X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (29) 29
index medicus (24) 24
genetics & heredity (22) 22
male (18) 18
female (17) 17
article (16) 16
child (13) 13
phenotype (13) 13
biochemistry & molecular biology (11) 11
genetics (11) 11
child, preschool (10) 10
animals (9) 9
methyl-cpg-binding protein 2 - genetics (9) 9
mice (9) 9
proteins (8) 8
autism (7) 7
epilepsy (7) 7
genetic aspects (7) 7
mecp2 (7) 7
mutation (7) 7
rett-syndrome (7) 7
adult (6) 6
gene (6) 6
genes (6) 6
genomics (6) 6
genotype & phenotype (6) 6
infant (6) 6
molecular sequence data (6) 6
research (6) 6
sequence analysis, dna (6) 6
adolescent (5) 5
base sequence (5) 5
chromosome deletion (5) 5
comparative genomic hybridization (5) 5
congenital, hereditary, and neonatal diseases and abnormalities (5) 5
gene expression (5) 5
genomes (5) 5
mental retardation (5) 5
mutations (5) 5
severe mental-retardation (5) 5
xq28 (5) 5
cell line (4) 4
clinical neurology (4) 4
epilepsy - genetics (4) 4
gene duplication (4) 4
gene duplication - genetics (4) 4
genotype (4) 4
magnetic resonance imaging (4) 4
microdeletion (4) 4
nervous system diseases (4) 4
neuropsychological tests (4) 4
protein (4) 4
rearrangements (4) 4
recurrent infections (4) 4
sequence deletion (4) 4
structural variation (4) 4
studies (4) 4
abnormalities, multiple - genetics (3) 3
age of onset (3) 3
association (3) 3
autistic disorder - genetics (3) 3
behavior (3) 3
brain (3) 3
brain - metabolism (3) 3
break-induced replication (3) 3
cell biology (3) 3
chromosomes, human, pair 2 (3) 3
cohort studies (3) 3
copy number (3) 3
copy-number (3) 3
copy-number variation (3) 3
developmental disabilities - genetics (3) 3
differentiation (3) 3
disease (3) 3
dna copy number variations (3) 3
duplication (3) 3
exons (3) 3
expression (3) 3
gene dosage (3) 3
genetic predisposition to disease (3) 3
genetic variation (3) 3
haploinsufficiency (3) 3
intellectual disability - genetics (3) 3
linked mental-retardation (3) 3
locus (3) 3
mental-retardation (3) 3
methods (3) 3
microcephaly (3) 3
middle aged (3) 3
mouse model (3) 3
muscle, skeletal - cytology (3) 3
neurosciences (3) 3
pediatrics (3) 3
pedigree (3) 3
phenotypes (3) 3
physiological aspects (3) 3
psychiatry (3) 3
research article (3) 3
siblings (3) 3
spectrum (3) 3
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Journal of Medical Genetics, ISSN 0022-2593, 10/2012, Volume 49, Issue 10, pp. 660 - 668
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 05/2010, Volume 152A, Issue 5, pp. 1079 - 1088
Journal Article
Nature, ISSN 0028-0836, 10/2008, Volume 455, Issue 7215, pp. 912 - 918
Failure of normal brain development leads to mental retardation or autism in about 3% of children. Many genes integral to pathways by which synaptic... 
Journal Article
Journal Article
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 10/2011, Volume 19, Issue 10, pp. 1110 - 1110
Journal Article
by Bernier, Raphael and Steinman, Kyle J and Reilly, Beau and Wallace, Arianne Stevens and Sherr, Elliott H and Pojman, Nicholas and Mefford, Heather C and Gerdts, Jennifer and Earl, Rachel and Hanson, Ellen and Goin-Kochel, Robin P and Berry, Leandra and Kanne, Stephen and Snyder, Leeanne Green and Spence, Sarah and Ramocki, Melissa B and Evans, David W and Spiro, John E and Martin, Christa L and Ledbetter, David H and Chung, Wendy K and Alupay, H and Aaronson, B and Ackerman, S and Ankenmann, K and Atwell, C and Aylward, E and Beaudet, A and Benedetti, M and Berman, J and Bernier, R and Bibb, A and Blaskey, L and Brewton, C and Buckner, R and Bukshpun, P and Burko, J and Cerban, B and Chen, Q and Cheong, M and Chu, Z and Dale, C and Dempsey, A and Elgin, J and Olson, J and Evans, Y and Faucett, W.A and Fischbach, G and Garza, S and Gerdts, J and Gobuty, S and Goin-Kochel, R and Grant, P.E and Snyder, L. Green and Greenup, M and Hanson, E and Hines, K and Hinkley, L and Hunter, J and Jeremy, R and Johnson, K and Kanne, S and Kessler, S and Khan, S and Laakman, A and Lasala, M and Ledbetter, D and Lee, H and Martin, C. Lese and Cavanagh, A. Lian and Llorens, A and Luks, T and Marco, E and Martin, A and Marzano, G and McGovern, K and Keehn, R. McNally and Miller, D and Miller, F and Moss, T and Mukherjee, P and Nagarajan, S and Nowell, K and Owen, J and Paal, A and Packer, A and Page, P and Paul, B and Pojman, N and Proud, M and Qasmieh, S and Ramocki, M and Reilly, Beau and Roberts, T and Shaw, D and Sherr, E and Sinha, T and Smith-Packard, B and Snow, A and Spence, S and ... and Simons VIP Consortium and Simons VIP consortium and on behalf of the Simons VIP consortium
Genetics in Medicine, ISSN 1098-3600, 04/2016, Volume 18, Issue 4, pp. 341 - 349
Journal Article