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J-GLOBAL ID:202202236376723658   整理番号:22A0449746

高血縁集団の胎児構造異常における出生前エクソーム配列決定と染色体マイクロアレイ解析は多系統表現型を引き起こす繊毛症遺伝子の傾向を明らかにする【JST・京大機械翻訳】

Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypes
著者 (39件):
Al-Hamed Mohamed H.
(Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia)
Al-Hamed Mohamed H.
(Saudi Diagnostics Laboratory, KFSHI, Riyadh, Saudi Arabia)
Kurdi Wesam
(Department of Obstetrics and Genecology, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia)
Khan Rubina
(Department of Obstetrics and Genecology, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia)
Tulbah Maha
(Department of Obstetrics and Genecology, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia)
AlNemer Maha
(Department of Obstetrics and Genecology, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia)
AlSahan Nada
(Department of Obstetrics and Genecology, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia)
AlMugbel Maisoon
(Department of Obstetrics and Genecology, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia)
Rafiullah Rafiullah
(Saudi Diagnostics Laboratory, KFSHI, Riyadh, Saudi Arabia)
Assoum Mirna
(Saudi Diagnostics Laboratory, KFSHI, Riyadh, Saudi Arabia)
Monies Dorota
(Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia)
Shah Zeeshan
(Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia)
Rahbeeni Zuhair
(Medical Genetics Department, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia)
Derar Nada
(Medical Genetics Department, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia)
Hakami Fahad
(King Abdulaziz Medical City/King Saud bin Abdulaziz University for Health Science, Jeddah, Saudi Arabia)
Almutairi Gawaher
(Department of Obstetrics and Genecology, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia)
AlOtaibi Afaf
(Saudi Diagnostics Laboratory, KFSHI, Riyadh, Saudi Arabia)
Ali Wafaa
(Saudi Diagnostics Laboratory, KFSHI, Riyadh, Saudi Arabia)
AlShammasi Amal
(Saudi Diagnostics Laboratory, KFSHI, Riyadh, Saudi Arabia)
AlMubarak Wardah
(Department of Obstetrics and Genecology, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia)
AlDawoud Samia
(Department of Obstetrics and Genecology, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia)
AlAmri Saja
(Department of Obstetrics and Genecology, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia)
Saeed Bashayer
(Department of Obstetrics and Genecology, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia)
Bukhari Hanifa
(Department of Obstetrics and Genecology, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia)
Ali Mohannad
(Department of Obstetrics and Genecology, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia)
Akili Rana
(Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia)
Alquayt Laila
(Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia)
Hagos Samia
(Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia)
Elbardisy Hadeel
(Saudi Diagnostics Laboratory, KFSHI, Riyadh, Saudi Arabia)
Akilan Asma
(Saudi Diagnostics Laboratory, KFSHI, Riyadh, Saudi Arabia)
Almuhana Nora
(Saudi Diagnostics Laboratory, KFSHI, Riyadh, Saudi Arabia)
AlKhalifah Abrar
(Saudi Diagnostics Laboratory, KFSHI, Riyadh, Saudi Arabia)
Abouelhoda Mohamed
(Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia)
Ramzan Khushnooda
(Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia)
Sayer John A.
(Faculty of Medical Sciences, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK)
Sayer John A.
(Renal Services, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK)
Sayer John A.
(NIHR Newcastle Biomedical Research Centre, Newcastle University, Newcastle upon Tyne, UK)
Imtiaz Faiqa
(Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia)
Imtiaz Faiqa
(Saudi Diagnostics Laboratory, KFSHI, Riyadh, Saudi Arabia)

資料名:
Human Genetics  (Human Genetics)

巻: 141  号:ページ: 101-126  発行年: 2022年 
JST資料番号: E0781B  ISSN: 0340-6717  CODEN: HUGEDQ  資料種別: 逐次刊行物 (A)
記事区分: 原著論文  発行国: ドイツ (DEU)  言語: 英語 (EN)
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