Search Results - "遺伝性疾患" :: K.UTB vyhledávací portál | TBU Library Retrieval Portal

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不安定なｍＲＮＡによって特徴付けられた遺伝性疾患の治療

Year of Publication 22.11.2022

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Patent

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遺伝情報の利用規制がもたらす課題: 先天性異常による免責が争われた裁判例を踏まえた考察

by 加藤, 和人, 村岡, 悠子
Published in 生命倫理 (28.09.2021)

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Issues Caused by Regulations on the Use of Genetic Information

by MURAOKA Yuko, KATO Kazuto
Published in 生命倫理 (28.09.2021)

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遺伝性乳がん・卵巣がん症候群における遺伝カウンセリング受診の障壁に関する多施設調査

by 四元, 淳子, 赤木, 究, 甲畑（照井）, 宏子, 大石, 陽子, 吉田, 雅幸, 青木, 美保, 内田, 信之
Published in 医療と社会 (2017)

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クリニカルシークエンスにおける偶発的所見･二次的所見をめぐる新たな課題: 得られた偶発的所見･二次的所見が第三者への危害を生じうる疾患に関連する場合について

by 大橋, 範子
Published in 生命倫理 (29.09.2018)

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COMPOUNDS AND METHODS FOR MODULATING UBE3A-ATS

by PAYMAAN JAFAR-NEJAD, FRANK RIGO, SUSAN M FREIER, BUI HUYNH-HOA
Year of Publication 10.12.2024

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Patent

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ＲＡＳ阻害剤としてのミトキサントロン誘導体

Year of Publication 05.08.2025

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新規ＲＡＳ阻害剤

Year of Publication 30.07.2025

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NUCLEIC ACID-POLYPEPTIDE COMPOSITION AND USE THEREOF

by DAVID SAI-HO CHU, JOEL DANIEL ARIAS, ROB BURKE, VENKATA RAMANA DOPPALAPUDI, MICHAEL CARAMIAN COCHRAN
Year of Publication 18.03.2025

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サンフィリポ疾患およびその他の障害の処置のための組成物および方法

Year of Publication 14.12.2022

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ＵＢＥ３Ａ－ＡＴＳを調節するための化合物及び方法

Year of Publication 30.05.2022

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ポルフィリン症患者およびその未発症血縁者における酸化的ストレスに関する研究

by 池田, 真紀, 網中, 雅仁, 山内, 博, 吉田, 勝美, 高田, 礼子, 近藤, 雅雄
Published in 日本衛生学雑誌 (2008)

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球脊髄性筋萎縮症：これからの治療

by 土方, 靖浩, 橋詰, 淳, 勝野, 雅央, 祖父江, 元
Published in 神経治療学 (2018)

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ＳＭＮ２を調節するための化合物及び方法

Year of Publication 23.03.2023

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Patent

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遺伝子置換のための組成物および方法

Year of Publication 12.09.2022

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二環式尿素キナーゼインヒビターおよびそれらの使用

Year of Publication 03.10.2019

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Carrier screening for present disease prevalence and recessive genetic disorder in Taiwanese population

by Chen, Li Shan, Yu, Cheng Wei, Li, Wei Jiun, Hsieh, Wen Chi, Li, Yi Ping
Published in Journal of human genetics (01.04.2024)

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Clinical and technical assessment of MedExome vs. NGS panels in patients with suspected genetic disorders in Southwestern Ontario

by Aref-Eshghi, Erfan, Kerkhof, Jennifer, Carere, Deana Alexis, Volodarsky, Michael, Bhai, Pratibha, Colaiacovo, Samantha, Saleh, Maha, Caudle, Michelle, Karp, Natalya, Prasad, Chitra, Balci, Tugce, Lin, Hanxin, Campbell, Craig, Siu, Victoria Mok, Sadikovic, Bekim
Published in Journal of human genetics (01.05.2021)

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유전성 질환의 치료를 위한 것을 포함하는, 아데노신 데아미나제 염기 편집기를 사용하여 질환-관련 유전자를 편집하는 방법

by GEHRKE JASON MICHAEL, PACKER MICHAEL, SLAYMAKER IAN, MESSANA ANGELICA, BORN DAVID A, ZETSCHE BERND, YU YI, LEE SEUNG JOO, BERKOVITCH SHAUNNA, PETROSSIAN NATALIE, GAUDELLI NICOLE
Year of Publication 21.10.2021

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