X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (28) 28
humans (22) 22
male (18) 18
female (16) 16
genetics & heredity (16) 16
mutation (14) 14
genetic aspects (12) 12
intellectual disability - genetics (12) 12
child (11) 11
genetics (11) 11
phenotype (11) 11
article (9) 9
gene mutations (9) 9
sequence analysis, dna (9) 9
adolescent (8) 8
animals (8) 8
analysis (7) 7
mental-retardation (7) 7
adult (6) 6
base sequence (6) 6
biochemistry & molecular biology (6) 6
child, preschool (6) 6
gene (6) 6
genetic association studies (6) 6
mice (6) 6
molecular sequence data (6) 6
research (6) 6
abnormalities, multiple - genetics (5) 5
genetic disorders (5) 5
genotype & phenotype (5) 5
health aspects (5) 5
mental retardation (5) 5
proteins (5) 5
syndrome (5) 5
young adult (5) 5
adaptor proteins, signal transducing - genetics (4) 4
autism (4) 4
genes (4) 4
genomics (4) 4
infant (4) 4
life sciences (4) 4
mutation, missense (4) 4
physiological aspects (4) 4
usage (4) 4
abridged index medicus (3) 3
care and treatment (3) 3
case-control studies (3) 3
causes of (3) 3
chromosomes (3) 3
craniofacial abnormalities - genetics (3) 3
developmental disabilities - genetics (3) 3
disease (3) 3
dna copy number variations (3) 3
enzymes (3) 3
exome - genetics (3) 3
gene deletion (3) 3
gene expression (3) 3
haploinsufficiency (3) 3
intellectual disability (3) 3
medical research (3) 3
microbiology (3) 3
neurosciences (3) 3
polymorphism, single nucleotide (3) 3
report (3) 3
abnormalities, multiple - pathology (2) 2
abstracts (2) 2
actin (2) 2
alleles (2) 2
amino acid sequence (2) 2
autistic disorder - genetics (2) 2
binding sites (2) 2
biocatalysis (2) 2
biosynthesis (2) 2
brain - abnormalities (2) 2
carrier proteins - genetics (2) 2
carrier proteins - metabolism (2) 2
children (2) 2
craniofacial abnormalities - diagnosis (2) 2
de-novo mutations (2) 2
deletion (2) 2
deletions (2) 2
diagnosis (2) 2
dishevelled proteins (2) 2
dna-binding proteins - genetics (2) 2
down-syndrome (2) 2
drosophila (2) 2
dwarfism - genetics (2) 2
escherichia-coli (2) 2
exome (2) 2
exome sequencing (2) 2
expression (2) 2
facies (2) 2
genetic diseases, x-linked - genetics (2) 2
genetic research (2) 2
genetic testing (2) 2
identification (2) 2
identification and classification (2) 2
inflammation (2) 2
intellectual disabilities (2) 2
intellectual disability - diagnosis (2) 2
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, 12/2017, Volume 54, Issue 12, pp. 830 - 835
Journal Article
Human Mutation, ISSN 1059-7794, 2013, Volume 34, Issue 4, pp. 587 - 594
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 2015, Volume 23, pp. 292 - 301
Baraitser-Winter, Fryns-Aftimos and cerebrofrontofacial syndrome types 1 and 3 have recently been associated with heterozygous gain-of-function mutations in... 
Journal Article
American Journal of Medical Genetics Part c : Seminars in Medical Genetics, ISSN 1552-4868, 2014, Volume 166C, pp. 262 - 275
Coffin-Siris syndrome (CSS) is a rare congenital malformation syndrome, recently found to be caused by mutations in several genes encoding components of the... 
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 2012, Volume 90, pp. 1094 - 1101
Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, neonatal macrosomia, a distinct osteochondrodysplasia, and cardiomegaly. Using an... 
Journal Article
Nature Genetics, ISSN 1061-4036, 2011, Volume 43, pp. 729 - 731
Bohring-Opitz syndrome is characterized by severe intellectual disability, distinctive facial features and multiple congenital malformations. We sequenced the... 
Journal Article
Nature Genetics, ISSN 1061-4036, 2012, Volume 44, Issue 4, pp. 440 - 444, S1-2
Journal Article
by Snijders Blok, Lot and Madsen, Erik and Juusola, Jane and Gilissen, Christian and Baralle, Diana and Reijnders, Margot R.F and Venselaar, Hanka and Helsmoortel, Céline and Cho, Megan T and Hoischen, Alexander and Vissers, Lisenka E.L.M and Koemans, Tom S and Wissink-Lindhout, Willemijn and Eichler, Evan E and Romano, Corrado and Van Esch, Hilde and Stumpel, Connie and Vreeburg, Maaike and Smeets, Eric and Oberndorff, Karin and van Bon, Bregje W.M and Shaw, Marie and Gecz, Jozef and Haan, Eric and Bienek, Melanie and Jensen, Corinna and Loeys, Bart L and Van Dijck, Anke and Innes, A. Micheil and Racher, Hilary and Vermeer, Sascha and Di Donato, Nataliya and Rump, Andreas and Tatton-Brown, Katrina and Parker, Michael J and Henderson, Alex and Lynch, Sally A and Fryer, Alan and Ross, Alison and Vasudevan, Pradeep and Kini, Usha and Newbury-Ecob, Ruth and Chandler, Kate and Male, Alison and Dijkstra, Sybe and Schieving, Jolanda and Giltay, Jacques and van Gassen, Koen L.I and Schuurs-Hoeijmakers, Janneke and Tan, Perciliz L and Pediaditakis, Igor and Haas, Stefan A and Retterer, Kyle and Reed, Patrick and Monaghan, Kristin G and Haverfield, Eden and Natowicz, Marvin and Myers, Angela and Kruer, Michael C and Stein, Quinn and Strauss, Kevin A and Brigatti, Karlla W and Keating, Katherine and Burton, Barbara K and Kim, Katherine H and Charrow, Joel and Norman, Jennifer and Foster-Barber, Audrey and Kline, Antonie D and Kimball, Amy and Zackai, Elaine and Harr, Margaret and Fox, Joyce and McLaughlin, Julie and Lindstrom, Kristin and Haude, Katrina M and van Roozendaal, Kees and Brunner, Han and Chung, Wendy K and Kooy, R. Frank and Pfundt, Rolph and Kalscheuer, Vera and Mehta, Sarju G and Katsanis, Nicholas and Kleefstra, Tjitske and DDD Study
The American Journal of Human Genetics, ISSN 0002-9297, 08/2015, Volume 97, Issue 2, pp. 343 - 352
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 2011, Volume 89, Issue 4, pp. 551 - 563
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 04/2015, Volume 96, Issue 4, pp. 612 - 622
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 03/2013, Volume 92, Issue 3, pp. 401 - 406
Journal Article