X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (228) 228
Publication (58) 58
Newspaper Article (41) 41
Book Chapter (8) 8
Book / eBook (5) 5
Conference Proceeding (2) 2
Dissertation (2) 2
Patent (1) 1
Reference (1) 1
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (122) 122
genetics & heredity (111) 111
humans (110) 110
female (69) 69
male (65) 65
mutation (60) 60
article (54) 54
child (43) 43
phenotype (39) 39
analysis (33) 33
infant (32) 32
genetic aspects (31) 31
child, preschool (30) 30
mutations (30) 30
de lange syndrome - genetics (28) 28
de lange syndrome (27) 27
cornelia de lange syndrome (26) 26
nipbl (25) 25
nipped-b (25) 25
adult (24) 24
animals (23) 23
proteins (23) 23
genes (22) 22
genetics (22) 22
research (22) 22
adolescent (21) 21
children (20) 20
cohesin (20) 20
chromosomal proteins, non-histone - genetics (17) 17
genetic disorders (17) 17
genotype (17) 17
infant, newborn (17) 17
sister-chromatid cohesion (17) 17
biochemistry & molecular biology (16) 16
cell cycle proteins - genetics (16) 16
diagnosis (16) 16
genomics (16) 16
individuals (16) 16
proteins - genetics (16) 16
young adult (16) 16
amino acid sequence (15) 15
mosaicism (15) 15
patients (15) 15
homolog (14) 14
molecular sequence data (14) 14
gene (13) 13
gene expression (13) 13
gene mutations (13) 13
genomes (13) 13
behavior (12) 12
expression (12) 12
intellectual disability (12) 12
intellectual disability - genetics (12) 12
de lange syndrome - diagnosis (11) 11
de lange syndrome - pathology (11) 11
defects (11) 11
mental-retardation (11) 11
mutation - genetics (11) 11
mutation, missense (11) 11
polymorphism, single nucleotide (11) 11
chromosome deletion (10) 10
chromosomes (10) 10
de-lange-syndrome (10) 10
deletion (10) 10
disease (10) 10
facies (10) 10
family (10) 10
genetic research (10) 10
intellectual disabilities (10) 10
medical genetics (10) 10
mice (10) 10
phenotypes (10) 10
risk factors (10) 10
cdls (9) 9
chromosomal proteins, non-histone - metabolism (9) 9
clonal deletion (9) 9
congenital defects (9) 9
drosophila (9) 9
etiology (9) 9
pediatrics (9) 9
pregnancy (9) 9
abnormalities (8) 8
abnormalities, multiple - genetics (8) 8
age (8) 8
brachmann-delange syndrome (8) 8
cell cycle proteins - metabolism (8) 8
deoxyribonucleic acid--dna (8) 8
developmental biology (8) 8
dna mutational analysis (8) 8
epilepsy (8) 8
exome - genetics (8) 8
genetic association studies (8) 8
genotypes (8) 8
medical colleges (8) 8
pedigree (8) 8
smc1a (8) 8
smc3 (8) 8
transcription (8) 8
transcription factors - genetics (8) 8
autism (7) 7
more...
Library Location Library Location
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Journal Article
Nature genetics, ISSN 1061-4036, 2012, Volume 44, Issue 4, pp. 445 - U261
Journal Article
Nature Genetics, ISSN 1061-4036, 04/2015, Volume 47, Issue 4, pp. 338 - 344
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 06/2012, Volume 90, Issue 6, pp. 1014 - 1027
Journal Article
Journal Article
by Green, Robert C and Green, Robert and Goddard, Katrina and Goddard, Katrina A.B and Jarvik, Gail P and Amendola, Laura M and Amendola, Laura and Appelbaum, Paul S and Berg, Jonathan S and Bernhardt, Barbara A and Biesecker, Barbara B and Biesecker, Leslie G and Biswas, Sawona and Blout, Carrie L and Bowling, Kevin M and Brothers, Kyle B and Burke, Wylie and Caga-anan, Charlisse F and Chinnaiyan, Arul M and Chung, Wendy K and Chung, Wendy and Clayton, Ellen and Clayton, Ellen W and Cooper, Greg M and Cooper, Gregory M and East, Kelly and East, Kelly M and Evans, James P and Evans, Barbara and Fullerton, Stephanie M and Garraway, Levi A and Garrett, Jeremy R and Gray, David E and Gray, Stacy W and Henderson, Gail E and Hindorff, Lucia A and Holm, Ingrid A and Lewis, Michelle and Lewis, Katie and Lewis, Michelle Huckaby and Hutter, Carolyn M and Janne, Pasi A and Joffe, Steve and Joffe, Steven and Kaufman, Dave and Kaufman, David and Knoppers, Bartha and Knoppers, Bartha M and Koenig, Barbara A and Krantz, Ian and Krantz, Ian D and Manolio, Teri A and McCullough, Laurence and McEwen, Jean and McGuire, Amy and Muzny, Donna and Myers, Richard M and Nickerson, Deborah A and Ou, Jeffrey and Parsons, Will and Parsons, Donald W and Petersen, Gloria and Petersen, Gloria M and Plon, Sharon and Plon, Sharon E and Rehm, Heidi L and Roberts, Scott and Roberts, J. Scott and Robinson, Marguerite E and Robinson, Jill O and Robinson, Dan and Salama, Joseph and Salama, Joseph S and Scollon, Sarah and Sharp, Richard R and Shirts, Brian and Shirts, Brian H and Spinner, Nancy B and Tabor, Holly K and Tarczy-Hornoch, Peter and Veenstra, David L and Wagle, Nikhil and Weck, Karen and Wilfond, Ben and Wilfond, Benjamin S and Wilhelmsen, Kirk C and Wilhelmsen, Kirk and Wolf, Susan M and Wynn, Julia and Yu, Joon-Ho and Amaral, Michelle and Aronson, Samuel J and Arora, Shubhangi and Azzariti, Danielle R and Barsh, Greg S and Bebin, E.M and Brown, Brian L and Burt, Amber A and Byers, Peter H and Calikoglu, Muge G and ... and CSER Consortium
The American Journal of Human Genetics, ISSN 0002-9297, 06/2016, Volume 98, Issue 6, pp. 1051 - 1066
Journal Article
Nature Biotechnology, ISSN 1087-0156, 05/2016, Volume 34, Issue 5, pp. 531 - 538
Journal Article