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dignositic Odyssey 진단 방랑의 고통... 희귀질환, undiagnosed 질환의 탐구!! 2026.07.17해당카페글 미리보기
inherited retinal disease (IRD) patients, 33 pathogenic structural variants were responsible for the disease in 31 (4.29%) individuals. Despite the ability of GS to detect large and complex variants, their interpretation remains...
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경추 불안정성으로 나타나는 문제들 2024 2025.11.13해당카페글 미리보기
progressive disorder causing a normal lordotic curve to break down, ultimately leading to an “S” or “sigmoid” curve and potentially compressing the structures in the carotid sheath, including the vagus nerves and internal jugular...
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배아 또는 태아 대상 유전자 검사 가능 유전질환 7개 추가 선정 2025.08.31해당카페글 미리보기
Neurodevelopmental disorder with microcephaly, arthrogryposis and structural brain anomalies) 미첼 증후군/과산화소체 acyl-CoA 산화효소 결핍증 (Mitchell syndrome/Peroxisomal acyl-CoA oxidase deficiency) 발달 및 뇌전증 뇌병증 9번...
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Re: autophagy related Gene(ATG) ... 2020 Cell 2025.06.10해당카페글 미리보기
developmental disorder) Deficiency of methyl-CpG-binding protein-2 (MeCP2), a transcriptional regulator, results in defective autophagy in patient fibroblasts and knockout mouse cerebellum, and mitochondrial retention in erythrocytes...
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Re: 멜라토닌의 생리학.. 멜라토닌의 모든 것!! 2025.04.23해당카페글 미리보기
wake disorder and jet lag. It might have more extensive therapeutic applications in the future, since multiple physiological roles have been attributed to melatonin. It exerts physiologic immediate effects during night or darkness and...