"Heterozygous mutation" trang 1 - tải miễn phí từ tailieunhanh
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    99    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
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    56    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    52    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    39    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
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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    89    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
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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    14    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    36    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    66    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    54    1
PIN3 duplication may be partially responsible for TP53 haploinsufficiency

PIN3 duplication may be partially responsible for TP53 haploinsufficiency
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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    41    1
Direct sequencing of β-globin gene reveals a rare combination of two exonic and two intronic variants in a β-thalassemia major patient: A case report

Direct sequencing of β-globin gene reveals a rare combination of two exonic and two intronic variants in a β-thalassemia major patient: A case report
5    1    1
A novel ADAMTSL4 compound heterozygous mutation in isolated ectopia lentis: A case report and review of the literature

A novel ADAMTSL4 compound heterozygous mutation in isolated ectopia lentis: A case report and review of the literature
7    8    1