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Journal Article (159) 159
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science & technology (117) 117
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genetics & heredity (66) 66
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mutation (61) 61
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pedigree (36) 36
genetic aspects (33) 33
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dna mutational analysis (27) 27
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otorhinolaryngologic diseases (17) 17
deafness - genetics (16) 16
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hearing loss, sensorineural - genetics (15) 15
genetic predisposition to disease (14) 14
molecular sequence data (14) 14
alleles (13) 13
genes (13) 13
aged (12) 12
ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology (12) 12
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otorhinolaryngology. stomatology (12) 12
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fundamental and applied biological sciences. psychology (11) 11
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abridged index medicus (10) 10
amino acid sequence (10) 10
genetics of eukaryotes. biological and molecular evolution (10) 10
genomes (10) 10
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usher syndromes - genetics (10) 10
analysis (9) 9
connexins - genetics (9) 9
gene expression (9) 9
general & internal medicine (9) 9
genetic association studies (9) 9
genetic testing (9) 9
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chromosome mapping (8) 8
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gene deletion (8) 8
general aspects. genetic counseling (8) 8
genetic variation (8) 8
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human genetics (8) 8
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molecular and cellular biology (8) 8
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consanguinity (7) 7
dna, mitochondrial - genetics (7) 7
exons - genetics (7) 7
genetic linkage (7) 7
membrane proteins - genetics (7) 7
mitochondrial dna (7) 7
retinitis pigmentosa (7) 7
retrospective studies (7) 7
sequence analysis, dna (7) 7
transcription factors - genetics (7) 7
abnormalities, multiple - genetics (6) 6
complex syndromes (6) 6
dna - genetics (6) 6
dna sequencing (6) 6
exome (6) 6
extracellular matrix proteins - genetics (6) 6
genetic screening (6) 6
health aspects (6) 6
long qt syndrome - genetics (6) 6
medicin och hälsovetenskap (6) 6
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Journal Article