X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (67) 67
humans (52) 52
genetics & heredity (49) 49
male (38) 38
article (36) 36
female (36) 36
animals (28) 28
mutation (27) 27
mitochondria (23) 23
child (22) 22
genetic aspects (20) 20
child, preschool (19) 19
infant (18) 18
phenotype (18) 18
gene (17) 17
biochemistry & molecular biology (16) 16
genetics (15) 15
research (15) 15
mitochondria - metabolism (14) 14
analysis (13) 13
drosophila (13) 13
physiological aspects (13) 13
infant, newborn (12) 12
medicine, research & experimental (12) 12
mitochondrial dna (12) 12
molecular sequence data (12) 12
mutations (12) 12
proteins (12) 12
amino acid sequence (11) 11
cell biology (11) 11
metabolism (11) 11
mice (11) 11
protein (11) 11
adolescent (10) 10
disease (10) 10
dna, mitochondrial - genetics (10) 10
genes (10) 10
genomics (10) 10
metabolites (10) 10
pedigree (10) 10
adult (9) 9
drosophila proteins - metabolism (9) 9
endocrinology & metabolism (9) 9
expression (9) 9
medical colleges (9) 9
health aspects (8) 8
mitochondria - genetics (8) 8
mitochondrial diseases - genetics (8) 8
mitochondrial proteins - genetics (8) 8
pediatrics (8) 8
biology (7) 7
cloning (7) 7
diagnosis (7) 7
disorders (7) 7
drosophila melanogaster (7) 7
drosophila proteins - genetics (7) 7
family (7) 7
genetic variation (7) 7
intellectual disability (7) 7
medicine (7) 7
mental-retardation (7) 7
mutation, missense (7) 7
age (6) 6
alleles (6) 6
cardiomyopathy (6) 6
developmental delay (6) 6
developmental disabilities - genetics (6) 6
disease models, animal (6) 6
epilepsy (6) 6
exome (6) 6
gene mutations (6) 6
genetic research (6) 6
insects (6) 6
mitochondrial diseases - diagnosis (6) 6
neurosciences (6) 6
oxidative phosphorylation (6) 6
research article (6) 6
sequence analysis, dna (6) 6
whole exome sequencing (6) 6
young adult (6) 6
autism (5) 5
clonal deletion (5) 5
deficiency (5) 5
dna sequencing (5) 5
drosophila melanogaster - genetics (5) 5
enzymes (5) 5
gene expression (5) 5
gene-expression (5) 5
genomes (5) 5
human genetics (5) 5
intellectual disabilities (5) 5
intellectual disability - genetics (5) 5
medical research (5) 5
mitochondria - pathology (5) 5
mitochondrial disease (5) 5
mitochondrial proteins - metabolism (5) 5
nervous system diseases (5) 5
neurodegeneration (5) 5
oxidative stress (5) 5
phosphorylation (5) 5
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Journal Article
Optics Letters, ISSN 0146-9592, 04/2016, Volume 41, Issue 8, pp. 1769 - 1772
Spontaneous Raman scattering is a powerful tool for chemical sensing and imaging but suffers from a weak signal. In this Letter, we present an application of... 
Spectrum Analysis, Raman | Scattering, Radiation | Tracking | Raman scattering | Scattering | Spontaneous | Focusing | Titanium dioxide | Optical memory (data storage) | Wave fronts
Journal Article
Journal of Chromatography B, ISSN 1570-0232, 10/2019, Volume 1128, p. 121786
Plasma elevations of the amino acids alloisoleucine and argininosuccinic acid (ASA) are pathognomonic for maple syrup urine disease and argininosuccinate lyase... 
L-Alloisoleucine | Intrada | MSUD | Amino acid | Argininosuccinic aciduria | ASA
Journal Article
Circulation, ISSN 0009-7322, 11/2016, Volume 134, Issue Suppl_1 Suppl 1, pp. A15820 - A15820
IntroductionMutations in the LMNA gene, encoding Lamin A/C, cause several distinct phenotypes collectively referred to as laminopathies. Cardiac involvement is... 
Journal Article
Developmental Cell, ISSN 1534-5807, 03/2019, Volume 48, Issue 5, pp. 685 - 696.e5
Lysosomes and mitochondria are both crucial cellular organelles for metabolic homeostasis and organism health. However, mechanisms linking their metabolic... 
inter-organelle coordination | lysosomal signaling | longevity | metabolism | redox homeostasis | aging | mitochondrial signaling | HIF-1 | SUCCINATE-DEHYDROGENASE | OXIDATIVE STRESS | METABOLISM | SYSTEMATIC RNAI SCREEN | RESPIRATION | GENES | EXTENDS LIFE-SPAN | COMPLEX II | DEVELOPMENTAL BIOLOGY | ELECTRON-TRANSPORT | CELL BIOLOGY | Antioxidants | Medical colleges | Lipase | Developmental biology
Journal Article
JAMA Pediatrics, ISSN 2168-6203, 12/2017, Volume 171, Issue 12, pp. e173438 - e173438
Journal Article
Neuron, ISSN 0896-6273, 04/2012, Volume 74, Issue 1, pp. 79 - 94
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 05/2010, Volume 47, Issue 5, pp. 332 - 341
Journal Article
Journal Article
Neuron, ISSN 0896-6273, 01/2017, Volume 93, Issue 1, pp. 115 - 131
Journal Article