X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (5446) 5446
Publication (660) 660
Newsletter (203) 203
Book Chapter (55) 55
Book Review (45) 45
Conference Proceeding (21) 21
Book / eBook (16) 16
Magazine Article (6) 6
Newspaper Article (6) 6
Dissertation (3) 3
Reference (2) 2
Paper (1) 1
Streaming Video (1) 1
Web Resource (1) 1
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (3430) 3430
index medicus (2233) 2233
male (1910) 1910
female (1817) 1817
animals (1649) 1649
acidosis (1617) 1617
lactic-acidosis (1105) 1105
mutation (1022) 1022
adult (832) 832
genetics & heredity (697) 697
research (663) 663
child (635) 635
hydrogen-ion concentration (626) 626
infant (589) 589
dna, mitochondrial - genetics (588) 588
pediatrics (551) 551
mice (542) 542
genetic aspects (517) 517
child, preschool (510) 510
physiology (490) 490
metabolism (488) 488
biochemistry & molecular biology (487) 487
lactic acidosis (483) 483
adolescent (475) 475
middle aged (461) 461
rats (459) 459
mitochondrial dna (445) 445
physiological aspects (445) 445
renal tubular-acidosis (445) 445
infant, newborn (441) 441
cell biology (435) 435
urology & nephrology (431) 431
stroke-like episodes (423) 423
analysis (410) 410
clinical neurology (400) 400
medicine (395) 395
encephalopathy (387) 387
multidisciplinary sciences (382) 382
point mutation (382) 382
research article (381) 381
acidosis - metabolism (379) 379
acidosis, renal tubular - genetics (379) 379
proteins (378) 378
mitochondria (374) 374
disease (362) 362
neurosciences (352) 352
endocrinology & metabolism (336) 336
phenotype (335) 335
myopathy (334) 334
gene (331) 331
molecular sequence data (329) 329
gene expression (327) 327
health aspects (312) 312
pedigree (309) 309
melas (306) 306
expression (303) 303
diagnosis (300) 300
metabolic acidosis (277) 277
melas syndrome - genetics (271) 271
base sequence (268) 268
risk factors (265) 265
article (261) 261
dna (258) 258
science (258) 258
cells (257) 257
cells, cultured (256) 256
acidosis, lactic - genetics (255) 255
medicine, research & experimental (255) 255
metabolic-acidosis (254) 254
children (243) 243
care and treatment (242) 242
mutations (242) 242
genetics (241) 241
rodents (238) 238
kidneys (227) 227
dna mutational analysis (225) 225
genes (218) 218
rna, messenger - metabolism (218) 218
aged (217) 217
hypoxia (217) 217
enzymes (211) 211
acidosis - genetics (205) 205
cattle (202) 202
amino acid sequence (199) 199
kidney - metabolism (198) 198
magnetic resonance imaging (195) 195
patients (194) 194
cell line (193) 193
mitochondrial diseases - genetics (191) 191
deficiency (188) 188
medicine, general & internal (187) 187
syndrome (187) 187
ph effects (185) 185
mitochondria - metabolism (184) 184
renal tubular acidosis (184) 184
apoptosis (179) 179
cancer (178) 178
biology (176) 176
polymerase chain reaction (176) 176
medicine & public health (175) 175
more...
Library Location Library Location
Language Language
Language Language
X
Sort by Item Count (A-Z)
Filter by Count
English (5507) 5507
French (56) 56
Japanese (38) 38
Spanish (34) 34
German (30) 30
Portuguese (11) 11
Italian (9) 9
Chinese (7) 7
Korean (7) 7
Russian (7) 7
Polish (4) 4
Dutch (3) 3
Czech (2) 2
Finnish (2) 2
Hebrew (2) 2
Hungarian (2) 2
Turkish (2) 2
Danish (1) 1
Romanian (1) 1
Swedish (1) 1
more...
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Journal Article
Journal Article
Human Mutation, ISSN 1059-7794, 08/2014, Volume 35, Issue 8, pp. 983 - 989
By way of whole‐exome sequencing, we identified a homozygous missense mutation in VARS2 in one subject with microcephaly and epilepsy associated with isolated... 
aminoacyl tRNA syntethases | TARS2 | encephalomyopathy | VARS2 | OXPHOS defect | mitochondrial disease | Encephalomyopathy | Aminoacyl tRNA syntethases | Mitochondrial disease | CELLS | CARDIOMYOPATHY | INVOLVEMENT | BRAIN-STEM | TRANSFER-RNA SYNTHETASES | LEUKOENCEPHALOPATHY | GENE | DISEASE | GENETICS & HEREDITY | LACTIC-ACIDOSIS | COMPLEX-I DEFICIENCY | Mitochondria - enzymology | Saccharomyces cerevisiae - genetics | Humans | Mitochondrial Encephalomyopathies - enzymology | Infant | Male | Threonine-tRNA Ligase - genetics | HLA Antigens - genetics | RNA, Messenger - metabolism | Electron Transport Complex I - metabolism | Saccharomyces cerevisiae - metabolism | RNA, Transfer, Val - genetics | DNA, Mitochondrial - genetics | Mitochondria - genetics | Electron Transport Complex I - genetics | Isoenzymes - metabolism | Valine-tRNA Ligase - metabolism | Valine-tRNA Ligase - genetics | Child | RNA, Transfer, Thr - genetics | Fibroblasts - metabolism | Cell Line | DNA, Mitochondrial - metabolism | RNA, Transfer, Thr - metabolism | Isoenzymes - genetics | Mitochondrial Encephalomyopathies - genetics | RNA, Messenger - genetics | Mitochondria - pathology | HLA Antigens - metabolism | Polymorphism, Genetic | Mitochondrial Encephalomyopathies - pathology | RNA, Transfer, Val - metabolism | Homozygote | Heterozygote | Fibroblasts - cytology | Mutation | Threonine-tRNA Ligase - metabolism | Proteins | Care and treatment | Analysis | Epilepsy | Genetic aspects | Single nucleotide polymorphisms | Aminoacyl-tRNA synthetases | Transfer RNA
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 09/2013, Volume 93, Issue 3, pp. 471 - 481
Journal Article
PLoS ONE, ISSN 1932-6203, 10/2012, Volume 7, Issue 10, p. e47463
Human genetic background strongly influences susceptibility to malaria infection and progression to severe disease and death. Classical genetic studies... 
GLUCOSE-6-PHOSPHATE DEHYDROGENASE | TUMOR-NECROSIS-FACTOR | WEST-AFRICA | G6PD DEFICIENCY | AFRICAN CHILDREN | MULTIDISCIPLINARY SCIENCES | SUSCEPTIBILITY | IL-10 PRODUCTION | INFECTION | PLASMODIUM-FALCIPARUM MALARIA | ASSOCIATION | Malaria, Falciparum - genetics | Genetic Predisposition to Disease - genetics | Genes, X-Linked - genetics | Membrane Proteins - genetics | Humans | Risk Factors | Tanzania | Child, Preschool | Genotype | Infant | Logistic Models | Male | Nerve Tissue Proteins - genetics | Carrier Proteins - genetics | Interleukin-13 - genetics | CD40 Ligand - genetics | Sex Factors | Female | Interleukin-1alpha - genetics | Polymorphism, Single Nucleotide | Glucosephosphate Dehydrogenase - genetics | Adenylyl Cyclases - genetics | Child | Medical research | Malaria | Genes | Genetic research | Medicine, Experimental | Development and progression | Disease susceptibility | Genetic aspects | Single nucleotide polymorphisms | Haplotypes | Disease | Genomics | Risk | Single-nucleotide polymorphism | Males | Gene polymorphism | Epidemiology | Population genetics | CD40L protein | Tropical diseases | Red blood cells | Interleukin 1 | Population | Tumor necrosis factor-TNF | Children | Glucosephosphate dehydrogenase | Blood groups | Vector-borne diseases | Cytokines | Mortality | Health risks | Mass spectroscopy | Interleukin 13 | Gene expression | Heterozygosity | Medicine | Genotyping | Lactic acid | Mutation | Females | Acidosis | Mass spectrometry | Hygiene | Polymorphism
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 08/2013, Volume 93, Issue 2, pp. 211 - 223
Journal Article
PLoS Genetics, ISSN 1553-7390, 07/2017, Volume 13, Issue 7, p. e1006921
Several oxidative phosphorylation (OXPHOS) diseases are caused by defects in the post-transcriptional modification of mitochondrial tRNAs (mt-tRNAs). Mutations... 
LIFE-SPAN | GTP-BINDING PROTEIN | UNFOLDED PROTEIN RESPONSE | HYPERTROPHIC CARDIOMYOPATHY | STRESS RESPONSES | MEMBRANE-POTENTIALS | GENETICS & HEREDITY | NORTHERN BLOT METHOD | C-ELEGANS | LACTIC-ACIDOSIS | MODIFYING ENZYMES | Mitochondrial Diseases - genetics | Cell Nucleolus - genetics | Caenorhabditis elegans - genetics | Gene Expression - genetics | Electron Transport - genetics | Humans | Mitochondrial Diseases - metabolism | Oxidative Phosphorylation | Mitochondria - metabolism | Mitochondrial Proteins - genetics | Signal Transduction - genetics | GTP-Binding Proteins - genetics | Carrier Proteins - genetics | Animals | tRNA Methyltransferases - genetics | Mitochondria - genetics | RNA, Transfer - genetics | Mutation | Caenorhabditis elegans Proteins - genetics | Disease Models, Animal | Physiological aspects | Caenorhabditis elegans | Genetic aspects | Gene mutations | Observations | Transfer RNA | Pyrimidines | Liver diseases | Analysis | Electron transport | Tricarboxylic acid cycle | Post-transcription | Phosphorylation | Animal models | Transcription | Genes | Liver | Mitochondrial DNA | Defects | Proteins | Electron transport chain | Mitochondria | Bioenergetics | Metabolites | Fertility | Rewiring | Cell cycle | Heart diseases | Heart failure | tRNA Ala | Deactivation | tRNA | Therapeutic applications | Metabolism | Gene expression | Retrograde transport | Sterility | Life span | Acids | Oxidative phosphorylation | Nematodes | Uridine | Respiration | Basic Medicine | Medical Genetics | Medicinsk genetik | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 07/2010, Volume 87, Issue 1, pp. 52 - 59
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 10/2015, Volume 167, Issue 10, pp. 2366 - 2374
We report on clinical, genetic and metabolic investigations in a family with optic neuropathy, non-progressive cardiomyopathy and cognitive disability.... 
mitochondrial tRNA | mtDNA | mitochondria | optic neuropathy | cognitive disability | cardiomyopathy | MTO1 | respiratory chain | Mitochondria | MtDNA | Respiratory chain | Optic neuropathy | Cardiomyopathy | Cognitive disability | Mitochondrial tRNA | HUMANS | DISORDERS | COUPLING DEFECT | HYPERTROPHIC CARDIOMYOPATHY | DATABASE | DNA | DISEASE | GENETICS & HEREDITY | LACTIC-ACIDOSIS | TRANSFER-RNA | Electron Transport Complex III - genetics | Humans | Middle Aged | Optic Nerve Diseases - diagnosis | Intellectual Disability - complications | Male | Intellectual Disability - genetics | Optic Nerve Diseases - pathology | Cardiomyopathies - genetics | Optic Nerve Diseases - complications | DNA Mutational Analysis | Electron Transport Complex I - genetics | Cardiomyopathies - diagnosis | Optic Disk - metabolism | Membrane Potential, Mitochondrial - genetics | Adult | Female | Gene Expression | Electron Transport Complex II - genetics | RNA, Transfer, Phe - genetics | Intellectual Disability - pathology | Cardiomyopathies - pathology | Mitochondria - metabolism | Electron Transport Complex IV - genetics | Mitochondria - pathology | Visual Acuity | Optic Nerve Diseases - genetics | Carrier Proteins - genetics | Homozygote | Pedigree | Intellectual Disability - diagnosis | Cardiomyopathies - complications | Mutation | Optic Disk - pathology | Care and treatment | Analysis | Genetic research | Genetic aspects | Mitochondrial DNA | Cognition disorders | Heart diseases | Optic nerve | Cognitive ability | Visual evoked potentials | Neuropathy | Acuity | Electroretinograms | Atrophy | Optic atrophy | Biopsy | Electron transport | DNA sequencing | Life Sciences | Genetics
Journal Article