A novel mutation of KCNQ2 gene in a patient with self-limited non-familial neonatal epilepsy: A case report

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A novel mutation of KCNQ2 gene in a patient with self-limited non-familial neonatal epilepsy: A case report

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The article finds biomarkers to be able to accurately identify and predict early for patients with bone metastases is necessary. To know more about the research content, please refer to the article. |

Đang chuẩn bị liên kết để tải về tài liệu:
A novel mutation of KCNQ2 gene in a patient with self-limited non-familial neonatal epilepsy: A case report

The article finds biomarkers to be able to accurately identify and predict early for patients with bone metastases is necessary. To know more about the research content, please refer to the article. |

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Đang chuẩn bị liên kết để tải về tài liệu: A novel mutation of KCNQ2 gene in a patient with self-limited non-familial neonatal epilepsy: A case report

The article finds biomarkers to be able to accurately identify and predict early for patients with bone metastases is necessary. To know more about the research content, please refer to the article. |

TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: A case report

Case report: Maple syrup urine disease with a novel DBT gene mutation

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

Identification of a novel splicing mutation in the SLC25A13 gene from a patient with NICCD: A case report

Lethal perinatal hypophosphatasia caused by a novel compound heterozygous mutation: A case report

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 novel compound heterozygous mutation of the SMARCAL1 gene leading to mild Schimke immune-osseous dysplasia: A case report

A novel fibrillin-1 gene missense mutation associated with neonatal Marfan syndrome: A case report and review of the mutation spectrum

A novel Bruton’s tyrosine kinase gene (BTK) missense mutation in a Chinese family with X-linked agammaglobulinemia

Recurrent exercise-induced acute kidney injury by idiopathic renal hypouricemia with a novel mutation in the SLC2A9 gene and literature review

Đang chuẩn bị liên kết để tải về tài liệu:
A novel mutation of KCNQ2 gene in a patient with self-limited non-familial neonatal epilepsy: A case report