تقرير
Outcome of an enhanced diagnostic pipeline for patients suspected of inherited thrombocytopenia.
| العنوان: | Outcome of an enhanced diagnostic pipeline for patients suspected of inherited thrombocytopenia. |
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| المؤلفون: | Leinøe E; Department of Haematology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Gabrielaite M; Centre for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Østrup O; Centre for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Funding E; Department of Haematology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Greinacher A; Institure for Immunology and Transfusion Medicine, University Hospital, Greifswald, Germany., Ostrowski SR; Department of Clinical Immunology, Rigshospitalet, Copenhagen, Denmark., Zetterberg E; Haematology and Coagulation Unit, Skaane University Hospital, Malmö, Sweden., Rossing M; Centre for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark. |
| المصدر: | British journal of haematology [Br J Haematol] 2019 Jul; Vol. 186 (2), pp. 373-376. Date of Electronic Publication: 2019 Mar 25. |
| نوع المنشور: | Clinical Trial; Letter; Research Support, Non-U.S. Gov't |
| اللغة: | English |
| بيانات الدورية: | Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 0372544 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2141 (Electronic) Linking ISSN: 00071048 NLM ISO Abbreviation: Br J Haematol Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: Oxford : Wiley-Blackwell Original Publication: Oxford : Blackwell Scientific Publications |
| مواضيع طبية MeSH: | DNA Copy Number Variations* , Genetic Diseases, Inborn*/diagnosis , Genetic Diseases, Inborn*/genetics , Genotyping Techniques* , High-Throughput Nucleotide Sequencing* , Polymorphism, Single Nucleotide* , Thrombocytopenia*/diagnosis , Thrombocytopenia*/genetics, Adolescent ; Adult ; Aged ; Child ; Female ; Humans ; Male ; Middle Aged |
| فهرسة مساهمة: | Keywords: copy number variant analysis; inherited thrombocytopenia; whole exome sequencing |
| تواريخ الأحداث: | Date Created: 20190326 Date Completed: 20200526 Latest Revision: 20200526 |
| رمز التحديث: | 20231215 |
| DOI: | 10.1111/bjh.15886 |
| PMID: | 30908598 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 1365-2141 |
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| DOI: | 10.1111/bjh.15886 |