Ataxia - genetics | Child | Developmental Disabilities - diagnosis | Speech Disorders - diagnosis | Ataxia - physiopathology | Developmental Disabilities - physiopathology | Gene Expression | Learning Disorders - diagnosis | Speech Disorders - genetics | Seizures - diagnosis | Gene Dosage | Ataxia - diagnosis | Speech Disorders - physiopathology | Proteins - genetics | Self-Injurious Behavior - genetics | Phenotype | Self-Injurious Behavior - physiopathology | Psychomotor Disorders - diagnosis | Learning Disorders - genetics | Chromosomes, Human, Pair 17 - chemistry | Case studies | Chromosome abnormalities | Diagnosis | Research | Gene mutations | Growth rate | Intellectual disabilities | Hyperactivity | Diagnostic tests | Genes | Genomes | Chromosome rearrangements | Clubfoot | Skills | Learning disabilities | Behavior | Chromosomes | Age | Chromosome 17 | Seizures | Phenotypes | Congenital diseases | EEG | DNA microarrays | Motor skill learning | Speech | Gene duplication | Ankyrin | Mutation | Foot diseases | Brain injury
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 06/2018, Volume 124, Issue 2, pp. 124 - 130
Mitochondrial DNA maintenance (mtDNA) defects have a wide range of causes, each with a set of phenotypes that overlap with many other neurological or muscular... 
Thymidine kinase 2 | Adult-onset | Early-onset | Mitochondrial DNA maintenance syndrome | MEDICINE, RESEARCH & EXPERIMENTAL | DEOXYGUANOSINE KINASE | MECHANISM | DEFICIENCIES | TK2 MUTATIONS | MITOCHONDRIAL-DNA DEPLETION | GENE | CLONING | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | MYOPATHIC FORM | PATIENT
Journal Article
Neuropediatrics, ISSN 0174-304X, 08/2018, Volume 49, Issue 4, pp. 289 - 295
Abstract Mutations in B3GALNT2 , encoding a glycosyltransferase enzyme involved in α-dystroglycan glycosylation, have been recently associated with... 
Short Communication | B3GALNT2 | congenital muscular dystrophy | West syndrome | dystroglycanopathy | hydrocephalus | brain malformations | DEFECTIVE GLYCOSYLATION | PEDIATRICS | CONGENITAL MUSCULAR-DYSTROPHIES | CLINICAL NEUROLOGY
Journal Article
No results were found for your search.

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