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humans (279) 279
science & technology (272) 272
life sciences & biomedicine (264) 264
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infant (83) 83
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mitochondria (63) 63
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mitochondrial diseases - genetics (53) 53
animals (52) 52
mitochondria - metabolism (51) 51
dna, mitochondrial - genetics (49) 49
cell biology (48) 48
neurosciences & neurology (47) 47
clinical neurology (46) 46
mitochondrial dna (46) 46
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electron transport complex i - deficiency (39) 39
electron transport complex i - genetics (39) 39
endocrinology & metabolism (39) 39
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internal medicine (35) 35
human genetics (33) 33
biochemistry, general (32) 32
phenotype (32) 32
fundamental and applied biological sciences. psychology (31) 31
molecular sequence data (31) 31
mitochondrial diseases - metabolism (30) 30
mitochondrial diseases - diagnosis (29) 29
biophysics (28) 28
dna mutational analysis (28) 28
electron transport complex i - metabolism (28) 28
fibroblasts - metabolism (28) 28
genetics (28) 28
medical genetics (28) 28
fibroblasts (27) 27
amino acid sequence (26) 26
analysis (26) 26
neurosciences (26) 26
enzymes (25) 25
genetics of eukaryotes. biological and molecular evolution (24) 24
miscellaneous hereditary metabolic disorders (24) 24
molecular and cellular biology (24) 24
fibroblasts - enzymology (23) 23
mitochondria - genetics (23) 23
mitochondrial diseases - pathology (22) 22
mitochondrial proteins - genetics (22) 22
complex i (21) 21
mitochondria - enzymology (21) 21
proteins (21) 21
base sequence (20) 20
genetic aspects (20) 20
middle aged (20) 20
physiological aspects (20) 20
abridged index medicus (19) 19
heterozygote (19) 19
mutation - genetics (19) 19
pedigree (19) 19
phosphorylation (19) 19
leigh disease - genetics (18) 18
mice (18) 18
genes (17) 17
research (17) 17
adenosine triphosphate - metabolism (16) 16
biochemistry (16) 16
biopsy (16) 16
energy metabolism (16) 16
fatal outcome (16) 16
mitochondria - pathology (16) 16
mitochondrial disease (16) 16
electron transport complex i (15) 15
molecular biology (15) 15
nadh, nadph oxidoreductases - genetics (15) 15
cell line (14) 14
complex i deficiency (14) 14
diseases of striated muscles. neuromuscular diseases (14) 14
fibroblasts - ultrastructure (14) 14
gene expression (14) 14
medicine (14) 14
mitochondrial diseases (14) 14
muscle, skeletal - enzymology (14) 14
nadh dehydrogenase - genetics (13) 13
nadh:ubiquinone oxidoreductase (13) 13
reactive oxygen species - metabolism (13) 13
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