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science & technology (258) 258
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humans (232) 232
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mice (58) 58
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dna mutational analysis (36) 36
genetics of eukaryotes. biological and molecular evolution (35) 35
mental retardation, x-linked - genetics (35) 35
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research (33) 33
chromosome mapping (32) 32
molecular and cellular biology (31) 31
proteins (30) 30
adult and adolescent clinical studies (29) 29
genetic linkage (29) 29
intellectual deficiency (29) 29
psychology. psychoanalysis. psychiatry (29) 29
psychopathology. psychiatry (29) 29
amino acid sequence (26) 26
human genetics (26) 26
polymerase chain reaction (26) 26
infant (24) 24
cells, cultured (23) 23
epilepsy (23) 23
exons (23) 23
gene expression (23) 23
gene mutations (22) 22
middle aged (22) 22
neurons (22) 22
rett syndrome - genetics (22) 22
brain - pathology (21) 21
general aspects. genetic counseling (21) 21
intellectual disabilities (21) 21
rett syndrome (21) 21
x-linked mental retardation (21) 21
magnetic resonance imaging (19) 19
mutation, missense (19) 19
genotype (18) 18
neurons and cognition (18) 18
young adult (18) 18
dystrophin - genetics (17) 17
genetic disorders (17) 17
nerve tissue proteins - genetics (17) 17
nervous system (17) 17
x chromosome - genetics (17) 17
malformations of cortical development - genetics (16) 16
microtubule-associated proteins - genetics (16) 16
neuropeptides - genetics (16) 16
neuroscience (16) 16
nuclear proteins - genetics (16) 16
physiological aspects (16) 16
rats (16) 16
tubulin - genetics (16) 16
biomedicine (15) 15
brain (15) 15
brain - metabolism (15) 15
chromosomes, human, x - genetics (15) 15
dna - genetics (15) 15
microcephaly (15) 15
patients (15) 15
transcription factors - genetics (15) 15
analysis (14) 14
disease models, animal (14) 14
lissencephaly (14) 14
molecular medicine (14) 14
multidisciplinary sciences (14) 14
science & technology - other topics (14) 14
[sdv.gen]life sciences [q-bio]/genetics (13) 13
degenerative and inherited degenerative diseases of the nervous system. leukodystrophies. prion diseases (13) 13
dna-binding proteins - genetics (13) 13
dystrophin (13) 13
mice, inbred c57bl (13) 13
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2002, Annales de l'Institut Pasteur. Actualités, ISBN 2842993993, Volume 14., 111
Book
Brain (London, England : 1878), ISSN 0006-8950, 10/2008, Volume 131, Issue 10, pp. 2647 - 2661
Journal Article
Brain (London, England : 1878), ISSN 0006-8950, 2014, Volume 137, Issue 6, pp. 1676 - 1700
Journal Article