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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!
Autosomal Recessive Spinocerebellar Ataxia Caused by a Novel Homozygous ANO10 Mutation in a Consanguineous Chinese Family
Journal of Clinical Neurology
2020 .01
Dystonia Responsive to Dopamine: POLG Mutations Should Be Considered If Sensory Neuropathy Is Present
Journal Of Movement Disorders
2021 .01
A homozygous mutation in the insulin gene (INS) causing autosomal recessive neonatal diabetes in Saudi families
Annals of Pediatirc Endocrinology & Metabolism
2020 .01
Mutations in GJB2 as Major Causes of Autosomal Recessive Non-Syndromic Hearing Loss: First Report of c.299-300delAT Mutation in Kurdish Population of Iran
Journal of Audiology & Otology
2019 .01
Evaluation of Genetic Analysis with Autosomal Recessive Bestrophinopathy
Journal of Retina
2019 .01
Mitochondrial Ophthalmoplegia Is Not Only due to mtDNA Deletions
Yonsei Medical Journal
2019 .01
Co-Occurrence of Autosomal Recessive Lamellar Ichthyosis and X-Linked Recessive Ichthyosis in a Consanguineous Pakistani Family
Annals of Dermatology
2019 .01
A Study on Factors Affecting the Self-Concepts in Children and Adolescents with Epilepsy
대한소아청소년정신의학회 학술대회논문집
2017 .05
Mutation Cases in the Korean Population using 23 Autosomal STR Loci Analysis
대한의생명과학회지
2021 .06
Newly Detected PKHD1 Gene Mutation in a Newborn with Fatal Autosomal Recessive Polycystic Kidney Disease
Neonatal medicine
2015 .01
The Author Reply: Mitochondrial Ophthalmoplegia Is Not Only due to mtDNA Deletions
Yonsei Medical Journal
2019 .01
Clinical and Neuroimaging Features in Charcot-Marie-Tooth Patients with GDAP1 Mutations
Journal of Clinical Neurology
2021 .01
Recurrent Ophthalmoplegia Presenting Different Clinical Features in a Patient with Anti-GQ1b Antibody Syndrome
Korean Journal of Ophthalmology
2016 .01
De novo mutations in COL4A5 identified by whole exome sequencing in 2 girls with Alport syndrome in Korea
Clinical and Experimental Pediatrics
2019 .01
Prenatal Diagnosis of a Fatal Case of Fetal Autosomal Dominant Polycystic Kidney Disease
Perinatology
2023 .03
Clinical Characteristics of Children with Attention-Deficit/Hyperactivity Disorder and Epilepsy
대한소아청소년정신의학회 학술대회논문집
2019 .11
Genetic diagnosis of autosomal dominant polycystic kidney disease: linkage analysis versus direct mutation analysis
Kidney Research and Clinical Practice
2016 .01
Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases
Journal of Korean Medical Science
2019 .01
Identification of the CFAP410 Pathogenic Variants in a Korean Patient with Autosomal Recessive Retinitis Pigmentosa and Skeletal Anomalies
Korean Journal of Ophthalmology
2020 .01
A Novel Homozygous Variant of SETX Causes Ataxia with Oculomotor Apraxia Type 2
Journal of Clinical Neurology
2018 .01
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