"exome sequencing" trang 4 - tải miễn phí từ tailieuXANH
Báo cáo y học:

Báo cáo y học: "Exome sequencing identifies a missense mutation in Isl1 associated with low penetrance otitis media in dearisch mice"
19    49    0
Báo cáo y học:

Báo cáo y học: "SHROOM3 is a novel candidate for heterotaxy identified by whole exome sequencing"
36    39    0
Báo cáo y học:

Báo cáo y học: "Exome sequencing identifies a novel missense variant in RRM2B associated with autosomal recessive progressive external ophthalmoplegia"
7    72    0
Báo cáo y học:

Báo cáo y học: "Comparison of solution-based exome capture methods for next generation sequencing"
18    54    0
A de novo SCN8A heterozygous mutation in a child with epileptic encephalopathy: A case report

A de novo SCN8A heterozygous mutation in a child with epileptic encephalopathy: A case report
6    69    0
A germline mutation in Rab43 gene identified from a cancer family predisposes to a hereditary liver-colon cancer syndrome

A germline mutation in Rab43 gene identified from a cancer family predisposes to a hereditary liver-colon cancer syndrome
11    76    0
Hereditary characteristics of the S339L mutation in a patient with maple syrup urine disease in Vietnam

Hereditary characteristics of the S339L mutation in a patient with maple syrup urine disease in Vietnam
7    71    0
Characterization of genetic aberrations in a single case of metastatic thymic adenocarcinoma

Characterization of genetic aberrations in a single case of metastatic thymic adenocarcinoma
12    100    0
Comparative sequence analysis of patientmatched primary colorectal cancer, metastatic, and recurrent metastatic tumors after adjuvant FOLFOX chemotherapy

Comparative sequence analysis of patientmatched primary colorectal cancer, metastatic, and recurrent metastatic tumors after adjuvant FOLFOX chemotherapy
11    49    0
First insight into the somatic mutation burden of neurofibromatosis type 2- associated grade I and grade II meningiomas: A case report comprehensive genomic study of two cranial meningiomas with vastly different clinical presentation

First insight into the somatic mutation burden of neurofibromatosis type 2- associated grade I and grade II meningiomas: A case report comprehensive genomic study of two cranial meningiomas with vastly different clinical presentation
10    72    0
Shifting patterns of genomic variation in the somatic evolution of papillary thyroid carcinoma

Shifting patterns of genomic variation in the somatic evolution of papillary thyroid carcinoma
9    51    0
At least two well-spaced samples are needed to genotype a solid tumor

At least two well-spaced samples are needed to genotype a solid tumor
8    51    0
Systematic drug screening reveals specific vulnerabilities and co-resistance patterns in endocrine-resistant breast cancer

Systematic drug screening reveals specific vulnerabilities and co-resistance patterns in endocrine-resistant breast cancer
17    69    0
Somatic loss of function mutations in neurofibromin 1 and MYC associated factor X genes identified by exome-wide sequencing in a wild-type GIST case

Somatic loss of function mutations in neurofibromin 1 and MYC associated factor X genes identified by exome-wide sequencing in a wild-type GIST case
9    59    0
Whole-exome sequencing of a rare case of familial childhood acute lymphoblastic leukemia reveals putative predisposing mutations in Fanconi anemia genes

Whole-exome sequencing of a rare case of familial childhood acute lymphoblastic leukemia reveals putative predisposing mutations in Fanconi anemia genes
9    71    0
Lower PRDM2 expression is associated with dopamine-agonist resistance and tumor recurrence in prolactinomas

Lower PRDM2 expression is associated with dopamine-agonist resistance and tumor recurrence in prolactinomas
10    48    0
Genome instability in blood cells of a BRCA1+ breast cancer family

Genome instability in blood cells of a BRCA1+ breast cancer family
10    48    0
MutEnricher: A flexible toolset for somatic mutation enrichment analysis of tumor whole genomes

MutEnricher: A flexible toolset for somatic mutation enrichment analysis of tumor whole genomes
8    57    0
Evaluation of variant calling tools for large plant genome re-sequencing

Evaluation of variant calling tools for large plant genome re-sequencing
16    45    0
Cancerouspdomains: Comprehensive analysis of cancer type-specific recurrent somatic mutations in proteins and domains

Cancerouspdomains: Comprehensive analysis of cancer type-specific recurrent somatic mutations in proteins and domains
18    209    0
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