文献
J-GLOBAL ID:202202229999882511
整理番号:22A0228948
神経筋障害で臨床的に診断されたモロッコ家族における標的NGSによる新規突然変異の同定【JST・京大機械翻訳】
Identification of novel mutations by targeted NGS in Moroccan families clinically diagnosed with a neuromuscular disorder
著者 (20件):
Rochdi Khaoula
(Laboratory of Biology and Health, URAC 34, Faculty of Sciences Ben M’Sik, Hassan II University, Casablanca, Morocco)
,
Rochdi Khaoula
(Laboratory of Genomics and Human Genetics, Institut Pasteur du Maroc, Casablanca, Morocco)
,
Cerino Mathieu
(Faculte des Sciences Medicales et Paramedicales, Marseille Medical Genetics, Aix Marseille Universite, INSERM, Marseille, France)
,
Cerino Mathieu
(APHM, Hopital Timone Enfants, Departement de Genetique Medicale, Marseille, France)
,
Cerino Mathieu
(APHM, Hopital de la Conception, Laboratoire de Biochimie, Marseille, France)
,
Da Silva Nathalie
(Faculte des Sciences Medicales et Paramedicales, Marseille Medical Genetics, Aix Marseille Universite, INSERM, Marseille, France)
,
Delague Valerie
(INSERM, MMG, UMR 1251, Aix Marseille Univ., Marseille, France)
,
Bouzidi Aymane
(Laboratory of Genomics and Human Genetics, Institut Pasteur du Maroc, Casablanca, Morocco)
,
Bouzidi Aymane
(MitoLab team, Institut MitoVasc, UMR CNRS 6015, INSERM U1083, Universite d’Angers, Angers, France)
,
Bouzidi Aymane
(Team of Anthropogenetics and Biotechnologies, Faculty of Sciences, Chouaib Doukkali University, Eljadida, Morocco)
,
Nahili Halima
(Laboratory of Genomics and Human Genetics, Institut Pasteur du Maroc, Casablanca, Morocco)
,
Zouiri Ghizlane
(Unit of Neuropaediatrics and Neurometabolic Diseases, Rabat Children’s Hospital, Faculty of Medicine and Pharmacy, Mohamed V University, Rabat, Morocco)
,
Kriouile Yamna
(Unit of Neuropaediatrics and Neurometabolic Diseases, Rabat Children’s Hospital, Faculty of Medicine and Pharmacy, Mohamed V University, Rabat, Morocco)
,
Gorokhova Svetlana
(Faculte des Sciences Medicales et Paramedicales, Marseille Medical Genetics, Aix Marseille Universite, INSERM, Marseille, France)
,
Gorokhova Svetlana
(APHM, Hopital Timone Enfants, Departement de Genetique Medicale, Marseille, France)
,
Bartoli Marc
(Faculte des Sciences Medicales et Paramedicales, Marseille Medical Genetics, Aix Marseille Universite, INSERM, Marseille, France)
,
Saiele Rachid
(Laboratory of Biology and Health, URAC 34, Faculty of Sciences Ben M’Sik, Hassan II University, Casablanca, Morocco)
,
Barakat Abdelhamid
(Laboratory of Genomics and Human Genetics, Institut Pasteur du Maroc, Casablanca, Morocco)
,
Krahn Martin
(Faculte des Sciences Medicales et Paramedicales, Marseille Medical Genetics, Aix Marseille Universite, INSERM, Marseille, France)
,
Krahn Martin
(APHM, Hopital Timone Enfants, Departement de Genetique Medicale, Marseille, France)
資料名:
Clinica Chimica Acta
(Clinica Chimica Acta)
巻:
524
ページ:
51-58
発行年:
2022年
JST資料番号:
H0758A
ISSN:
0009-8981
CODEN:
CCATAR
資料種別:
逐次刊行物 (A)
記事区分:
原著論文
発行国:
オランダ (NLD)
言語:
英語 (EN)