"novel mutation" trang 3 - tải miễn phí từ tailieuXANH
GM2 gangliosidosis AB variant: Novel mutation from India – a case report with a review

GM2 gangliosidosis AB variant: Novel mutation from India – a case report with a review
5    42    0
Cyclic neutropenia with a novel gene mutation presenting with a necrotizing soft tissue infection and severe sepsis: Case report

Cyclic neutropenia with a novel gene mutation presenting with a necrotizing soft tissue infection and severe sepsis: Case report
4    41    0
Atypical X-linked agammaglobulinaemia caused by a novel BTK mutation in a selective immunoglobulin M deficiency patient

Atypical X-linked agammaglobulinaemia caused by a novel BTK mutation in a selective immunoglobulin M deficiency patient
6    42    0
Lethal course of meconium ileus in preterm twins revealing a novel cystic fibrosis mutation (p.Cys524Tyr)

Lethal course of meconium ileus in preterm twins revealing a novel cystic fibrosis mutation (p.Cys524Tyr)
5    35    0
A novel point mutation in RpoB improves osmotolerance and succinic acid production in Escherichia coli

A novel point mutation in RpoB improves osmotolerance and succinic acid production in Escherichia coli
11    45    0
Eosinophilic colitis in a boy with a novel XIAP mutation: A case report

Eosinophilic colitis in a boy with a novel XIAP mutation: A case report
7    76    0
Molecular genetic characterization reveals linear tumor evolution in a pulmonary sarcomatoid carcinomas patient with a novel PHF20-NTRK1 fusion: A case report

Molecular genetic characterization reveals linear tumor evolution in a pulmonary sarcomatoid carcinomas patient with a novel PHF20-NTRK1 fusion: A case report
5    54    0
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    47    0
A novel somatic mutation in ACD induces telomere lengthening and apoptosis resistance in leukemia cells

A novel somatic mutation in ACD induces telomere lengthening and apoptosis resistance in leukemia cells
8    58    0
Identification of novel driver mutations of the discoidin domain receptor 2 (DDR2) gene in squamous cell lung cancer of Chinese patients

Identification of novel driver mutations of the discoidin domain receptor 2 (DDR2) gene in squamous cell lung cancer of Chinese patients
10    43    0
A novel deleterious PTEN mutation in a patient with early-onset bilateral breast cancer

A novel deleterious PTEN mutation in a patient with early-onset bilateral breast cancer
6    95    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
TNER: A novel background error suppression method for mutation detection in circulating tumor DNA

TNER: A novel background error suppression method for mutation detection in circulating tumor DNA
7    92    0
A novel tp53-associated nomogram to predict the overall survival in patients with pancreatic cancer

A novel tp53-associated nomogram to predict the overall survival in patients with pancreatic cancer
15    41    1
Recurrent pneumothorax and intrapulmonary cavitary lesions in a male patient with vascular Ehlers-Danlos syndrome and a novel missense mutation in the COL3A1 gene: A case report

Recurrent pneumothorax and intrapulmonary cavitary lesions in a male patient with vascular Ehlers-Danlos syndrome and a novel missense mutation in the COL3A1 gene: A case report
7    116    1
Rapid disease progress in a PVOD patient carrying a novel EIF2AK4 mutation: A case report

Rapid disease progress in a PVOD patient carrying a novel EIF2AK4 mutation: A case report
5    39    1
Birt–Hogg–Dubé syndrome: A literature review and case study of a Chinese woman presenting a novel FLCN mutation

Birt–Hogg–Dubé syndrome: A literature review and case study of a Chinese woman presenting a novel FLCN mutation
6    36    1
A novel mutation of KCNQ2 gene in a patient with self-limited non-familial neonatal epilepsy: A case report

A novel mutation of KCNQ2 gene in a patient with self-limited non-familial neonatal epilepsy: A case report
8    42    1
A novel missense mutation in the gene encoding major intrinsic protein (MIP) in a Giant panda with unilateral cataract formation

A novel missense mutation in the gene encoding major intrinsic protein (MIP) in a Giant panda with unilateral cataract formation
10    26    1
FBXO32, encoding a member of the SCF complex, is mutated in dilated cardiomyopathy

FBXO32, encoding a member of the SCF complex, is mutated in dilated cardiomyopathy
11    204    1
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