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science & technology (162) 162
life sciences & biomedicine (150) 150
humans (140) 140
genetics & heredity (101) 101
male (84) 84
mutation (81) 81
female (79) 79
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genetics (48) 48
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proteins (31) 31
gene mutations (30) 30
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animals (27) 27
molecular sequence data (27) 27
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intellectual disability - genetics (26) 26
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genetic disorders (25) 25
medical genetics (25) 25
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base sequence (22) 22
fundamental and applied biological sciences. psychology (22) 22
united arab emirates (22) 22
genetics of eukaryotes. biological and molecular evolution (20) 20
adult (19) 19
amino acid sequence (19) 19
analysis (19) 19
biochemistry & molecular biology (19) 19
dna mutational analysis (19) 19
mutation - genetics (19) 19
sequence analysis, dna (19) 19
neurology (18) 18
health aspects (17) 17
neurosciences & neurology (17) 17
genes, recessive (15) 15
infant, newborn (15) 15
molecular and cellular biology (15) 15
mutation, missense (15) 15
neurosciences (15) 15
general aspects. genetic counseling (14) 14
genotype (13) 13
malformations of the nervous system (13) 13
pediatrics (13) 13
risk factors (13) 13
brain (12) 12
genetic research (12) 12
genotype & phenotype (12) 12
multidisciplinary sciences (12) 12
phenotypes (12) 12
science & technology - other topics (12) 12
arabs (11) 11
chromosome mapping (11) 11
clinical neurology (11) 11
gene expression (11) 11
genetic linkage (11) 11
genomes (11) 11
magnetic resonance imaging (11) 11
autosomal recessive (10) 10
families & family life (10) 10
genomics (10) 10
medical colleges (10) 10
mice (10) 10
physiological aspects (10) 10
research article (10) 10
young adult (10) 10
cell line (9) 9
exome (9) 9
heterozygote (9) 9
human genetics (9) 9
intellectual disability (9) 9
medicine (9) 9
abnormalities, multiple - pathology (8) 8
alleles (8) 8
cohort studies (8) 8
enzymes (8) 8
facies (8) 8
family (8) 8
glycosylation (8) 8
hela cells (8) 8
mutation, missense - genetics (8) 8
neurodevelopmental disorders (8) 8
original (8) 8
osteochondrodysplasias - genetics (8) 8
protein transport (8) 8
studies (8) 8
amino acids (7) 7
causes of (7) 7
cerebellum - abnormalities (7) 7
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