"gene mutation" trang 2 - tải miễn phí từ tailieunhanh
Study on rate and some risk factors for egfr mutation in 152 patients with lung adenocarcinoma at Bachmai hospital

Study on rate and some risk factors for egfr mutation in 152 patients with lung adenocarcinoma at Bachmai hospital
5    76    0
Lethal perinatal hypophosphatasia caused by a novel compound heterozygous mutation: A case report

Lethal perinatal hypophosphatasia caused by a novel compound heterozygous mutation: A case report
5    42    0
TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: A case report

TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: A case report
6    52    0
A novel compound heterozygous mutation of the SMARCAL1 gene leading to mild Schimke immune-osseous dysplasia: A case report

A novel compound heterozygous mutation of the SMARCAL1 gene leading to mild Schimke immune-osseous dysplasia: A case report
6    84    0
A novel fibrillin-1 gene missense mutation associated with neonatal Marfan syndrome: A case report and review of the mutation spectrum

A novel fibrillin-1 gene missense mutation associated with neonatal Marfan syndrome: A case report and review of the mutation spectrum
6    57    0
A novel Bruton’s tyrosine kinase gene (BTK) missense mutation in a Chinese family with X-linked agammaglobulinemia

A novel Bruton’s tyrosine kinase gene (BTK) missense mutation in a Chinese family with X-linked agammaglobulinemia
5    91    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    98    0
Pneumatosis intestinalis induced by osimertinib in a patient with lung adenocarcinoma harbouring epidermal growth factor receptor gene mutation with simultaneously detected exon 19 deletion and T790 M point mutation: A case report

Pneumatosis intestinalis induced by osimertinib in a patient with lung adenocarcinoma harbouring epidermal growth factor receptor gene mutation with simultaneously detected exon 19 deletion and T790 M point mutation: A case report
7    37    1
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    73    1
Prognostic analysis of patients with nonsmall cell lung cancer harboring exon 19 or 21 mutation in the epidermal growth factor gene and brain metastases

Prognostic analysis of patients with nonsmall cell lung cancer harboring exon 19 or 21 mutation in the epidermal growth factor gene and brain metastases
10    36    1
A mutation screening of oncogenes, tumor suppressor gene TP53 and nuclear encoded mitochondrial complex I genes in oncocytic thyroid tumors

A mutation screening of oncogenes, tumor suppressor gene TP53 and nuclear encoded mitochondrial complex I genes in oncocytic thyroid tumors
7    52    1
BRCA1 germline mutation and glioblastoma development: Report of cases

BRCA1 germline mutation and glioblastoma development: Report of cases
7    52    1
Hierarchical cluster analysis of immunophenotype classify AML patients with NPM1 gene mutation into two groups with distinct prognosis

Hierarchical cluster analysis of immunophenotype classify AML patients with NPM1 gene mutation into two groups with distinct prognosis
9    55    1
A case of lung adenocarcinoma harboring EGFR mutation and EML4-ALK fusion gene

A case of lung adenocarcinoma harboring EGFR mutation and EML4-ALK fusion gene
4    53    1
Pure exercise intolerance and ophthalmoplegia associated with the m.12,294G > A mutation in the MT-TL2 gene: A case report

Pure exercise intolerance and ophthalmoplegia associated with the m.12,294G > A mutation in the MT-TL2 gene: A case report
6    21    1
A nonsense mutation in the COL7A1 gene causes epidermolysis bullosa in Vorderwald cattle

A nonsense mutation in the COL7A1 gene causes epidermolysis bullosa in Vorderwald cattle
9    12    1
Progressive multifocal leukoencephalopathy in a patient with novel mutation in the RAC2 gene: A case report

Progressive multifocal leukoencephalopathy in a patient with novel mutation in the RAC2 gene: A case report
5    1    1
Severe congenital neutropenia caused by the elane gene mutation in a 4-year-old Vietnamese girl

Severe congenital neutropenia caused by the elane gene mutation in a 4-year-old Vietnamese girl
6    1    1
MicroRNA-425-5p expression affects BRAF/RAS/MAPK pathways in colorectal cancers

MicroRNA-425-5p expression affects BRAF/RAS/MAPK pathways in colorectal cancers
12    48    0
A novel nonsense mutation in the tyrosinase gene is related to the albinism in a capuchin monkey (Sapajus apella)

A novel nonsense mutation in the tyrosinase gene is related to the albinism in a capuchin monkey (Sapajus apella)
6    8    1