المؤلفون: Hansen AR; Center for Genomic Medicine, Copenhagen University Hospital, Copenhagen, Denmark., Borgwardt L; Center for Genomic Medicine, Copenhagen University Hospital, Copenhagen, Denmark., Rasmussen ÅK; Department of Endocrinology and Metabolism, Copenhagen University Hospital, Copenhagen, Denmark., Godballe C; Department of Otorhinolaryngology, Head & Neck Surgery and Audiology, Odense University Hospital, Odense, Denmark.; Department of Clinical Research, University of Southern Denmark, Odense, Denmark., Poulsen MM; Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus, Denmark., Vieira FG; Center for Genomic Medicine, Copenhagen University Hospital, Copenhagen, Denmark., Mathiesen JS; Department of Otorhinolaryngology, Head & Neck Surgery and Audiology, Odense University Hospital, Odense, Denmark.; Department of Clinical Research, University of Southern Denmark, Odense, Denmark., Rossing M; Center for Genomic Medicine, Copenhagen University Hospital, Copenhagen, Denmark.; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.

المصدر: Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2021 Dec 01; Vol. 12, pp. 764512. Date of Electronic Publication: 2021 Dec 01 (Print Publication: 2021).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101555782 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2392 (Print) Linking ISSN: 16642392 NLM ISO Abbreviation: Front Endocrinol (Lausanne) Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Variation/*genetics , Germ-Line Mutation/*genetics , Leucine/*genetics , Methionine/*genetics , Multiple Endocrine Neoplasia Type 2a/*genetics , Proto-Oncogene Proteins c-ret/*genetics, Adult ; Aged ; Aged, 80 and over ; Cohort Studies ; Denmark/epidemiology ; Female ; Genetic Testing/methods ; Humans ; Male ; Middle Aged ; Multiple Endocrine Neoplasia Type 2a/diagnosis ; Multiple Endocrine Neoplasia Type 2a/epidemiology

المؤلفون: Byrjalsen A; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.; Department of Paediatrics and Adolescent Medicine, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark., Hansen TVO; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.; Department of Paediatrics and Adolescent Medicine, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark., Stoltze UK; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark., Mehrjouy MM; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.; Department of Paediatrics and Adolescent Medicine, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark., Barnkob NM; Department of Health Technology, Technical University of Denmark, Copenhagen, Denmark., Hjalgrim LL; Department of Paediatrics and Adolescent Medicine, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark., Mathiasen R; Department of Paediatrics and Adolescent Medicine, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark., Lautrup CK; Department of Clinical Genetics, Aalborg University Hospital, Aalborg, Denmark., Gregersen PA; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark., Hasle H; Department of Paediatrics and Adolescent Medicine, Aarhus University Hospital, Aarhus, Denmark., Wehner PS; Department of Paediatric Hematology and Oncology, H. C. Andersen Children's Hospital, Odense University Hospital, Odense, Denmark., Tuckuviene R; Department of Paediatrics and Adolescent Medicine, Aalborg University Hospital, Aalborg, Denmark., Sackett PW; Department of Health Technology, Technical University of Denmark, Copenhagen, Denmark., Laspiur AO; Department of Health Technology, Technical University of Denmark, Copenhagen, Denmark., Rossing M; Center for Genomic Medicine, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark., Marvig RL; Center for Genomic Medicine, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark., Tommerup N; Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark., Olsen TE; Department of Pathology, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark., Scheie D; Department of Pathology, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark., Gupta R; Department of Health Technology, Technical University of Denmark, Copenhagen, Denmark., Gerdes AM; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark., Schmiegelow K; Department of Paediatrics and Adolescent Medicine, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.; Institute of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Wadt K; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.

المصدر: PLoS genetics [PLoS Genet] 2020 Dec 17; Vol. 16 (12), pp. e1009231. Date of Electronic Publication: 2020 Dec 17 (Print Publication: 2020).

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection Cited Medium: Internet ISSN: 1553-7404 (Electronic) Linking ISSN: 15537390 NLM ISO Abbreviation: PLoS Genet Subsets: MEDLINE

مواضيع طبية MeSH: Germ-Line Mutation*, Genetic Testing/*statistics & numerical data , Neoplastic Syndromes, Hereditary/*epidemiology , Whole Genome Sequencing/*statistics & numerical data, Adolescent ; Child ; Child, Preschool ; Female ; Humans ; Incidence ; Infant ; Male ; Mutation Rate ; Neoplastic Syndromes, Hereditary/genetics

المؤلفون: Zarrizi R; Biotech Research and Innovation Centre, University of Copenhagen, Copenhagen, Denmark., Higgs MR; Institute of Cancer and Genomic Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, United Kingdom., Voßgröne K; Biotech Research and Innovation Centre, University of Copenhagen, Copenhagen, Denmark., Rossing M; Centre for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Bertelsen B; Centre for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Bose M; Biotech Research and Innovation Centre, University of Copenhagen, Copenhagen, Denmark., Kousholt AN; Biotech Research and Innovation Centre, University of Copenhagen, Copenhagen, Denmark., Rösner H; Biotech Research and Innovation Centre, University of Copenhagen, Copenhagen, Denmark., Network TC; The COMPLEXO Network is detailed in Supplemental Acknowledgments., Ejlertsen B; Department of Oncology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Stewart GS; Institute of Cancer and Genomic Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, United Kingdom., Nielsen FC; Centre for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Sørensen CS; Biotech Research and Innovation Centre, University of Copenhagen, Copenhagen, Denmark.

المصدر: The Journal of clinical investigation [J Clin Invest] 2020 Aug 03; Vol. 130 (8), pp. 4069-4080.

نوع المنشور: Clinical Trial; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: Print Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE

مواضيع طبية MeSH: Breast Neoplasms*/enzymology , Breast Neoplasms*/genetics , Breast Neoplasms*/pathology , DNA Replication* , DNA, Neoplasm*/genetics , DNA, Neoplasm*/metabolism , Endodeoxyribonucleases*/genetics , Endodeoxyribonucleases*/metabolism , Germ-Line Mutation* , Neoplasm Proteins*/genetics , Neoplasm Proteins*/metabolism, Adult ; DNA Breaks, Double-Stranded ; Female ; Humans ; MCF-7 Cells

المؤلفون: Mathiesen JS; Department of ORL Head and Neck Surgery and Audiology, Odense University Hospital, Odense, Denmark.; Department of Clinical Research, University of Southern Denmark, Odense, Denmark., Nielsen SG; Department of ORL Head and Neck Surgery and Audiology, Odense University Hospital, Odense, Denmark., Rasmussen ÅK; Department of Medical Endocrinology, Copenhagen University Hospital, Copenhagen, Denmark., Kiss K; Department of Pathology, Copenhagen University Hospital, Copenhagen, Denmark., Wadt K; Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark., Hermann AP; Department of Endocrinology, Odense University Hospital, Odense, Denmark., Nielsen MF; Department of Endocrinology, Odense University Hospital, Odense, Denmark., Larsen SR; Department of Pathology, Odense University Hospital, Odense, Denmark., Brusgaard K; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Frederiksen AL; Department of Clinical Genetics, Aalborg University Hospital, Aalborg, Denmark., Godballe C; Department of ORL Head and Neck Surgery and Audiology, Odense University Hospital, Odense, Denmark., Rossing M; Center for Genomic Medicine, Copenhagen University Hospital, Copenhagen, Denmark.

المصدر: Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2020 Apr 28; Vol. 11, pp. 251. Date of Electronic Publication: 2020 Apr 28 (Print Publication: 2020).

نوع المنشور: Case Reports; Comparative Study; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101555782 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2392 (Print) Linking ISSN: 16642392 NLM ISO Abbreviation: Front Endocrinol (Lausanne) Subsets: MEDLINE

مواضيع طبية MeSH: Germ-Line Mutation*, Carcinoma, Neuroendocrine/*pathology , Proto-Oncogene Proteins c-ret/*genetics , Thyroid Neoplasms/*pathology, Adolescent ; Aged ; Carcinoma, Neuroendocrine/blood ; Carcinoma, Neuroendocrine/genetics ; Female ; Humans ; Prognosis ; Retrospective Studies ; Thyroid Neoplasms/blood ; Thyroid Neoplasms/genetics

SCR Disease Name: Thyroid cancer, medullary

المؤلفون: Burke LJ; School of Chemistry and Molecular Biosciences, University of Queensland, Brisbane, Australia., Sevcik J; School of Chemistry and Molecular Biosciences, University of Queensland, Brisbane, Australia.; Institute of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University, Prague, Czech Republic., Gambino G; School of Chemistry and Molecular Biosciences, University of Queensland, Brisbane, Australia.; Section of Molecular Genetics, Department of Laboratory Medicine, University Hospital of Pisa, Pisa, Italy., Tudini E; School of Chemistry and Molecular Biosciences, University of Queensland, Brisbane, Australia.; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Australia., Mucaki EJ; University of Western Ontario, Department of Biochemistry, Schulich School of Medicine and Dentistry, London, Ontario, Canada., Shirley BC; CytoGnomix Inc., London, Ontario, Canada., Whiley P; School of Chemistry and Molecular Biosciences, University of Queensland, Brisbane, Australia.; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Australia., Parsons MT; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Australia., De Leeneer K; Center for Medical Genetics, Ghent University Hospital, and Cancer Research Institute Ghent (CRIG), Ghent University, Ghent, Belgium., Gutiérrez-Enríquez S; Oncogenetics Group, Vall d'Hebron Institute of Oncology (VHIO), Barcelona, Spain., Santamariña M; Fundación Pública Galega de Medicina Xenómica-SERGAS, Grupo de Medicina Xenómica-USC, CIBERER, IDIS, Santiago de Compostela, Spain., Caputo SM; Service de Génétique, Department de Biologie des Tumeurs, Institut Curie, Paris, France., Santana Dos Santos E; Service de Génétique, Department de Biologie des Tumeurs, Institut Curie, Paris, France.; Department of oncology, Center for Translational Oncology, Cancer Institute of the State of São Paulo - ICESP, São Paulo, Brazil.; A.C.Camargo Cancer Center, São Paulo, Brazil., Soukupova J; Institute of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University, Prague, Czech Republic., Janatova M; Institute of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University, Prague, Czech Republic., Zemankova P; Institute of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University, Prague, Czech Republic., Lhotova K; Institute of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University, Prague, Czech Republic., Stolarova L; Institute of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University, Prague, Czech Republic., Borecka M; Institute of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University, Prague, Czech Republic., Moles-Fernández A; Oncogenetics Group, Vall d'Hebron Institute of Oncology (VHIO), Barcelona, Spain., Manoukian S; Unit of Medical Genetics, Department of Medical Oncology and Hematology, Fondazione IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Istituto Nazionale dei Tumori (INT), Milan, Italy., Bonanni B; Division of Cancer Prevention and Genetics, Istituto Europeo di Oncologia, Milan, Italy., Edwards SL; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Australia., Blok MJ; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands., van Overeem Hansen T; Center for Genomic Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Rossing M; Center for Genomic Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Diez O; Oncogenetics Group, Vall d'Hebron Institute of Oncology (VHIO), Barcelona, Spain.; Area of Clinical and Molecular Genetics, University Hospital Vall d'Hebron (UHVH), Barcelona, Spain., Vega A; Fundación Pública Galega de Medicina Xenómica-SERGAS, Grupo de Medicina Xenómica-USC, CIBERER, IDIS, Santiago de Compostela, Spain., Claes KBM; Center for Medical Genetics, Ghent University Hospital, and Cancer Research Institute Ghent (CRIG), Ghent University, Ghent, Belgium., Goldgar DE; Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah., Rouleau E; Gustave Roussy, Villejuif, France., Radice P; Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Research, Fondazione IRCCS Istituto Nazionale dei Tumori di Milano, Milan, Italy., Peterlongo P; IFOM, Fondazione Istituto FIRC di Oncologia Molecolare, Milan, Italy., Rogan PK; University of Western Ontario, Department of Biochemistry, Schulich School of Medicine and Dentistry, London, Ontario, Canada.; CytoGnomix Inc., London, Ontario, Canada., Caligo M; Section of Molecular Genetics, Department of Laboratory Medicine, University Hospital of Pisa, Pisa, Italy., Spurdle AB; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Australia., Brown MA; School of Chemistry and Molecular Biosciences, University of Queensland, Brisbane, Australia.

مؤلفون مشاركون: ENIGMA Consortium; School of Chemistry and Molecular Biosciences, University of Queensland, Brisbane, Australia.

المصدر: Human mutation [Hum Mutat] 2018 Dec; Vol. 39 (12), pp. 2025-2039. Date of Electronic Publication: 2018 Sep 24.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

مواضيع طبية MeSH: Germ-Line Mutation* , Promoter Regions, Genetic*, BRCA1 Protein/*genetics , BRCA2 Protein/*genetics , Breast Neoplasms/*genetics, 5' Untranslated Regions ; Age of Onset ; BRCA1 Protein/chemistry ; BRCA1 Protein/metabolism ; BRCA2 Protein/chemistry ; BRCA2 Protein/metabolism ; CCAAT-Binding Factor/metabolism ; Cell Line, Tumor ; Female ; Genetic Predisposition to Disease ; Humans ; MCF-7 Cells ; PAX5 Transcription Factor/metabolism ; Protein Binding

SCR Disease Name: Breast Cancer, Familial

المؤلفون: Fager Ferrari M; a Department of Translational Medicine , Lund University , Malmö , Sweden., Leinoe E; b Department of Hematology, Rigshospitalet , Copenhagen University Hospital , Copenhagen , Denmark., Rossing M; c Department of Genomic Medicine, Rigshospitalet , Copenhagen University Hospital , Copenhagen , Denmark., Norström E; a Department of Translational Medicine , Lund University , Malmö , Sweden., Strandberg K; d Department of Laboratory Medicine , Lund University , Malmö , Sweden., Steen Sejersen T; e Department of Biomedical Sciences, Core Facility for Integrated Microscopy (CFIM) , University of Copenhagen , Denmark., Qvortrup K; e Department of Biomedical Sciences, Core Facility for Integrated Microscopy (CFIM) , University of Copenhagen , Denmark., Zetterberg E; a Department of Translational Medicine , Lund University , Malmö , Sweden.

المصدر: Platelets [Platelets] 2018 Jan; Vol. 29 (1), pp. 56-64. Date of Electronic Publication: 2017 Apr 11.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Informa Healthcare Country of Publication: England NLM ID: 9208117 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1369-1635 (Electronic) Linking ISSN: 09537104 NLM ISO Abbreviation: Platelets Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Predisposition to Disease* , Germ-Line Mutation* , Heterozygote* , Mutation*, Hemorrhage/*etiology , Lymphohistiocytosis, Hemophagocytic/*complications , Lymphohistiocytosis, Hemophagocytic/*genetics, Adolescent ; Adult ; Blood Platelets/metabolism ; Blood Platelets/ultrastructure ; Child ; Child, Preschool ; Comorbidity ; Female ; Flow Cytometry ; Humans ; Lymphohistiocytosis, Hemophagocytic/diagnosis ; Lymphohistiocytosis, Hemophagocytic/metabolism ; Male ; Membrane Proteins/genetics ; Middle Aged ; Models, Biological ; Munc18 Proteins/genetics ; Platelet Count ; Qa-SNARE Proteins/genetics ; Secretory Vesicles/metabolism ; Secretory Vesicles/ultrastructure ; Whole Genome Sequencing ; Young Adult

المؤلفون: Mathiesen JS; 1 Department of ORL Head and Neck Surgery, Odense University Hospital , Odense, Denmark .; 2 Department of Clinical Research, University of Southern Denmark , Odense, Denmark ., Kroustrup JP; 3 Department of Clinical Medicine and Endocrinology, Aalborg University Hospital , Aalborg, Denmark ., Vestergaard P; 3 Department of Clinical Medicine and Endocrinology, Aalborg University Hospital , Aalborg, Denmark ., Stochholm K; 4 Department of Internal Medicine and Endocrinology, Aarhus University Hospital , Aarhus, Denmark ., Poulsen PL; 4 Department of Internal Medicine and Endocrinology, Aarhus University Hospital , Aarhus, Denmark ., Rasmussen ÅK; 5 Department of Medical Endocrinology, Copenhagen University Hospital , Copenhagen, Denmark ., Feldt-Rasmussen U; 5 Department of Medical Endocrinology, Copenhagen University Hospital , Copenhagen, Denmark ., Gaustadnes M; 6 Department of Molecular Medicine, Aarhus University Hospital , Aarhus, Denmark ., Ørntoft TF; 6 Department of Molecular Medicine, Aarhus University Hospital , Aarhus, Denmark ., Rossing M; 7 Center for Genomic Medicine, Copenhagen University Hospital , Copenhagen, Denmark ., Nielsen FC; 7 Center for Genomic Medicine, Copenhagen University Hospital , Copenhagen, Denmark ., Albrechtsen A; 8 Bioinformatics Center, Department of Biology, University of Copenhagen , Copenhagen, Denmark ., Brixen K; 2 Department of Clinical Research, University of Southern Denmark , Odense, Denmark ., Godballe C; 1 Department of ORL Head and Neck Surgery, Odense University Hospital , Odense, Denmark ., Frederiksen AL; 2 Department of Clinical Research, University of Southern Denmark , Odense, Denmark .; 9 Department of Clinical Genetics, Odense University Hospital , Odense, Denmark .

المصدر: Thyroid : official journal of the American Thyroid Association [Thyroid] 2017 Dec; Vol. 27 (12), pp. 1505-1510. Date of Electronic Publication: 2017 Nov 03.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Mary Ann Liebert Publishers Country of Publication: United States NLM ID: 9104317 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1557-9077 (Electronic) Linking ISSN: 10507256 NLM ISO Abbreviation: Thyroid Subsets: MEDLINE

مواضيع طبية MeSH: Founder Effect* , Germ-Line Mutation*, Multiple Endocrine Neoplasia Type 2a/*genetics , Proto-Oncogene Proteins c-ret/*genetics , Thyroid Neoplasms/*genetics, Denmark ; Exons ; Gene Frequency ; Genotype ; Humans ; Pedigree ; Polymorphism, Single Nucleotide

المؤلفون: Leinøe E; Department of Haematology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Zetterberg E; Department of Haematology, Coagulation Unit, Skaane University Hospital, Lund, Sweden., Kinalis S; Centre for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Østrup O; Centre for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Kampmann P; Department of Haematology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Norström E; Department of Translational Medicine, Lund University, Skaane University Hospital, Lund, Sweden., Andersson N; Department of Haematology, Coagulation Unit, Skaane University Hospital, Lund, Sweden., Klintman J; Department of Haematology, Coagulation Unit, Skaane University Hospital, Lund, Sweden., Qvortrup K; Department of Biomedical Sciences, Core Facility for Integrated Microscopy (CFIM), University of Copenhagen, Copenhagen, Denmark., Nielsen FC; Centre for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Rossing M; Centre for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.

المصدر: British journal of haematology [Br J Haematol] 2017 Oct; Vol. 179 (2), pp. 308-322. Date of Electronic Publication: 2017 Jul 27.

نوع المنشور: Clinical Trial; Journal Article; Research Support, Non-U.S. Gov't

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

مواضيع طبية MeSH: Exome* , Germ-Line Mutation*, Blood Coagulation Disorders, Inherited/*diagnosis , Blood Coagulation Disorders, Inherited/*genetics, Blood Coagulation Disorders, Inherited/epidemiology ; Denmark/epidemiology ; Female ; Genome-Wide Association Study ; Humans ; Male ; Sweden/epidemiology

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