"gene mutation" trang 8 - tải miễn phí từ tailieunhanh
A novel mechanism for variable phenotypic expressivity in Mendelian diseases uncovered by an AU-rich element (ARE)- creating mutation

A novel mechanism for variable phenotypic expressivity in Mendelian diseases uncovered by an AU-rich element (ARE)- creating mutation
10    48    1
Generation and molecular characteristics of a highly attenuated GPV strain through adaptation in GEF cells

Generation and molecular characteristics of a highly attenuated GPV strain through adaptation in GEF cells
7    16    1
The relationship between polycyclic aromatic hydrocarbons exposure and serum klotho among adult population

The relationship between polycyclic aromatic hydrocarbons exposure and serum klotho among adult population
7    15    1
Increased expression of Nrf2 and elevated glucose uptake in pheochromocytoma and paraganglioma with SDHB gene mutation

Increased expression of Nrf2 and elevated glucose uptake in pheochromocytoma and paraganglioma with SDHB gene mutation
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Research on KRAS mutations in patients with colorectal polyps larger than 10 mm

Research on KRAS mutations in patients with colorectal polyps larger than 10 mm
11    9    1
Genome sequencing reveals a splice donor site mutation in the SNX14 gene associated with a novel cerebellar cortical degeneration in the Hungarian Vizsla dog breed

Genome sequencing reveals a splice donor site mutation in the SNX14 gene associated with a novel cerebellar cortical degeneration in the Hungarian Vizsla dog breed
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Development and characterization of low α-linolenic acid Brassica oleracea lines bearing a novel mutation in a ‘class a’ FATTY ACID DESATURASE 3 gene

Development and characterization of low α-linolenic acid Brassica oleracea lines bearing a novel mutation in a ‘class a’ FATTY ACID DESATURASE 3 gene
11    14    1
Detection of c.G2194A mutation in ar gene of a Vietnamese patient with androgen insensitivity syndrome: A case report

Detection of c.G2194A mutation in ar gene of a Vietnamese patient with androgen insensitivity syndrome: A case report
8    2    1
Prenatal genetic diagnosis of retinoblastoma in two Vietnamese families

Prenatal genetic diagnosis of retinoblastoma in two Vietnamese families
6    1    1
BRCA genes as candidates for colorectal cancer genetic testing panel: Systematic review and meta-analysis

BRCA genes as candidates for colorectal cancer genetic testing panel: Systematic review and meta-analysis
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Deep learning-based multifeature integration robustly predicts central lymph node metastasis in papillary thyroid cancer

Deep learning-based multifeature integration robustly predicts central lymph node metastasis in papillary thyroid cancer
17    1    1
De novo KAT6B mutation causes Say– Barber–Biesecker–Young–Simpson variant of Ohdo syndrome in an Iranian boy: A case report

De novo KAT6B mutation causes Say– Barber–Biesecker–Young–Simpson variant of Ohdo syndrome in an Iranian boy: A case report
7    8    1
Mutation analysis of DJ-1 gene in Vietnamese Parkinson’s disease patients

Mutation analysis of DJ-1 gene in Vietnamese Parkinson’s disease patients
7    56    0
A family of Melnick-Needles syndrome: A case report

A family of Melnick-Needles syndrome: A case report
6    26    1
Gene promoter and exon DNA methylation changes in colon cancer development – mRNA expression and tumor mutation alterations

Gene promoter and exon DNA methylation changes in colon cancer development – mRNA expression and tumor mutation alterations
14    44    1
A novel splicing site IRP1 somatic mutation in a patient with pheochromocytoma and JAK2V617F positive polycythemia vera: A case report

A novel splicing site IRP1 somatic mutation in a patient with pheochromocytoma and JAK2V617F positive polycythemia vera: A case report
6    49    1
Outcomes of Pemetrexed-based chemotherapies in HER2-mutant lung cancers

Outcomes of Pemetrexed-based chemotherapies in HER2-mutant lung cancers
7    38    1
TP53 p.R337H is a conditional cancer-predisposing mutation: Further evidence from a homozygous patient

TP53 p.R337H is a conditional cancer-predisposing mutation: Further evidence from a homozygous patient
8    46    1
Mutant TP53 G245C and R273H promote cellular malignancy in esophageal squamous cell carcinoma

Mutant TP53 G245C and R273H promote cellular malignancy in esophageal squamous cell carcinoma
11    63    1
Simultaneous mutations of LAMB2 and NPHP1genes in a Chinese girl with isolated congenital nephrotic syndrome: A case report

Simultaneous mutations of LAMB2 and NPHP1genes in a Chinese girl with isolated congenital nephrotic syndrome: A case report
7    38    0