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- [1] Functional validation of TERT and TERC variants of uncertain significance in patients with short telomere syndromesBLOOD CANCER JOURNAL, 2020, 10 (11)Ferrer, Alejandro论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Ctr Individualized Med, Rochester, MN USA Mayo Clin, Dept Hlth Sci Res, Rochester, MN USA Mayo Clin, Ctr Individualized Med, Rochester, MN USAMangaonkar, Abhishek A.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Hematol, Rochester, MN 55905 USA Mayo Clin, Ctr Individualized Med, Rochester, MN USAStroik, Susanna论文数: 0 引用数: 0 h-index: 0机构: Univ Minnesota, Dept Biochem Mol Biol & Biophys, Minneapolis, MN 55455 USA Univ N Carolina, Lineberger Comprehens Canc Ctr, Chapel Hill, NC 27515 USA Mayo Clin, Ctr Individualized Med, Rochester, MN USAZimmermann, Michael T.论文数: 0 引用数: 0 h-index: 0机构: Med Coll Wisconsin, Genom Sci & Precis Med Ctr, Wauwatosa, WI USA Mayo Clin, Ctr Individualized Med, Rochester, MN USASigafoos, Ashley N.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Oncol, Rochester, MN USA Mayo Clin, Ctr Individualized Med, Rochester, MN USAKamath, Patrick S.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Gastroenterol, Rochester, MN USA Mayo Clin, Ctr Individualized Med, Rochester, MN USASimonetto, Douglas A.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Gastroenterol, Rochester, MN USA Mayo Clin, Ctr Individualized Med, Rochester, MN USAWylam, Mark E.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Pulm & Crit Care Med, Rochester, MN USA Mayo Clin, Ctr Individualized Med, Rochester, MN USACarmona, Eva M.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Pulm & Crit Care Med, Rochester, MN USA Mayo Clin, Ctr Individualized Med, Rochester, MN USALazaridis, Konstantinos N.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Ctr Individualized Med, Rochester, MN USA Mayo Clin, Dept Gastroenterol, Rochester, MN USA Mayo Clin, Ctr Individualized Med, Rochester, MN USAPeters, Steve论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Pulm & Crit Care Med, Rochester, MN USA Mayo Clin, Ctr Individualized Med, Rochester, MN USAStewart, Keith论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Ctr Individualized Med, Rochester, MN USA Mayo Clin, Dept Hlth Sci Res, Rochester, MN USA Mayo Clin, Ctr Individualized Med, Rochester, MN USAKlee, Eric W.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Ctr Individualized Med, Rochester, MN USA Mayo Clin, Dept Hlth Sci Res, Rochester, MN USA Mayo Clin, Ctr Individualized Med, Rochester, MN USAHendrickson, Eric A.论文数: 0 引用数: 0 h-index: 0机构: Univ Minnesota, Dept Biochem Mol Biol & Biophys, Minneapolis, MN 55455 USA Mayo Clin, Ctr Individualized Med, Rochester, MN USAPatnaik, Mrinal M.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Hematol, Rochester, MN 55905 USA Mayo Clin, Ctr Individualized Med, Rochester, MN USA
- [2] Functional Testing of Variants of Uncertain Significance in TERC, TERT,and RTEL1 from Adult Patients with Telomere Biology DisordersBLOOD, 2023, 142Simon, Rachel A.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Div Hematol, Rochester, MN USA Mayo Clin, Div Hematol, Rochester, MN USAFinke, Christy M.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Med, Div Hematol, Rochester, MN USA Mayo Clin, Div Hematol, Rochester, MN USALasho, Terra L.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Med, Div Hematol, Rochester, MN USA Mayo Clin, Div Hematol, Rochester, MN USASchmitz, Christopher T.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Biochem & Mol Biol, Rochester, MN USA Mayo Clin, Div Hematol, Rochester, MN USAFernandez, Jenna A.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Rochester, MN USA Mayo Clin, Div Hematol, Rochester, MN USACarmona-Porquera, Eva M.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Rochester, MN USA Mayo Clin, Div Hematol, Rochester, MN USAWylam, Mark E.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Pulm & Crit Care Med, Rochester, MN USA Mayo Clin, Div Hematol, Rochester, MN USAWitzig, Thomas E.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Div Hematol, Rochester, MN USA Mayo Clin, Div Hematol, Rochester, MN USAMcAllister, Tammy M.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Ctr Individualized Med, Rochester, MN USA Mayo Clin, Div Hematol, Rochester, MN USAVitek, Carolyn R. Rohrer论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Ctr Individualized Med, Rochester, MN USA Mayo Clin, Div Hematol, Rochester, MN USALazaridis, Konstantinos N.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Rochester, MN USA Mayo Clin, Div Hematol, Rochester, MN USAMangaonkar, Abhishek A.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Div Hematol, Rochester, MN USA Mayo Clin, Div Hematol, Rochester, MN USAPatnaik, Mrinal M.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Div Hematol, Rochester, MN USA Mayo Clin, Div Hematol, Rochester, MN USAFerrer, Alejandro论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Div Hematol, Rochester, MN USA Mayo Clin, Div Hematol, Rochester, MN USA
- [3] TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurementsBLOOD, 2009, 113 (02) : 309 - 316Du, Hong-Yan论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Dept Internal Med, St Louis, MO 63110 USA Washington Univ, Sch Med, Dept Internal Med, St Louis, MO 63110 USAPumbo, Elena论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Dept Internal Med, St Louis, MO 63110 USA Washington Univ, Sch Med, Dept Internal Med, St Louis, MO 63110 USAIvanovich, Jennifer论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Dept Surg, St Louis, MO 63110 USA Washington Univ, Sch Med, Dept Internal Med, St Louis, MO 63110 USAAn, Ping论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Dept Genet, St Louis, MO 63110 USA Washington Univ, Sch Med, Dept Internal Med, St Louis, MO 63110 USAMaziarz, Richard T.论文数: 0 引用数: 0 h-index: 0机构: Oregon Hlth & Sci Univ, Div Hematol, Portland, OR 97201 USA Washington Univ, Sch Med, Dept Internal Med, St Louis, MO 63110 USAReiss, Ulrike M.论文数: 0 引用数: 0 h-index: 0机构: St Jude Childrens Hosp, Memphis, TN 38105 USA Washington Univ, Sch Med, Dept Internal Med, St Louis, MO 63110 USAChirnomas, Deborah论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Boston, Dept Hematol, Boston, MA USA Washington Univ, Sch Med, Dept Internal Med, St Louis, MO 63110 USAShimamura, Akiko论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Boston, Dept Hematol, Boston, MA USA Washington Univ, Sch Med, Dept Internal Med, St Louis, MO 63110 USAVlachos, Adrianna论文数: 0 引用数: 0 h-index: 0机构: Schneider Childrens Hosp, Albert Einstein Coll Med, Feinstein Inst Med Res, New Hyde Pk, NY 11042 USA Washington Univ, Sch Med, Dept Internal Med, St Louis, MO 63110 USALipton, Jeffrey M.论文数: 0 引用数: 0 h-index: 0机构: Schneider Childrens Hosp, Albert Einstein Coll Med, Feinstein Inst Med Res, New Hyde Pk, NY 11042 USA Washington Univ, Sch Med, Dept Internal Med, St Louis, MO 63110 USAGoyal, Rakesh K.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Pittsburgh, Dept Pediat, Pittsburgh, PA USA Washington Univ, Sch Med, Dept Internal Med, St Louis, MO 63110 USAGoldman, Frederick论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Dept Pediat, Childrens Hosp, Iowa City, IA 52242 USA Washington Univ, Sch Med, Dept Internal Med, St Louis, MO 63110 USAWilson, David B.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Dept Internal Med, St Louis, MO 63110 USAMason, Philip J.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Dept Internal Med, St Louis, MO 63110 USA Washington Univ, Sch Med, Dept Internal Med, St Louis, MO 63110 USABessler, Monica论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Dept Internal Med, St Louis, MO 63110 USA Washington Univ, Sch Med, Dept Pediat, St Louis, MO 63110 USA Washington Univ, Sch Med, Dept Internal Med, St Louis, MO 63110 USA
- [4] Variants near TERT and TERC influencing telomere length are associated with high-grade glioma riskNATURE GENETICS, 2014, 46 (07) : 731 - 735Walsh, Kyle M.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Neurol Surg, Div Neuroepidemiol, San Francisco, CA 94132 USA Univ Calif San Francisco, Helen Diller Family Comprehens Canc Ctr, Program Canc Genet, San Francisco, CA USA Univ Calif San Francisco, Dept Neurol Surg, Div Neuroepidemiol, San Francisco, CA 94132 USACodd, Veryan论文数: 0 引用数: 0 h-index: 0机构: Univ Leicester, Dept Cardiovasc Sci, Leicester, Leics, England Glenfield Hosp, Nat Inst Hlth Res, Leicester Cardiovasc Biomed Res Unit, Leicester, Leics, England Univ Calif San Francisco, Dept Neurol Surg, Div Neuroepidemiol, San Francisco, CA 94132 USASmirnov, Ivan V.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Neurol Surg, San Francisco, CA USA Univ Calif San Francisco, Dept Neurol Surg, Div Neuroepidemiol, San Francisco, CA 94132 USARice, Terri论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Neurol Surg, Div Neuroepidemiol, San Francisco, CA 94132 USA Univ Calif San Francisco, Dept Neurol Surg, Div Neuroepidemiol, San Francisco, CA 94132 USADecker, Paul A.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Coll Med, Div Biomed Stat & Informat, Rochester, MN USA Univ Calif San Francisco, Dept Neurol Surg, Div Neuroepidemiol, San Francisco, CA 94132 USAHansen, Helen M.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Neurol Surg, Div Neuroepidemiol, San Francisco, CA 94132 USA Univ Calif San Francisco, Dept Neurol Surg, Div Neuroepidemiol, San Francisco, CA 94132 USAKollmeyer, Thomas论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Coll Med, Dept Lab Med & Pathol, Rochester, MN USA Univ Calif San Francisco, Dept Neurol Surg, Div Neuroepidemiol, San Francisco, CA 94132 USAKosel, Matthew L.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Coll Med, Div Biomed Stat & Informat, Rochester, MN USA Univ Calif San Francisco, Dept Neurol Surg, Div Neuroepidemiol, San Francisco, CA 94132 USAMolinaro, Annette M.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Neurol Surg, San Francisco, CA USA Univ Calif San Francisco, Dept Neurol Surg, Div Neuroepidemiol, San Francisco, CA 94132 USAMcCoy, Lucie S.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Neurol Surg, Div Neuroepidemiol, San Francisco, CA 94132 USA Univ Calif San Francisco, Dept Neurol Surg, Div Neuroepidemiol, San Francisco, CA 94132 USABracci, Paige M.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Epidemiol & Biostat, San Francisco, CA 94143 USA Univ Calif San Francisco, Dept Neurol Surg, Div Neuroepidemiol, San Francisco, CA 94132 USACabriga, Belinda S.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Neurol Surg, Div Neuroepidemiol, San Francisco, CA 94132 USA Univ Calif San Francisco, Dept Neurol Surg, Div Neuroepidemiol, San Francisco, CA 94132 USAPekmezci, Melike论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Pathol, San Francisco, CA 94140 USA Univ Calif San Francisco, Dept Neurol Surg, Div Neuroepidemiol, San Francisco, CA 94132 USAZheng, Shichun论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Neurol Surg, Div Neuroepidemiol, San Francisco, CA 94132 USA Univ Calif San Francisco, Dept Neurol Surg, Div Neuroepidemiol, San Francisco, CA 94132 USAWiemels, Joseph L.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Neurol Surg, Div Neuroepidemiol, San Francisco, CA 94132 USA Univ Calif San Francisco, Dept Epidemiol & Biostat, San Francisco, CA 94143 USA Univ Calif San Francisco, Inst Human Genet, San Francisco, CA USA Univ Calif San Francisco, Dept Neurol Surg, Div Neuroepidemiol, San Francisco, CA 94132 USAPico, Alexander R.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Neurol Surg, Div Neuroepidemiol, San Francisco, CA 94132 USA Gladstone Inst, Dept Bioinformat, San Francisco, CA USA Univ Calif San Francisco, Dept Neurol Surg, Div Neuroepidemiol, San Francisco, CA 94132 USATihan, Tarik论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Pathol, San Francisco, CA 94140 USA Univ Calif San Francisco, Dept Neurol Surg, Div Neuroepidemiol, San Francisco, CA 94132 USABerger, Mitchell S.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Neurol Surg, San Francisco, CA USA Univ Calif San Francisco, Dept Neurol Surg, Div Neuroepidemiol, San Francisco, CA 94132 USAChang, Susan M.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Neurol Surg, San Francisco, CA USA Univ Calif San Francisco, Dept Neurol Surg, Div Neuroepidemiol, San Francisco, CA 94132 USAPrados, Michael D.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Neurol Surg, San Francisco, CA USA Univ Calif San Francisco, Dept Neurol Surg, Div Neuroepidemiol, San Francisco, CA 94132 USALachance, Daniel H.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Coll Med, Dept Neurol, Rochester, MN USA Univ Calif San Francisco, Dept Neurol Surg, Div Neuroepidemiol, San Francisco, CA 94132 USAO'Neill, Brain Patrick论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Coll Med, Dept Neurol, Rochester, MN USA Univ Calif San Francisco, Dept Neurol Surg, Div Neuroepidemiol, San Francisco, CA 94132 USASicotte, Hugues论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Coll Med, Div Biomed Stat & Informat, Rochester, MN USA Univ Calif San Francisco, Dept Neurol Surg, Div Neuroepidemiol, San Francisco, CA 94132 USAEckel-Passow, Jeanette E.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Coll Med, Div Biomed Stat & Informat, Rochester, MN USA Univ Calif San Francisco, Dept Neurol Surg, Div Neuroepidemiol, San Francisco, CA 94132 USA论文数: 引用数: h-index:机构:Wiencke, John K.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Neurol Surg, Div Neuroepidemiol, San Francisco, CA 94132 USA Univ Calif San Francisco, Inst Human Genet, San Francisco, CA USA Univ Calif San Francisco, Dept Neurol Surg, Div Neuroepidemiol, San Francisco, CA 94132 USASamani, Nilesh J.论文数: 0 引用数: 0 h-index: 0机构: Univ Leicester, Dept Cardiovasc Sci, Leicester, Leics, England Glenfield Hosp, Nat Inst Hlth Res, Leicester Cardiovasc Biomed Res Unit, Leicester, Leics, England Univ Calif San Francisco, Dept Neurol Surg, Div Neuroepidemiol, San Francisco, CA 94132 USAJenkins, Robert B.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Coll Med, Dept Lab Med & Pathol, Rochester, MN USA Univ Calif San Francisco, Dept Neurol Surg, Div Neuroepidemiol, San Francisco, CA 94132 USAWrensch, Margaret R.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Neurol Surg, Div Neuroepidemiol, San Francisco, CA 94132 USA Univ Calif San Francisco, Inst Human Genet, San Francisco, CA USA Univ Calif San Francisco, Dept Neurol Surg, Div Neuroepidemiol, San Francisco, CA 94132 USA
- [5] Variants near TERT and TERC influencing telomere length are associated with high-grade glioma riskNature Genetics, 2014, 46 : 731 - 735Kyle M Walsh论文数: 0 引用数: 0 h-index: 0机构: University of California,Division of Neuroepidemiology, Department of Neurological SurgeryVeryan Codd论文数: 0 引用数: 0 h-index: 0机构: University of California,Division of Neuroepidemiology, Department of Neurological SurgeryIvan V Smirnov论文数: 0 引用数: 0 h-index: 0机构: University of California,Division of Neuroepidemiology, Department of Neurological SurgeryTerri Rice论文数: 0 引用数: 0 h-index: 0机构: University of California,Division of Neuroepidemiology, Department of Neurological SurgeryPaul A Decker论文数: 0 引用数: 0 h-index: 0机构: University of California,Division of Neuroepidemiology, Department of Neurological SurgeryHelen M Hansen论文数: 0 引用数: 0 h-index: 0机构: University of California,Division of Neuroepidemiology, Department of Neurological SurgeryThomas Kollmeyer论文数: 0 引用数: 0 h-index: 0机构: University of California,Division of Neuroepidemiology, Department of Neurological SurgeryMatthew L Kosel论文数: 0 引用数: 0 h-index: 0机构: University of California,Division of Neuroepidemiology, Department of Neurological SurgeryAnnette M Molinaro论文数: 0 引用数: 0 h-index: 0机构: University of California,Division of Neuroepidemiology, Department of Neurological SurgeryLucie S McCoy论文数: 0 引用数: 0 h-index: 0机构: University of California,Division of Neuroepidemiology, Department of Neurological SurgeryPaige M Bracci论文数: 0 引用数: 0 h-index: 0机构: University of California,Division of Neuroepidemiology, Department of Neurological SurgeryBelinda S Cabriga论文数: 0 引用数: 0 h-index: 0机构: University of California,Division of Neuroepidemiology, Department of Neurological SurgeryMelike Pekmezci论文数: 0 引用数: 0 h-index: 0机构: University of California,Division of Neuroepidemiology, Department of Neurological SurgeryShichun Zheng论文数: 0 引用数: 0 h-index: 0机构: University of California,Division of Neuroepidemiology, Department of Neurological SurgeryJoseph L Wiemels论文数: 0 引用数: 0 h-index: 0机构: University of California,Division of Neuroepidemiology, Department of Neurological SurgeryAlexander R Pico论文数: 0 引用数: 0 h-index: 0机构: University of California,Division of Neuroepidemiology, Department of Neurological SurgeryTarik Tihan论文数: 0 引用数: 0 h-index: 0机构: University of California,Division of Neuroepidemiology, Department of Neurological SurgeryMitchell S Berger论文数: 0 引用数: 0 h-index: 0机构: University of California,Division of Neuroepidemiology, Department of Neurological SurgerySusan M Chang论文数: 0 引用数: 0 h-index: 0机构: University of California,Division of Neuroepidemiology, Department of Neurological SurgeryMichael D Prados论文数: 0 引用数: 0 h-index: 0机构: University of California,Division of Neuroepidemiology, Department of Neurological SurgeryDaniel H Lachance论文数: 0 引用数: 0 h-index: 0机构: University of California,Division of Neuroepidemiology, Department of Neurological SurgeryBrian Patrick O'Neill论文数: 0 引用数: 0 h-index: 0机构: University of California,Division of Neuroepidemiology, Department of Neurological SurgeryHugues Sicotte论文数: 0 引用数: 0 h-index: 0机构: University of California,Division of Neuroepidemiology, Department of Neurological SurgeryJeanette E Eckel-Passow论文数: 0 引用数: 0 h-index: 0机构: University of California,Division of Neuroepidemiology, Department of Neurological SurgeryPim van der Harst论文数: 0 引用数: 0 h-index: 0机构: University of California,Division of Neuroepidemiology, Department of Neurological SurgeryJohn K Wiencke论文数: 0 引用数: 0 h-index: 0机构: University of California,Division of Neuroepidemiology, Department of Neurological SurgeryNilesh J Samani论文数: 0 引用数: 0 h-index: 0机构: University of California,Division of Neuroepidemiology, Department of Neurological SurgeryRobert B Jenkins论文数: 0 引用数: 0 h-index: 0机构: University of California,Division of Neuroepidemiology, Department of Neurological SurgeryMargaret R Wrensch论文数: 0 引用数: 0 h-index: 0机构: University of California,Division of Neuroepidemiology, Department of Neurological Surgery
- [6] Bone Marrow Failure Associated with Short Telomeres and Digenic Variants of Uncertain Significance in Telomere Biology GenesBLOOD, 2023, 142Vadivelan, Akhila论文数: 0 引用数: 0 h-index: 0机构: UCLA, Div Pediat Hematol Oncol, Los Angeles, CA USA Jonsson Comprehens Canc Ctr, Los Angeles, CA 90034 USA UCLA, Div Pediat Hematol Oncol, Los Angeles, CA USAMartinez, Julian论文数: 0 引用数: 0 h-index: 0机构: UCLA, Dept Human Genet, Los Angeles, CA USA UCLA, Div Pediat Hematol Oncol, Los Angeles, CA USADe Oliveira, Satiro论文数: 0 引用数: 0 h-index: 0机构: UCLA, Div Pediat Hematol Oncol, Los Angeles, CA USA Jonsson Comprehens Canc Ctr, Los Angeles, CA 90034 USA UCLA, Div Pediat Hematol Oncol, Los Angeles, CA USAMoore, Theodore论文数: 0 引用数: 0 h-index: 0机构: Jonsson Comprehens Canc Ctr, Los Angeles, CA 90034 USA Univ Calif Los Angeles, Los Angeles, CA USA UCLA, Div Pediat Hematol Oncol, Los Angeles, CA USAIkeda, Alan论文数: 0 引用数: 0 h-index: 0机构: Care Kids Hospice & Palliat Care, Las Vegas, NV USA UCLA, Div Pediat Hematol Oncol, Los Angeles, CA USAAubert, Geraldine论文数: 0 引用数: 0 h-index: 0机构: Repeat Dx, N Vancouver, BC, Canada UCLA, Div Pediat Hematol Oncol, Los Angeles, CA USAChang, Vivian Y.论文数: 0 引用数: 0 h-index: 0机构: UCLA, Div Pediat Hematol Oncol, Los Angeles, CA USA Jonsson Comprehens Canc Ctr, Los Angeles, CA 90034 USA UCLA, Precis Hlth Inst, Los Angeles, CA USA UCLA, Div Pediat Hematol Oncol, Los Angeles, CA USA
- [7] Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significanceHUMAN MUTATION, 2021, 42 (03) : 310 - 319Stenton, Sarah L.论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Human Genet, Munich, Germany Helmholtz Zentrum Munchen, Inst Neurogen, Munich, Germany Tech Univ Munich, Inst Human Genet, Munich, GermanyPiekutowska-Abramczuk, Dorota论文数: 0 引用数: 0 h-index: 0机构: Childrens Mem Hlth Inst CMHI Warsaw, Dept Med Genet, Warsaw, Poland Tech Univ Munich, Inst Human Genet, Munich, GermanyKulterer, Lea论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Human Genet, Munich, Germany Helmholtz Zentrum Munchen, Inst Neurogen, Munich, Germany Tech Univ Munich, Inst Human Genet, Munich, GermanyKopajtich, Robert论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Human Genet, Munich, Germany Helmholtz Zentrum Munchen, Inst Neurogen, Munich, Germany Tech Univ Munich, Inst Human Genet, Munich, GermanyClaeys, Kristl G.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Leuven, Dept Neurol, Leuven, Belgium Katholieke Univ Leuven, Dept Neurosci, Lab Muscle Dis & Neuropathies, Leuven, Belgium Tech Univ Munich, Inst Human Genet, Munich, GermanyCiara, Elzbieta论文数: 0 引用数: 0 h-index: 0机构: Childrens Mem Hlth Inst CMHI Warsaw, Dept Med Genet, Warsaw, Poland Tech Univ Munich, Inst Human Genet, Munich, GermanyEisen, Johannes论文数: 0 引用数: 0 h-index: 0机构: Klinikum Frankfurt Hochst, Frankfurt, Germany Tech Univ Munich, Inst Human Genet, Munich, GermanyPloski, Rafal论文数: 0 引用数: 0 h-index: 0机构: Med Univ Warsaw, Dept Med Genet, Warsaw, Poland Tech Univ Munich, Inst Human Genet, Munich, GermanyPronicka, Ewa论文数: 0 引用数: 0 h-index: 0机构: Childrens Mem Hlth Inst CMHI Warsaw, Dept Med Genet, Warsaw, Poland Tech Univ Munich, Inst Human Genet, Munich, GermanyMalczyk, Katarzyna论文数: 0 引用数: 0 h-index: 0机构: Childrens Mem Hlth Inst CMHI Warsaw, Dept Diagnost Imaging, Warsaw, Poland Tech Univ Munich, Inst Human Genet, Munich, GermanyWagner, Matias论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Human Genet, Munich, Germany Helmholtz Zentrum Munchen, Inst Neurogen, Munich, Germany Tech Univ Munich, Inst Human Genet, Munich, GermanyWortmann, Saskia B.论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Human Genet, Munich, Germany Helmholtz Zentrum Munchen, Inst Neurogen, Munich, Germany Salzburger Landeskliniken, Dept Pediat, Salzburg, Austria Paracelsus Med Univ, Salzburg, Austria Radboudumc, Amalia Childrens Hosp, Radboud Ctr Mitochondrial Dis RCMM, Nijmegen, Netherlands Tech Univ Munich, Inst Human Genet, Munich, GermanyProkisch, Holger论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Human Genet, Munich, Germany Helmholtz Zentrum Munchen, Inst Neurogen, Munich, Germany Tech Univ Munich, Inst Human Genet, Munich, Germany
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