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J-GLOBAL ID：202102272687027758
整理番号：21A0020077
原発性線毛ジスキネジアと関連したホモ接合性切断NEK10変異:症例報告【JST・京大機械翻訳】
Homozygous truncating NEK10 mutation, associated with primary ciliary dyskinesia: a case report
Mutairi Fuad Al
(Medical Genetics Division, Department of Pediatrics, King Abdullah specialized Children’s Hospital, King Abdulaziz Medical City, Riyadh, Saudi Arabia)
,
Mutairi Fuad Al
(Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGH), Riyadh, Saudi Arabia)
,
Alkhalaf Randa
(Medical Genetics Division, Department of Pediatrics, King Abdullah specialized Children’s Hospital, King Abdulaziz Medical City, Riyadh, Saudi Arabia)
,
Alkhorayyef Abdullah
(Pulmonary Division, Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia)
,
Alroqi Fayhan
(Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGH), Riyadh, Saudi Arabia)
,
Alroqi Fayhan
(Immunology Division, Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia)
,
Yusra Alyafee
(Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGH), Riyadh, Saudi Arabia)
,
Umair Muhammad
(Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGH), Riyadh, Saudi Arabia)
,
Nouf Fetaini
(Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGH), Riyadh, Saudi Arabia)
,
Khan Amjad
(Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGH), Riyadh, Saudi Arabia)
,
Meshael Alharbi
(Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGH), Riyadh, Saudi Arabia)
,
Hamad Aleidi
(Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGH), Riyadh, Saudi Arabia)
,
Monira Alaujan
(Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGH), Riyadh, Saudi Arabia)
,
Asiri Abdulaziz
(Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGH), Riyadh, Saudi Arabia)
,
Alhamoudi Kheloud M.
(Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGH), Riyadh, Saudi Arabia)
,
Alfadhel Majid
(Medical Genetics Division, Department of Pediatrics, King Abdullah specialized Children’s Hospital, King Abdulaziz Medical City, Riyadh, Saudi Arabia)
,
Alfadhel Majid
(Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGH), Riyadh, Saudi Arabia)
資料名：
BMC Pulmonary Medicine (Web)
(BMC Pulmonary Medicine (Web))
巻： 20 号： 1 ページ： 1-5 発行年： 2020年
JST資料番号： U7449A ISSN： 1471-2466 資料種別： 逐次刊行物 (A)
記事区分： 原著論文 発行国： イギリス (GBR) 言語： 英語 (EN)
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