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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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논문 유사도에 따라 DBpia 가 추천하는 논문입니다. 함께 보면 좋을 연관 논문을 확인해보세요!
A recurrent case of SCN4A related Paramyotonia congenita in two Korean brothers: a case report
Annals of Clinical Neurophysiology
2024 .04
Requirement of β subunit for the reduced voltage-gated Na+ current of a Brugada syndrome patient having novel double missense mutation (p.A385T/R504T) of SCN5A
The Korean Journal of Physiology & Pharmacology
2024 .07
드라베 증후군의 SCN1A 유전자 변이 양상
대한소아신경학회지
2017 .01
Efficacy of Stiripentol in Dravet Syndrome with or without SCN1A Mutations
Journal of Clinical Neurology
2018 .01
A Case of SCN5A Mutation-Associated Isolated Left Atrial Standstill and Ischemic Stroke
Korean Circulation Journal
2022 .09
Characteristics of Low Back Pain due to Superior Cluneal Nerve Entrapment Neuropathy
Asian Spine Journal
2019 .01
Ketogenic Diet in Infants with Early-Onset Epileptic Encephalopathy and SCN2A Mutation
Yonsei Medical Journal
2021 .01
A novel variant in NR0B1 causing X-linked adrenal hypoplasia congenita
Annals of Pediatirc Endocrinology & Metabolism
2024 .06
A Familial Case of Aplasia Cutis Congenita in Two Korean Siblings: A Review of Genetic Aspects
Annals of Dermatology
2017 .01
Genetic Diagnosis in Neonatal Encephalopathy With Hypoxic Brain Damage Using Targeted Gene Panel Sequencing
Journal of Clinical Neurology
2024 .09
SCN1A Gene Mutation and Adaptive Functioning in 18 Vietnamese Children with Dravet Syndrome
Journal of Clinical Neurology
2017 .01
Identification of a novel point mutation in DAX-1 gene in a patient with adrenal hypoplasia congenita
Annals of Pediatirc Endocrinology & Metabolism
2021 .01
Electrophysiological characteristics of R47W and A298T mutations in CLC-1 of myotonia congenita patients and evaluation of clinical features
The Korean Journal of Physiology & Pharmacology
2017 .07
Te Overlap between Fibromyalgia Syndrome and Myotonia Congenita
Journal of Clinical Neurology
2015 .01
Clinicoradiological features of resected serous cystic neoplasms according to morphological subtype and preoperative tentative diagnosis: can radiological characteristics distinguish serous cystic neoplasms from other lesions?
Annals of Surgical Treatment and Research
2020 .05
Novel Germline Mutations of BRCA1 and BRCA2 in Korean Familial Breast Cancer Patients
전남의대학술지
2019 .01
Ischemic Proliferative Retinopathy in a Korean Patient with Cutis Marmorata Telangiectatica Congenita: A Case Report
Korean Journal of Ophthalmology
2022 .12
The Association of Acquired T790M Mutation with Clinical Characteristics after Resistance to First-Line Epidermal Growth Factor Receptor Tyrosine Kinase Inhibitor in Lung Adenocarcinoma
Cancer Research and Treatment
2018 .01
Prevalence of PALB2 Germline Mutations in Early-onset and Familial Breast/Ovarian Cancer Patients from Pakistan
Cancer Research and Treatment
2019 .01
Congenital hypothyroidism due to thyroglobulin deficiency: a case report with a novel mutation in TG gene
Annals of Pediatirc Endocrinology & Metabolism
2019 .01
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