"Novel mutation" trang 1 - tải miễn phí từ tailieuXANH
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    70    0
Case report: Maple syrup urine disease with a novel DBT gene mutation

Case report: Maple syrup urine disease with a novel DBT gene mutation
5    62    0
Báo cáo khoa học: Two novel variants of human medium chain acyl-CoA dehydrogenase (MCAD) K364R, a folding mutation, and R256T, a catalytic-site mutation resulting in a well-folded but totally inactive protein

Báo cáo khoa học: Two novel variants of human medium chain acyl-CoA dehydrogenase (MCAD) K364R, a folding mutation, and R256T, a catalytic-site mutation resulting in a well-folded but totally inactive protein
9    36    0
Identification of a novel splicing mutation in the SLC25A13 gene from a patient with NICCD: A case report

Identification of a novel splicing mutation in the SLC25A13 gene from a patient with NICCD: A case report
5    53    1
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    75    0
A case report of reversible generalized seizures in a patient with Waardenburg syndrome associated with a novel nonsense mutation in the penultimate exon of SOX10

A case report of reversible generalized seizures in a patient with Waardenburg syndrome associated with a novel nonsense mutation in the penultimate exon of SOX10
4    48    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    68    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    55    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    50    0
Recurrent exercise-induced acute kidney injury by idiopathic renal hypouricemia with a novel mutation in the SLC2A9 gene and literature review

Recurrent exercise-induced acute kidney injury by idiopathic renal hypouricemia with a novel mutation in the SLC2A9 gene and literature review
7    84    0
EGFR mutation: Novel prognostic factor associated with immune infiltration in lower-grade glioma; an exploratory study

EGFR mutation: Novel prognostic factor associated with immune infiltration in lower-grade glioma; an exploratory study
13    63    0
A germline mutation of CDKN2A and a novel RPLP1-C19MC fusion detected in a rare melanotic neuroectodermal tumor of infancy: A case report

A germline mutation of CDKN2A and a novel RPLP1-C19MC fusion detected in a rare melanotic neuroectodermal tumor of infancy: A case report
14    40    0
Highly sensitive detection of the PIK3CAH1047R mutation in colorectal cancer using a novel PCR-RFLP method

Highly sensitive detection of the PIK3CAH1047R mutation in colorectal cancer using a novel PCR-RFLP method
11    52    0
Phenotypic Heterogeneity in a DFNA20/26 family segregating a novel ACTG1 mutation

Phenotypic Heterogeneity in a DFNA20/26 family segregating a novel ACTG1 mutation
11    2    1
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    85    0
Novel germline mutations and unclassified variants of BRCA1 and BRCA2 genes in Chinese women with familial breast/ovarian cancer

Novel germline mutations and unclassified variants of BRCA1 and BRCA2 genes in Chinese women with familial breast/ovarian cancer
9    67    0
Novel homozygous BMP9 nonsense mutation causes pulmonary arterial hypertension: A case report

Novel homozygous BMP9 nonsense mutation causes pulmonary arterial hypertension: A case report
4    27    1
Novel technique for rapid detection of a-globin gene mutations and deletions

Novel technique for rapid detection of a-globin gene mutations and deletions
8    36    0
Báo cáo y học:

Báo cáo y học: "Familial Polycythemia Caused by a Novel Mutation in the Beta Globin Gene: Essential Role of P50 in Evaluation of Familial Polycythemi"
5    62    0
báo cáo khoa học:

báo cáo khoa học: "Bilateral adrenocortical carcinoma in a patient with multiple endocrine neoplasia type 1 (MEN1) and a novel mutation in the MEN1 gene"
7    40    0
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