지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2018.1
- 수록면
- 1,008 - 1,009 (2page)
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참고문헌 (11)
참고문헌 신청
김기태 / 2018 / Two Korean Families with Limb-Girdle Muscular Dystrophy Type 1D Associated with DNAJB6 Mutations / Yonsei Medical Journal 59(5):698~701
Ruggieri A / 2015 / Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy / Acta Neuropathol Commun 3:44
Suarez-Cedeno G / 2014 / DNAJB6 myopathy: a vacuolar myopathy with childhood onset / Muscle Nerve 49:607~610
Nam TS / 2015 / A novel mutation in DNAJB6, p.(Phe91Leu), in childhood-onset LGMD1D with a severe phenotype / Neuromuscul Disord 25:843~851
Sarparanta J / 2012 / Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy / Nat Genet 44:450~455
Ruggieri A / 2015 / Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy / Acta Neuropathol Commun 3:44
Suarez-Cedeno G / 2014 / DNAJB6 myopathy: a vacuolar myopathy with childhood onset / Muscle Nerve 49:607~610
Nam TS / 2015 / A novel mutation in DNAJB6, p.(Phe91Leu), in childhood-onset LGMD1D with a severe phenotype / Neuromuscul Disord 25:843~851
Sarparanta J / 2012 / Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy / Nat Genet 44:450~455
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The Author Reply: Genotypic and Phenotypic Heterogeneity of LGMD1D due to DNAJB6 Mutations
Yonsei Medical Journal
2018 .01
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Two Korean Families with Limb-Girdle Muscular Dystrophy Type 1D Associated with DNAJB6 Mutations
Yonsei Medical Journal
2018 .01
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LGMD2E with a novel nonsense variant in SGCB gene: a case of LGMD2E with a novel variant
Annals of Clinical Neurophysiology
2020 .01
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초기 척추관절병증과 혼동되었던 체간 근육의 위약을 동반한 근지대형 근디스트로피, 2A형: 증례 보고
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2019 .01
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Phenotypic and Genotypic Analysis of Anti-Tuberculosis Drug Resistance in Mycobacterium tuberculosis Isolates in Myanmar
Annals of Laboratory Medicine
2015 .01
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A Patient With Late-onset Limb-girdle Muscular Dystrophy Type 2B Mimicking Dermatomyositis: A Case Report and Review
대한류마티스학회지
2021 .01
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Wide Phenotypic Spectrum of PNMHH Patients With p.R941L Mutation in MYH14
Journal of Clinical Neurology
2022 .03
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Novel Germline Mutations of BRCA1 and BRCA2 in Korean Familial Breast Cancer Patients
전남의대학술지
2019 .01
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Genotypic and Phenotypic Characteristics of Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Korean Patients
Annals of Laboratory Medicine
2021 .01
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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
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Prevalence of PALB2 Germline Mutations in Early-onset and Familial Breast/Ovarian Cancer Patients from Pakistan
Cancer Research and Treatment
2019 .01
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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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A familial case of limb-girdle muscular dystrophy with CAV3 mutation
Journal of genetic medicine
2019 .01
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Incidence, Clinical Features, and Prognostic Impact of CALR Exon 9 Mutations in Essential Thrombocythemia and Primary Myelofibrosis: An Experience of a Single Tertiary Hospital in Korea
Annals of Laboratory Medicine
2015 .01
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Correlation between GenoType MTBDRplus Assay and Phenotypic Susceptibility Test for Prothionamide in Patients with Genotypic Isoniazid Resistance
Tuberculosis and Respiratory Diseases
2019 .01
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Mutation Analysis of IDH1/2 Genes in Unselected De novo Acute Myeloid Leukaemia Patients in India - Identification of A Novel IDH2 Mutation
Asian Pacific journal of cancer prevention : APJCP
2015 .01
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Phenotypic Features of Cerebral Autosomal-Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Subjects with R544C Mutation
Dementia and Neurocognitive Disorders(대한치매학회지)
2016 .01
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HER2 Status and Its Heterogeneity in Gastric Carcinoma of Vietnamese Patient
Journal of Pathology and Translational Medicine
2017 .07
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Rare Phenotypic Manifestations of MELAS
Yonsei Medical Journal
2020 .01
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Types of 23S Ribosomal RNA Point Mutations and Therapeutic Outcomes for Helicobacter pylori
Gut and Liver
2021 .01
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