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기타
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04-25 |
13:00~13:20 |
Registration |
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기타
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04-25 |
13:20~13:30 |
Opening address and welcome remarks |
권순학 |
경북대학교병원, 대구경북 희귀질환센터 |
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교육시간
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04-25 |
13:30~14:00 |
ERN GENTURIS tumour surveillance guidelines for individuals with NF1 |
Eric Legius |
Centrum Menselijke Erfelijkheid, Belgium |
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교육시간
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04-25 |
14:00~14:30 |
Warburg-Cinotti syndrome: approach using single cell RNA sequencing |
이상진 |
경북대학교병원 |
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교육시간
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04-25 |
14:30~15:00 |
Genoytype-phenotype correlation in congenital myopathy: Insights from RYR1 and NEB mutations |
Masashi Ogasawara |
National Center of Neurology and Psychiatry, Japan |
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교육시간
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04-25 |
15:00~15:30 |
Understanding the Pathomechanisms of Myotonic Dystrophy Type 1 (DM1) and CRISPR-Cas13-Based Therapeutic Strategies |
오한슬 |
Friedrich-Baur-Institue, Ludwig Maximilians-University of Munich, Germany |
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토론
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04-25 |
15:30~15:40 |
Q & A |
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휴식
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04-25 |
15:40~16:00 |
Coffee break |
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교육시간
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04-25 |
16:00~16:30 |
Understanding the experiences and needs of individuals with spinal muscular atrophy |
김존수 |
충북대학교병원 |
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교육시간
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04-25 |
16:30~17:00 |
Therapeutic Strategies for Infantile-Onset Spinal Muscular Atrophy: Current Approaches and Future Directions |
채종희 |
서울대학교병원 |
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교육시간
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04-25 |
17:00~17:30 |
Therapeutic strategies for adolescent and adult spinal muscular atrophy: What can we expect? |
Maggie C.Walter |
Friedrich-Baur-Institue, Ludwig Maximilians-University of Munich, Germany |
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교육시간
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04-25 |
17:30~18:00 |
Comprehensive care beyond treatment in spinal muscular atrophy |
이윤정 |
경북대학교병원 |
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토론
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04-25 |
18:00~18:10 |
Q & A |
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기타
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04-25 |
18:10~18:20 |
Closing remarks |
권순학 |
경북대학교병원, 대구경북 희귀질환센터 |