文献
J-GLOBAL ID:202002254559214765
整理番号:20A1925101
ホモ接合性のランの体系的検出による希少疾患患者の診断の改善【JST・京大機械翻訳】
Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity
著者 (21件):
Matalonga Leslie
(Centro Nacional de Analisis Genomico (CNAG)-Centro de Regulacion Genomica (CRG), Centre for Genomic Regulation, Barcelona Institute of Science and Technology, Barcelona, Spain)
,
Laurie Steven
(Centro Nacional de Analisis Genomico (CNAG)-Centro de Regulacion Genomica (CRG), Centre for Genomic Regulation, Barcelona Institute of Science and Technology, Barcelona, Spain)
,
Papakonstantinou Anastasios
(Centro Nacional de Analisis Genomico (CNAG)-Centro de Regulacion Genomica (CRG), Centre for Genomic Regulation, Barcelona Institute of Science and Technology, Barcelona, Spain)
,
Piscia Davide
(Centro Nacional de Analisis Genomico (CNAG)-Centro de Regulacion Genomica (CRG), Centre for Genomic Regulation, Barcelona Institute of Science and Technology, Barcelona, Spain)
,
Mereu Elisabetta
(Centro Nacional de Analisis Genomico (CNAG)-Centro de Regulacion Genomica (CRG), Centre for Genomic Regulation, Barcelona Institute of Science and Technology, Barcelona, Spain)
,
Bullich Gemma
(Centro Nacional de Analisis Genomico (CNAG)-Centro de Regulacion Genomica (CRG), Centre for Genomic Regulation, Barcelona Institute of Science and Technology, Barcelona, Spain)
,
Thompson Rachel
(Department of Medicine, Division of Neurology, Children’s Hospital of Eastern Ontario Research Institute, The Ottawa Hospital, Ottawa, Ontario, Canada)
,
Thompson Rachel
(Brain and Mind Research Institute, University of Ottawa, Ottawa, Ontario, Canada)
,
Horvath Rita
(Department of Clinical Neurosciences, University of Cambridge School of Clinical Medicine, Cambridge Biomedical Campus, Cambridge, United Kingdom)
,
Perez-Jurado Luis
(Hospital del Mar Research Institute (IMIM), Barcelona, Spain)
,
Perez-Jurado Luis
(Hospital del Mar Research Institute (IMIM) and Centro de Investigacion Biomedica en Red-Enfermedades Raras (CIBERER), Barcelona, Spain)
,
Perez-Jurado Luis
(Women’s and Children Hospital, South Australian Health and Medical Research Institute and The University of Adelaide, Adelaide, South Australia, Australia)
,
Riess Olaf
(Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany)
,
Gut Ivo
(Centro Nacional de Analisis Genomico (CNAG)-Centro de Regulacion Genomica (CRG), Centre for Genomic Regulation, Barcelona Institute of Science and Technology, Barcelona, Spain)
,
van Ommen Gert-Jan
(Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands)
,
Lochmueller Hanns
(Centro Nacional de Analisis Genomico (CNAG)-Centro de Regulacion Genomica (CRG), Centre for Genomic Regulation, Barcelona Institute of Science and Technology, Barcelona, Spain)
,
Lochmueller Hanns
(Department of Medicine, Division of Neurology, Children’s Hospital of Eastern Ontario Research Institute, The Ottawa Hospital, Ottawa, Ontario, Canada)
,
Lochmueller Hanns
(Brain and Mind Research Institute, University of Ottawa, Ottawa, Ontario, Canada)
,
Lochmueller Hanns
(Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany)
,
Beltran Sergi
(Centro Nacional de Analisis Genomico (CNAG)-Centro de Regulacion Genomica (CRG), Centre for Genomic Regulation, Barcelona Institute of Science and Technology, Barcelona, Spain)
,
Beltran Sergi
(Universitat Pompeu Fabra, Barcelona, Spain)
資料名:
Journal of Molecular Diagnostics
(Journal of Molecular Diagnostics)
巻:
22
号:
9
ページ:
1205-1215
発行年:
2020年
JST資料番号:
W3144A
ISSN:
1525-1578
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)