X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (12892) 12892
Dissertation (149) 149
Book Chapter (101) 101
Publication (44) 44
Conference Proceeding (36) 36
Magazine Article (9) 9
Newsletter (5) 5
Book / eBook (2) 2
Data Set (1) 1
Journal / eJournal (1) 1
Reference (1) 1
Web Resource (1) 1
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (9111) 9111
mutation (5476) 5476
female (5219) 5219
male (5064) 5064
genetics & heredity (4594) 4594
exome (4498) 4498
whole exome sequencing (3237) 3237
genetic aspects (3147) 3147
genetics (2615) 2615
exome sequencing (2516) 2516
genes (2422) 2422
adult (2421) 2421
genomics (2409) 2409
exome - genetics (2390) 2390
pedigree (2351) 2351
mutations (2347) 2347
genomes (2062) 2062
phenotype (2055) 2055
research (1926) 1926
child (1791) 1791
middle aged (1783) 1783
analysis (1567) 1567
cancer (1473) 1473
gene (1388) 1388
genetic predisposition to disease (1386) 1386
sequence analysis, dna (1342) 1342
gene mutations (1337) 1337
disease (1327) 1327
high-throughput nucleotide sequencing (1314) 1314
whole-exome sequencing (1311) 1311
adolescent (1309) 1309
child, preschool (1241) 1241
oncology (1172) 1172
animals (1138) 1138
diagnosis (1135) 1135
variants (1131) 1131
dna sequencing (1115) 1115
genetic research (1088) 1088
aged (1074) 1074
dna mutational analysis (1065) 1065
proteins (1048) 1048
polymorphism, single nucleotide (1030) 1030
deoxyribonucleic acid--dna (1026) 1026
genotype (978) 978
young adult (977) 977
infant (964) 964
genetic variation (959) 959
usage (931) 931
expression (906) 906
patients (904) 904
nucleotide sequencing (889) 889
health aspects (875) 875
medicine (861) 861
mutation - genetics (858) 858
gene expression (856) 856
biochemistry & molecular biology (839) 839
multidisciplinary sciences (837) 837
identification (825) 825
alleles (811) 811
genome (794) 794
risk factors (793) 793
genetic testing (791) 791
genetic association studies (734) 734
research article (727) 727
tumors (725) 725
clinical neurology (722) 722
mutation, missense (713) 713
phenotypes (706) 706
base sequence (705) 705
sequence analysis, dna - methods (689) 689
pediatrics (686) 686
neurosciences (685) 685
protein (677) 677
mice (666) 666
abridged index medicus (659) 659
next-generation sequencing (649) 649
genome, human (640) 640
medical research (629) 629
gene sequencing (623) 623
heterozygote (616) 616
studies (616) 616
association (613) 613
family (609) 609
homozygote (608) 608
genome-wide association study (606) 606
genetic disorders (595) 595
molecular sequence data (585) 585
bioinformatics (574) 574
children (569) 569
intellectual disability (553) 553
cell biology (547) 547
amino acid sequence (542) 542
risk (542) 542
care and treatment (535) 535
framework (531) 531
medical genetics (519) 519
dna (516) 516
gene frequency (509) 509
software (507) 507
high-throughput nucleotide sequencing - methods (500) 500
more...
Library Location Library Location
Language Language
Language Language
X
Sort by Item Count (A-Z)
Filter by Count
English (13000) 13000
Japanese (71) 71
French (69) 69
Portuguese (43) 43
German (41) 41
Chinese (40) 40
Spanish (24) 24
Russian (20) 20
Korean (14) 14
Norwegian (6) 6
Turkish (6) 6
Czech (5) 5
Danish (5) 5
Hungarian (5) 5
Dutch (4) 4
Persian (3) 3
Hebrew (2) 2
Finnish (1) 1
Polish (1) 1
more...
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Journal Article
Nature (London), ISSN 0028-0836, 2012, Volume 485, Issue 7397, pp. 242 - 245
Journal Article
Cancer, ISSN 0008-543X, 2017, Volume 123, Issue 2, pp. 210 - 218
Journal Article
JAMA pediatrics, ISSN 2168-6203, 10/2017, Volume 171, Issue 12, pp. e173438 - e173438
Journal Article
Immunity (Cambridge, Mass.), ISSN 1074-7613, 2017, Volume 46, Issue 2, pp. 197 - 204
Journal Article
Journal Article
Genetics in medicine, ISSN 1530-0366, 2016, Volume 19, Issue 2, pp. 209 - 214
Journal Article
Molecular psychiatry, ISSN 1476-5578, 2012, Volume 17, Issue 9, pp. 875 - 879
Journal Article
by Shashi, Vandana and Schoch, Kelly and Spillmann, Rebecca and Cope, Heidi and Tan, Queenie K.-G and Walley, Nicole and Pena, Loren and McConkie-Rosell, Allyn and Jiang, Yong-Hui and Stong, Nicholas and Need, Anna C and Goldstein, David B and Adams, David R and Alejandro, Mercedes E and Allard, Patrick and Ashley, Euan A and Azamian, Mahshid S and Bacino, Carlos A and Balasubramanyam, Ashok and Barseghyan, Hayk and Batzli, Gabriel F and Beggs, Alan H and Behnam, Babak and Bellen, Hugo J and Bernstein, Jonathan A and Bican, Anna and Bick, David P and Birch, Camille L and Bonner, Devon and Boone, Braden E and Bostwick, Bret L and Briere, Lauren C and Brown, Donna M and Brush, Matthew and Burke, Elizabeth A and Burrage, Lindsay C and Butte, Manish J and Chen, Shan and Clark, Gary D and Coakley, Terra R and Cogan, Joy D and Cooper, Cynthia M and Cope, Heidi and Craigen, William J and D’Souza, Precilla and Davids, Mariska and Davidson, Jean M and Dayal, Jyoti G and Dell’Angelica, Esteban C and Dhar, Shweta U and Dipple, Katrina M and Donnell-Fink, Laurel A and Dorrani, Naghmeh and Dorset, Daniel C and Douine, Emilie D and Draper, David D and Dries, Annika M and Eckstein, David J and Emrick, Lisa T and Eng, Christine M and Enns, Gregory M and Eskin, Ascia and Esteves, Cecilia and Estwick, Tyra and Fernandez, Liliana and Ferreira, Carlos and Fisher, Paul G and Fogel, Brent L and Friedman, Noah D and Gahl, William A and Glanton, Emily and Godfrey, Rena A and Goldstein, David B and Gould, Sarah E and Gourdine, Jean-Philippe F and Groden, Catherine A and Gropman, Andrea L and Haendel, Melissa and Hamid, Rizwan and Hanchard, Neil A and Handley, Lori H and Herzog, Matthew R and Holm, Ingrid A and Hom, Jason and Howerton, Ellen M and Huang, Yong and Jacob, Howard J and Jain, Mahim and Jiang, Yong-hui and Johnston, Jean M and Jones, Angela L and Koeller, David M and Kohane, Isaac S and Kohler, Jennefer N and Krasnewich, Donna M and Krieg, Elizabeth L and Krier, Joel B and Kyle, Jennifer E and Lalani, Seema R and Lau, C. Christopher and ... and Undiagnosed Dis Network and Undiagnosed Diseases Network
Genetics in medicine, ISSN 1098-3600, 01/2019, Volume 21, Issue 1, pp. 161 - 172
Journal Article