X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (343) 343
Book Review (92) 92
Publication (49) 49
Book Chapter (10) 10
Conference Proceeding (3) 3
Dissertation (2) 2
Book / eBook (1) 1
Magazine Article (1) 1
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (261) 261
humans (197) 197
mutation (116) 116
genetics & heredity (92) 92
genomics (84) 84
genes (78) 78
male (74) 74
female (73) 73
genetic aspects (72) 72
targeted resequencing (67) 67
analysis (63) 63
animals (59) 59
genetics (58) 58
research (58) 58
genomes (56) 56
oncology (50) 50
genetic research (49) 49
cancer (46) 46
article (45) 45
next-generation sequencing (45) 45
dna sequencing (42) 42
mutations (42) 42
molecular targeted therapy (40) 40
high-throughput nucleotide sequencing (39) 39
adult (38) 38
phenotype (37) 37
nucleotide sequencing (36) 36
biotechnology & applied microbiology (35) 35
high-throughput nucleotide sequencing - methods (35) 35
sequence analysis, dna (35) 35
targeted sequencing (35) 35
gene mutations (34) 34
genetic variation (34) 34
biochemistry & molecular biology (33) 33
deoxyribonucleic acid--dna (33) 33
dna (33) 33
genetic predisposition to disease (32) 32
sequence analysis, dna - methods (32) 32
diagnosis (29) 29
health aspects (29) 29
targeted therapy (29) 29
gene (28) 28
genotype (27) 27
middle aged (27) 27
polymorphism, single nucleotide (27) 27
care and treatment (25) 25
child (25) 25
identification (25) 25
research article (25) 25
biotechnology (24) 24
gene expression (24) 24
genome (24) 24
variants (24) 24
adolescent (23) 23
child, preschool (23) 23
disease (22) 22
genetic testing (22) 22
medicine (22) 22
exome (21) 21
exons (21) 21
dna mutational analysis (20) 20
expression (20) 20
genome-wide association study (20) 20
aged (19) 19
medicine, research & experimental (19) 19
multidisciplinary sciences (19) 19
pedigree (19) 19
usage (19) 19
association (18) 18
bioinformatics (18) 18
enrichment (18) 18
medicine & public health (18) 18
proteins (18) 18
single nucleotide polymorphisms (18) 18
targeted mutagenesis (18) 18
genome-wide association (17) 17
infant (17) 17
methods (17) 17
next generation sequencing (17) 17
pathology (17) 17
biochemical research methods (16) 16
capture (16) 16
development and progression (16) 16
genetic screening (16) 16
polymerase chain reaction (16) 16
review (16) 16
risk factors (16) 16
targeted enrichment (16) 16
alleles (15) 15
cell biology (15) 15
evolution (15) 15
genetic disorders (15) 15
genome, human (15) 15
genomics - methods (15) 15
hematology (15) 15
physiological aspects (15) 15
young adult (15) 15
computational biology (14) 14
evolutionary biology (14) 14
genetic testing - methods (14) 14
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Trends in Parasitology, ISSN 1471-4922, 2017, Volume 33, Issue 5, pp. 388 - 399
Journal Article
This thesis describes the development and use of a new class of molecular tools called Selector probes, and its potential for investigations of genetic... 
Resequencing | Genetic variation | copy-number variations | Molekylär medicin (genetik och patologi) | Molecular medicine (genetics and pathology) | Next generation sequencing | Amplified single molecule | NGS | ASM | Targeted sequencing | Selector probe | MLGA | Bioinformatics | Selector
Dissertation
01/2010, ISBN 3527326049, 19
This chapter contains sections titled: Introduction Methods, Protocols, and Technical Principles Applications Perspectives References 
tSMS | true single molecule sequencing | digital gene expression | copy number variation | sequencing‐by‐synthesis | targeted resequencing | TSMS | Copy number variation | True single molecule sequencing | Digital gene expression | Targeted resequencing | Sequencing-by-synthesis
Book Chapter
Korean Journal of Audiology, ISSN 2092-9862, 2014, Volume 18, Issue 2, pp. 45 - 49
Hearing loss is one of the most common sensorineural disorder. More than half of congenital bilateral profound deafness cases have been estimated to be... 
Targeted resequencing | Molecular genetic test | Hearing loss | Review
Journal Article
遺傳性疾病主要是由於基因體異常所造成,帶有缺陷的基因會經由父母 遺傳給下一代,除此之外,也可能因為異常的減數分裂導致配子攜帶錯誤 的染色體,而生下不正常的嬰兒。遺傳性疾病的致病基因之變異型式與成 因相當複雜,而且新發現的致病突變一直在增加;隨著人類對基因體的了... 
carrier status | 次世代定序 | next generation sequencing | 標的基因片段定序 | 帶因者狀況 | 胚胎植入前診斷 | 基因異常檢測 | genetic disorder testing | genotyping array | targeted resequencing | 基因分型晶片 | preimplantation diagnosis
Dissertation
Journal Article
The Journal of Pathology, ISSN 0022-3417, 08/2015, Volume 236, Issue 4, pp. 457 - 466
Journal Article
Journal Article