Heterozygous mutation trang 1 tải miễn phí từ TAILIEUCHUNG

"Heterozygous mutation" trang 1 - tải miễn phí từ Tailieuchung

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 84 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 33 0

Corrupted DNA-binding specificity and ectopic transcription underpin dominant neomorphic mutations in KLF/SP transcription factors

Corrupted DNA-binding specificity and ectopic transcription underpin dominant neomorphic mutations in KLF/SP transcription factors

12 40 1

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 45 0

A de novo ANK1 mutation associated to hereditary spherocytosis: A case report

A de novo ANK1 mutation associated to hereditary spherocytosis: A case report

5 33 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 76 0

Revalence and spectrum of TBX5 mutation in patients with lone atrial fibrillation

Revalence and spectrum of TBX5 mutation in patients with lone atrial fibrillation

8 80 0

Genetic investigation confirmed the clinical phenotype of congenital chloride diarrhea in a Hungarian patient: A case report

Genetic investigation confirmed the clinical phenotype of congenital chloride diarrhea in a Hungarian patient: A case report

4 83 0

Genomic analysis of a riboflavinoverproducing Ashbya gossypii mutant isolated by disparity mutagenesis

Genomic analysis of a riboflavinoverproducing Ashbya gossypii mutant isolated by disparity mutagenesis

17 7 2

Gillespie syndrome in a South Asian child: A case report with confirmation of a heterozygous mutation of the ITPR1 gene and review of the clinical and molecular features

Gillespie syndrome in a South Asian child: A case report with confirmation of a heterozygous mutation of the ITPR1 gene and review of the clinical and molecular features

5 27 0

A novel UGT1A1 gene mutation causing severe unconjugated hyperbilirubinemia: A case report

A novel UGT1A1 gene mutation causing severe unconjugated hyperbilirubinemia: A case report

3 60 0

$Case report: Rapid and durable response to PDGFR targeted therapy in a child with refractory multiple infantile myofibromatosis and a heterozygous germline mutation of the PDGFRB gene$

Case report: Rapid and durable response to PDGFR targeted therapy in a child with refractory multiple infantile myofibromatosis and a heterozygous germline mutation of the PDGFRB gene

7 45 1

PIN3 duplication may be partially responsible for TP53 haploinsufficiency

PIN3 duplication may be partially responsible for TP53 haploinsufficiency

11 43 1

The surfactant protein C mutation A116D alters cellular processing, stress tolerance, surfactant lipid composition, and immune cell activation

The surfactant protein C mutation A116D alters cellular processing, stress tolerance, surfactant lipid composition, and immune cell activation

13 30 1

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