exome sequencing trang 5 tải miễn phí từ TAILIEUCHUNG

"exome sequencing" trang 5 - tải miễn phí từ Tailieuchung

Comprehensive genomic profiling aids in understanding the lesion origins of a patient with six synchronous invasive lung adenocarcinomas: A case study

Comprehensive genomic profiling aids in understanding the lesion origins of a patient with six synchronous invasive lung adenocarcinomas: A case study

6 26 1

Novel genetic variant of HPS1 gene in Hermansky-Pudlak syndrome with fulminant progression of pulmonary fibrosis: A case report

Novel genetic variant of HPS1 gene in Hermansky-Pudlak syndrome with fulminant progression of pulmonary fibrosis: A case report

6 9 1

Novel compound heterozygous mutations of DNAH5 identifed in a pediatric patient with Kartagener syndrome: Case report and literature review

Novel compound heterozygous mutations of DNAH5 identifed in a pediatric patient with Kartagener syndrome: Case report and literature review

6 14 1

New insights into the generation and role of de novo mutations in health and disease

New insights into the generation and role of de novo mutations in health and disease

19 8 3

Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes

Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes

13 13 3

SynthEx: A synthetic-normal-based DNA sequencing tool for copy number alteration detection and tumor heterogeneity profiling

SynthEx: A synthetic-normal-based DNA sequencing tool for copy number alteration detection and tumor heterogeneity profiling

14 17 3

VARS1 mutations associated with neurodevelopmental disorder are located on a short amino acid stretch of the anticodon-binding domain

VARS1 mutations associated with neurodevelopmental disorder are located on a short amino acid stretch of the anticodon-binding domain

12 4 1

Prenatal findings in a fetus with X-linked recessive type of chondrodysplasia punctata (CDPX1): A case report with novel mutation

Prenatal findings in a fetus with X-linked recessive type of chondrodysplasia punctata (CDPX1): A case report with novel mutation

6 74 0

TP53 and PTEN mutations were shared in concurrent germ cell tumor and acute megakaryoblastic leukemia

TP53 and PTEN mutations were shared in concurrent germ cell tumor and acute megakaryoblastic leukemia

8 51 0

An unusual hematopoietic stem cell transplantation for donor acute lymphoblastic leukemia: A case report

An unusual hematopoietic stem cell transplantation for donor acute lymphoblastic leukemia: A case report

5 80 0

Substantial batch effects in TCGA exome sequences undermine pan-cancer analysis of germline variants

Substantial batch effects in TCGA exome sequences undermine pan-cancer analysis of germline variants

10 54 0

Identification of p.HIS119LEU mutation in the G6PC gene of a Vietnamese patient with glycogen storage disease type Ia

Identification of p.HIS119LEU mutation in the G6PC gene of a Vietnamese patient with glycogen storage disease type Ia

8 38 1

Germline variation networks in the PI3K/ AKT pathway corresponding to familial high-incidence lung cancer pedigrees

Germline variation networks in the PI3K/ AKT pathway corresponding to familial high-incidence lung cancer pedigrees

10 30 1

Bài giảng Rối loạn dự trữ Glycogen type IX

Bài giảng Rối loạn dự trữ Glycogen type IX

16 45 1

Genomic signature of MTOR could be an immunogenicity marker in human colorectal cancer

Genomic signature of MTOR could be an immunogenicity marker in human colorectal cancer

21 8 1

Exome profiling of primary, metastatic and recurrent ovarian carcinomas in a BRCA1-positive patient

Exome profiling of primary, metastatic and recurrent ovarian carcinomas in a BRCA1-positive patient

11 28 1

Exome scale map of genetic alterations promoting metastasis in colorectal cancer

Exome scale map of genetic alterations promoting metastasis in colorectal cancer

9 1 1

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