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- [1] EMQN best practice guidelines for genetic testing in dystrophinopathiesEUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (09) : 1141 - 1159Fratter, Carl论文数: 0 引用数: 0 h-index: 0机构: Oxford Univ Hosp NHS Fdn Trust, Oxford Med Genet Labs, Oxford, England Genom Qual Assessment GenQA, Edinburgh, Midlothian, Scotland Oxford Univ Hosp NHS Fdn Trust, Oxford Med Genet Labs, Oxford, EnglandDalgleish, Raymond论文数: 0 引用数: 0 h-index: 0机构: Univ Leicester, Dept Genet & Genome Biol, Leicester, Leics, England Oxford Univ Hosp NHS Fdn Trust, Oxford Med Genet Labs, Oxford, EnglandAllen, Stephanie K.论文数: 0 引用数: 0 h-index: 0机构: Birmingham Womens & Childrens NHS Fdn Trust, West Midlands Reg Genet Lab, Birmingham, W Midlands, England Oxford Univ Hosp NHS Fdn Trust, Oxford Med Genet Labs, Oxford, EnglandSantos, Rosario论文数: 0 引用数: 0 h-index: 0机构: CHU Porto, CGMJM, Unidade Genet Mol, Porto, Portugal Oxford Univ Hosp NHS Fdn Trust, Oxford Med Genet Labs, Oxford, England论文数: 引用数: h-index:机构:Tuffery-Giraud, Sylvie论文数: 0 引用数: 0 h-index: 0机构: Univ Montpellier, Lab Genet Rare Dis LGMR, Montpellier, France Oxford Univ Hosp NHS Fdn Trust, Oxford Med Genet Labs, Oxford, England论文数: 引用数: h-index:机构:
- [2] EMQN best practice guidelines for genetic testing in dystrophinopathiesEuropean Journal of Human Genetics, 2020, 28 : 1141 - 1159Carl Fratter论文数: 0 引用数: 0 h-index: 0机构: Oxford University Hospitals NHS Foundation Trust,Oxford Medical Genetics LaboratoriesRaymond Dalgleish论文数: 0 引用数: 0 h-index: 0机构: Oxford University Hospitals NHS Foundation Trust,Oxford Medical Genetics LaboratoriesStephanie K. Allen论文数: 0 引用数: 0 h-index: 0机构: Oxford University Hospitals NHS Foundation Trust,Oxford Medical Genetics LaboratoriesRosário Santos论文数: 0 引用数: 0 h-index: 0机构: Oxford University Hospitals NHS Foundation Trust,Oxford Medical Genetics LaboratoriesStephen Abbs论文数: 0 引用数: 0 h-index: 0机构: Oxford University Hospitals NHS Foundation Trust,Oxford Medical Genetics LaboratoriesSylvie Tuffery-Giraud论文数: 0 引用数: 0 h-index: 0机构: Oxford University Hospitals NHS Foundation Trust,Oxford Medical Genetics LaboratoriesAlessandra Ferlini论文数: 0 引用数: 0 h-index: 0机构: Oxford University Hospitals NHS Foundation Trust,Oxford Medical Genetics Laboratories
- [3] EMQN Best Practice Guidelines for molecular genetic testing of SCAsEuropean Journal of Human Genetics, 2010, 18 : 1173 - 1176Jorge Sequeiros论文数: 0 引用数: 0 h-index: 0机构: IBMC – Institute for Molecular and Cell Biology and ICBAS,Joanne Martindale论文数: 0 引用数: 0 h-index: 0机构: IBMC – Institute for Molecular and Cell Biology and ICBAS,Sara Seneca论文数: 0 引用数: 0 h-index: 0机构: IBMC – Institute for Molecular and Cell Biology and ICBAS,
- [4] Genetic testing for mitochondrial disease: the United Kingdom best practice guidelinesEuropean Journal of Human Genetics, 2023, 31 : 148 - 163Eleni Mavraki论文数: 0 引用数: 0 h-index: 0机构: NHS Highly Specialised Service for Rare Mitochondrial Disorders,Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical SciencesRobyn Labrum论文数: 0 引用数: 0 h-index: 0机构: NHS Highly Specialised Service for Rare Mitochondrial Disorders,Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical SciencesKate Sergeant论文数: 0 引用数: 0 h-index: 0机构: NHS Highly Specialised Service for Rare Mitochondrial Disorders,Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical SciencesCharlotte L. Alston论文数: 0 引用数: 0 h-index: 0机构: NHS Highly Specialised Service for Rare Mitochondrial Disorders,Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical SciencesCathy Woodward论文数: 0 引用数: 0 h-index: 0机构: NHS Highly Specialised Service for Rare Mitochondrial Disorders,Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical SciencesConrad Smith论文数: 0 引用数: 0 h-index: 0机构: NHS Highly Specialised Service for Rare Mitochondrial Disorders,Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical SciencesCharlotte V. Y. Knowles论文数: 0 引用数: 0 h-index: 0机构: NHS Highly Specialised Service for Rare Mitochondrial Disorders,Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical SciencesYogen Patel论文数: 0 引用数: 0 h-index: 0机构: NHS Highly Specialised Service for Rare Mitochondrial Disorders,Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical SciencesPhilip Hodsdon论文数: 0 引用数: 0 h-index: 0机构: NHS Highly Specialised Service for Rare Mitochondrial Disorders,Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical SciencesJack P. Baines论文数: 0 引用数: 0 h-index: 0机构: NHS Highly Specialised Service for Rare Mitochondrial Disorders,Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical SciencesEmma L. Blakely论文数: 0 引用数: 0 h-index: 0机构: NHS Highly Specialised Service for Rare Mitochondrial Disorders,Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical SciencesJames Polke论文数: 0 引用数: 0 h-index: 0机构: NHS Highly Specialised Service for Rare Mitochondrial Disorders,Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical SciencesRobert W. Taylor论文数: 0 引用数: 0 h-index: 0机构: NHS Highly Specialised Service for Rare Mitochondrial Disorders,Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical SciencesCarl Fratter论文数: 0 引用数: 0 h-index: 0机构: NHS Highly Specialised Service for Rare Mitochondrial Disorders,Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences
- [5] Genetic testing for mitochondrial disease: the United Kingdom best practice guidelinesEUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 (02) : 148 - 163Mavraki, Eleni论文数: 0 引用数: 0 h-index: 0机构: Newcastle Tyne Hosp NHS Fdn Trust, NHS Highly Specialised Serv Rare Mitochondrial Dis, Newcastle Upon Tyne, England Newcastle Univ, Translat & Clin Res Inst, Fac Med Sci, Wellcome Ctr Mitochondrial Res, Newcastle Upon Tyne, England Newcastle Tyne Hosp NHS Fdn Trust, NHS Highly Specialised Serv Rare Mitochondrial Dis, Newcastle Upon Tyne, EnglandLabrum, Robyn论文数: 0 引用数: 0 h-index: 0机构: Natl Hosp Neurol & Neurosurg, Neurogenet Unit, Queen Sq, London, England Newcastle Tyne Hosp NHS Fdn Trust, NHS Highly Specialised Serv Rare Mitochondrial Dis, Newcastle Upon Tyne, EnglandSergeant, Kate论文数: 0 引用数: 0 h-index: 0机构: Oxford Univ Hosp NHS Fdn Trust, Oxford Genet Labs, Oxford, England Newcastle Tyne Hosp NHS Fdn Trust, NHS Highly Specialised Serv Rare Mitochondrial Dis, Newcastle Upon Tyne, EnglandAlston, Charlotte L. L.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Tyne Hosp NHS Fdn Trust, NHS Highly Specialised Serv Rare Mitochondrial Dis, Newcastle Upon Tyne, England Newcastle Univ, Translat & Clin Res Inst, Fac Med Sci, Wellcome Ctr Mitochondrial Res, Newcastle Upon Tyne, England Newcastle Tyne Hosp NHS Fdn Trust, NHS Highly Specialised Serv Rare Mitochondrial Dis, Newcastle Upon Tyne, EnglandWoodward, Cathy论文数: 0 引用数: 0 h-index: 0机构: Natl Hosp Neurol & Neurosurg, Neurogenet Unit, Queen Sq, London, England Newcastle Tyne Hosp NHS Fdn Trust, NHS Highly Specialised Serv Rare Mitochondrial Dis, Newcastle Upon Tyne, EnglandSmith, Conrad论文数: 0 引用数: 0 h-index: 0机构: Oxford Univ Hosp NHS Fdn Trust, Oxford Genet Labs, Oxford, England Newcastle Tyne Hosp NHS Fdn Trust, NHS Highly Specialised Serv Rare Mitochondrial Dis, Newcastle Upon Tyne, EnglandKnowles, Charlotte V. Y.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Tyne Hosp NHS Fdn Trust, NHS Highly Specialised Serv Rare Mitochondrial Dis, Newcastle Upon Tyne, England Newcastle Univ, Translat & Clin Res Inst, Fac Med Sci, Wellcome Ctr Mitochondrial Res, Newcastle Upon Tyne, England Newcastle Tyne Hosp NHS Fdn Trust, NHS Highly Specialised Serv Rare Mitochondrial Dis, Newcastle Upon Tyne, EnglandPatel, Yogen论文数: 0 引用数: 0 h-index: 0机构: Natl Hosp Neurol & Neurosurg, Neurogenet Unit, Queen Sq, London, England Newcastle Tyne Hosp NHS Fdn Trust, NHS Highly Specialised Serv Rare Mitochondrial Dis, Newcastle Upon Tyne, EnglandHodsdon, Philip论文数: 0 引用数: 0 h-index: 0机构: Oxford Univ Hosp NHS Fdn Trust, Oxford Genet Labs, Oxford, England Newcastle Tyne Hosp NHS Fdn Trust, NHS Highly Specialised Serv Rare Mitochondrial Dis, Newcastle Upon Tyne, EnglandBaines, Jack P. P.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Tyne Hosp NHS Fdn Trust, NHS Highly Specialised Serv Rare Mitochondrial Dis, Newcastle Upon Tyne, England Newcastle Univ, Translat & Clin Res Inst, Fac Med Sci, Wellcome Ctr Mitochondrial Res, Newcastle Upon Tyne, England Newcastle Tyne Hosp NHS Fdn Trust, NHS Highly Specialised Serv Rare Mitochondrial Dis, Newcastle Upon Tyne, EnglandBlakely, Emma L. L.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Tyne Hosp NHS Fdn Trust, NHS Highly Specialised Serv Rare Mitochondrial Dis, Newcastle Upon Tyne, England Newcastle Univ, Translat & Clin Res Inst, Fac Med Sci, Wellcome Ctr Mitochondrial Res, Newcastle Upon Tyne, England Newcastle Tyne Hosp NHS Fdn Trust, NHS Highly Specialised Serv Rare Mitochondrial Dis, Newcastle Upon Tyne, EnglandPolke, James论文数: 0 引用数: 0 h-index: 0机构: Natl Hosp Neurol & Neurosurg, Neurogenet Unit, Queen Sq, London, England Newcastle Tyne Hosp NHS Fdn Trust, NHS Highly Specialised Serv Rare Mitochondrial Dis, Newcastle Upon Tyne, EnglandTaylor, Robert W. W.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Tyne Hosp NHS Fdn Trust, NHS Highly Specialised Serv Rare Mitochondrial Dis, Newcastle Upon Tyne, England Newcastle Univ, Translat & Clin Res Inst, Fac Med Sci, Wellcome Ctr Mitochondrial Res, Newcastle Upon Tyne, England Newcastle Tyne Hosp NHS Fdn Trust, NHS Highly Specialised Serv Rare Mitochondrial Dis, Newcastle Upon Tyne, EnglandFratter, Carl论文数: 0 引用数: 0 h-index: 0机构: Oxford Univ Hosp NHS Fdn Trust, Oxford Genet Labs, Oxford, England Newcastle Tyne Hosp NHS Fdn Trust, NHS Highly Specialised Serv Rare Mitochondrial Dis, Newcastle Upon Tyne, England
- [6] Genetic Testing for Mitochondrial Disease: The United Kingdom Best Practice GuidelinesEUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 642 - 643Mavraki, Eleni论文数: 0 引用数: 0 h-index: 0机构: Newcastle upon Tyne Hosp NHS Fdn Trust, NHS Highly Specialised Serv Rare Mitochondrial D, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, Fac Med Sci, Translat & Clin Res Inst, Wellcome Ctr Mitochondrial Res, Newcastle Upon Tyne, Tyne & Wear, England Newcastle upon Tyne Hosp NHS Fdn Trust, NHS Highly Specialised Serv Rare Mitochondrial D, Newcastle Upon Tyne, Tyne & Wear, EnglandLabrum, Robyn论文数: 0 引用数: 0 h-index: 0机构: Natl Hosp Neurol & Neurosurg, Neurogenet Unit, Queen Sq, London, England Newcastle upon Tyne Hosp NHS Fdn Trust, NHS Highly Specialised Serv Rare Mitochondrial D, Newcastle Upon Tyne, Tyne & Wear, EnglandSergeant, Kate论文数: 0 引用数: 0 h-index: 0机构: Oxford Univ Hosp NHS Fdn Trust, Oxford Genet Labs, Oxford, England Newcastle upon Tyne Hosp NHS Fdn Trust, NHS Highly Specialised Serv Rare Mitochondrial D, Newcastle Upon Tyne, Tyne & Wear, EnglandAlston, Charlotte论文数: 0 引用数: 0 h-index: 0机构: Newcastle upon Tyne Hosp NHS Fdn Trust, NHS Highly Specialised Serv Rare Mitochondrial D, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, Fac Med Sci, Translat & Clin Res Inst, Wellcome Ctr Mitochondrial Res, Newcastle Upon Tyne, Tyne & Wear, England Newcastle upon Tyne Hosp NHS Fdn Trust, NHS Highly Specialised Serv Rare Mitochondrial D, Newcastle Upon Tyne, Tyne & Wear, EnglandWoodward, Cathy论文数: 0 引用数: 0 h-index: 0机构: Natl Hosp Neurol & Neurosurg, Neurogenet Unit, Queen Sq, London, England Newcastle upon Tyne Hosp NHS Fdn Trust, NHS Highly Specialised Serv Rare Mitochondrial D, Newcastle Upon Tyne, Tyne & Wear, EnglandSmith, Conrad论文数: 0 引用数: 0 h-index: 0机构: Oxford Univ Hosp NHS Fdn Trust, Oxford Genet Labs, Oxford, England Newcastle upon Tyne Hosp NHS Fdn Trust, NHS Highly Specialised Serv Rare Mitochondrial D, Newcastle Upon Tyne, Tyne & Wear, EnglandKnowles, Charlotte论文数: 0 引用数: 0 h-index: 0机构: Newcastle upon Tyne Hosp NHS Fdn Trust, NHS Highly Specialised Serv Rare Mitochondrial D, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, Fac Med Sci, Translat & Clin Res Inst, Wellcome Ctr Mitochondrial Res, Newcastle Upon Tyne, Tyne & Wear, England Newcastle upon Tyne Hosp NHS Fdn Trust, NHS Highly Specialised Serv Rare Mitochondrial D, Newcastle Upon Tyne, Tyne & Wear, EnglandPatel, Yogen论文数: 0 引用数: 0 h-index: 0机构: Natl Hosp Neurol & Neurosurg, Neurogenet Unit, Queen Sq, London, England Newcastle upon Tyne Hosp NHS Fdn Trust, NHS Highly Specialised Serv Rare Mitochondrial D, Newcastle Upon Tyne, Tyne & Wear, EnglandHodsdon, Philip论文数: 0 引用数: 0 h-index: 0机构: Oxford Univ Hosp NHS Fdn Trust, Oxford Genet Labs, Oxford, England Newcastle upon Tyne Hosp NHS Fdn Trust, NHS Highly Specialised Serv Rare Mitochondrial D, Newcastle Upon Tyne, Tyne & Wear, England论文数: 引用数: h-index:机构:Blakely, Emma论文数: 0 引用数: 0 h-index: 0机构: Newcastle upon Tyne Hosp NHS Fdn Trust, NHS Highly Specialised Serv Rare Mitochondrial D, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, Fac Med Sci, Translat & Clin Res Inst, Wellcome Ctr Mitochondrial Res, Newcastle Upon Tyne, Tyne & Wear, England Newcastle upon Tyne Hosp NHS Fdn Trust, NHS Highly Specialised Serv Rare Mitochondrial D, Newcastle Upon Tyne, Tyne & Wear, EnglandPolke, James论文数: 0 引用数: 0 h-index: 0机构: Natl Hosp Neurol & Neurosurg, Neurogenet Unit, Queen Sq, London, England Newcastle upon Tyne Hosp NHS Fdn Trust, NHS Highly Specialised Serv Rare Mitochondrial D, Newcastle Upon Tyne, Tyne & Wear, EnglandTaylor, Robert论文数: 0 引用数: 0 h-index: 0机构: Newcastle upon Tyne Hosp NHS Fdn Trust, NHS Highly Specialised Serv Rare Mitochondrial D, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, Fac Med Sci, Translat & Clin Res Inst, Wellcome Ctr Mitochondrial Res, Newcastle Upon Tyne, Tyne & Wear, England Newcastle upon Tyne Hosp NHS Fdn Trust, NHS Highly Specialised Serv Rare Mitochondrial D, Newcastle Upon Tyne, Tyne & Wear, EnglandFratter, Carl论文数: 0 引用数: 0 h-index: 0机构: Newcastle upon Tyne Hosp NHS Fdn Trust, NHS Highly Specialised Serv Rare Mitochondrial D, Newcastle Upon Tyne, Tyne & Wear, England
- [7] Correction: Corrigendum to: EMQN Best Practice Guidelines for molecular genetic testing of SCAsEuropean Journal of Human Genetics, 2010, 18 (11) : 1176 - 1177Jorge Sequeiros论文数: 0 引用数: 0 h-index: 0机构: IBMC – Institute for Molecular and Cell Biology and ICBAS,Joanne Martindale论文数: 0 引用数: 0 h-index: 0机构: IBMC – Institute for Molecular and Cell Biology and ICBAS,Sara Seneca论文数: 0 引用数: 0 h-index: 0机构: IBMC – Institute for Molecular and Cell Biology and ICBAS,
- [8] EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancerEUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 (05) : 479 - 488McDevitt, Trudi论文数: 0 引用数: 0 h-index: 0机构: Dept Clin Genet, Childrens Hlth Ireland Crumlin, Dublin, Ireland Dept Clin Genet, Childrens Hlth Ireland Crumlin, Dublin, IrelandDurkie, Miranda论文数: 0 引用数: 0 h-index: 0机构: Sheffield Childrens NHS Fdn Trust Western Bank, Sheffield Diagnost Genet Serv, North East & Yorkshire Genom Lab Hub, Sheffield, England Dept Clin Genet, Childrens Hlth Ireland Crumlin, Dublin, IrelandArnold, Norbert论文数: 0 引用数: 0 h-index: 0机构: UKSH, Inst Clin Mol Biol, UKSH Campus Kiel, Gynecol & Obstet, Campus Kiel, Kiel, Germany Dept Clin Genet, Childrens Hlth Ireland Crumlin, Dublin, IrelandBurghel, George J.论文数: 0 引用数: 0 h-index: 0机构: Manchester Univ NHS Fdn Trust, North West Genom Lab Hub, Manchester, England Dept Clin Genet, Childrens Hlth Ireland Crumlin, Dublin, IrelandButler, Samantha论文数: 0 引用数: 0 h-index: 0机构: Birmingham Womens & Childrens NHS Fdn Trust, Cent & South Genom Lab Hub, West Midlands Reg Genet Lab, Birmingham, England Dept Clin Genet, Childrens Hlth Ireland Crumlin, Dublin, IrelandClaes, Kathleen B. M.论文数: 0 引用数: 0 h-index: 0机构: Ghent Univ Hosp, Ctr Med Genet, Ghent, Belgium Dept Clin Genet, Childrens Hlth Ireland Crumlin, Dublin, IrelandLogan, Peter论文数: 0 引用数: 0 h-index: 0机构: Reg Mol Diagnost Serv, Belfast Trust Labs, HSCNI, Belfast, North Ireland Dept Clin Genet, Childrens Hlth Ireland Crumlin, Dublin, IrelandRobinson, Rachel论文数: 0 引用数: 0 h-index: 0机构: Leeds Teaching Hosp NHS Trust, Genet Dept, Leeds, England Dept Clin Genet, Childrens Hlth Ireland Crumlin, Dublin, IrelandSheils, Katie论文数: 0 引用数: 0 h-index: 0机构: EMQN, Manchester, England Dept Clin Genet, Childrens Hlth Ireland Crumlin, Dublin, IrelandWolstenholme, Nicola论文数: 0 引用数: 0 h-index: 0机构: EMQN, Manchester, England Dept Clin Genet, Childrens Hlth Ireland Crumlin, Dublin, IrelandHanson, Helen论文数: 0 引用数: 0 h-index: 0机构: St Georges Univ Hosp NHS Fdn Trust, Clin Genet, London, England Dept Clin Genet, Childrens Hlth Ireland Crumlin, Dublin, IrelandTurnbull, Clare论文数: 0 引用数: 0 h-index: 0机构: Inst Canc Res, London, England Dept Clin Genet, Childrens Hlth Ireland Crumlin, Dublin, IrelandHume, Stacey论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Pathol & Lab Med, Vancouver, BC, Canada Dept Clin Genet, Childrens Hlth Ireland Crumlin, Dublin, Ireland
- [9] EMQN/CMGS best practice guidelines for the molecular genetic testing of Huntington diseaseEuropean Journal of Human Genetics, 2013, 21 : 480 - 486Monique Losekoot论文数: 0 引用数: 0 h-index: 0机构: Laboratory for Diagnostic Genome Analysis,Department of Clinical GeneticsMartine J van Belzen论文数: 0 引用数: 0 h-index: 0机构: Laboratory for Diagnostic Genome Analysis,Department of Clinical GeneticsSara Seneca论文数: 0 引用数: 0 h-index: 0机构: Laboratory for Diagnostic Genome Analysis,Department of Clinical GeneticsPeter Bauer论文数: 0 引用数: 0 h-index: 0机构: Laboratory for Diagnostic Genome Analysis,Department of Clinical GeneticsSusan A R Stenhouse论文数: 0 引用数: 0 h-index: 0机构: Laboratory for Diagnostic Genome Analysis,Department of Clinical GeneticsDavid E Barton论文数: 0 引用数: 0 h-index: 0机构: Laboratory for Diagnostic Genome Analysis,Department of Clinical Genetics
- [10] EMQN/CMGS best practice guidelines for the molecular genetic testing of Huntington diseaseEUROPEAN JOURNAL OF HUMAN GENETICS, 2013, 21 (05) : 480 - 486论文数: 引用数: h-index:机构:van Belzen, Martine J.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Clin Genet, Lab Diagnost Genome Anal, Leiden, Netherlands Leiden Univ, Med Ctr, Dept Clin Genet, Lab Diagnost Genome Anal, Leiden, NetherlandsSeneca, Sara论文数: 0 引用数: 0 h-index: 0机构: Vrije Univ Brussel, UZ Brussel, Ctr Med Genet, Brussels, Belgium Vrije Univ Brussel, Reprod & Genet REGE, Brussels, Belgium Leiden Univ, Med Ctr, Dept Clin Genet, Lab Diagnost Genome Anal, Leiden, NetherlandsBauer, Peter论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen Hosp, Dept Med Genet, Tubingen, Germany Leiden Univ, Med Ctr, Dept Clin Genet, Lab Diagnost Genome Anal, Leiden, NetherlandsStenhouse, Susan A. R.论文数: 0 引用数: 0 h-index: 0机构: Yorkhill Hosp, Duncan Guthrie Inst Med Genet, Glasgow, Lanark, Scotland Leiden Univ, Med Ctr, Dept Clin Genet, Lab Diagnost Genome Anal, Leiden, NetherlandsBarton, David E.论文数: 0 引用数: 0 h-index: 0机构: Univ Coll Dublin, Our Ladys Childrens Hosp, UCD Sch Med & Med Sci, Natl Ctr Med Genet, Dublin 2, Ireland Leiden Univ, Med Ctr, Dept Clin Genet, Lab Diagnost Genome Anal, Leiden, Netherlands