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- [1] Identification of a Novel de Novo Variant in the CASZ1 Causing a Rare Type of Dilated CardiomyopathyINTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2022, 23 (20)Orlova, Anna论文数: 0 引用数: 0 h-index: 0机构: Fed State Budgetary Sci Inst Res Ctr Med Genet, SRC Genome, Moscow 115522, Russia Fed State Budgetary Sci Inst Res Ctr Med Genet, SRC Genome, Moscow 115522, RussiaGuseva, Daria论文数: 0 引用数: 0 h-index: 0机构: Fed State Budgetary Sci Inst Res Ctr Med Genet, Counselling Unit, Moscow 115522, Russia Fed State Budgetary Sci Inst Res Ctr Med Genet, SRC Genome, Moscow 115522, RussiaRyzhkova, Oxana论文数: 0 引用数: 0 h-index: 0机构: Fed State Budgetary Sci Inst Res Ctr Med Genet, SRC Genome, Moscow 115522, Russia Fed State Budgetary Sci Inst Res Ctr Med Genet, Lab Mol Genet Diag 3, Moscow 115522, Russia Fed State Budgetary Sci Inst Res Ctr Med Genet, SRC Genome, Moscow 115522, Russia
- [2] A novel de novo CASZ1 heterozygous frameshift variant causes dilated cardiomyopathy and left ventricular noncompaction cardiomyopathyMOLECULAR GENETICS & GENOMIC MEDICINE, 2019, 7 (08):Guo, Jun论文数: 0 引用数: 0 h-index: 0机构: Capital Med Univ, Natl Ctr Childrens Hlth,Beijing Childrens Hosp, Beijing Key Lab Genet Birth Defects,Genet & Birth, Beijing Pediat Res Inst,MOE Key Lab Major Dis Chi, Beijing, Peoples R China Beijing Childrens Hosp, Zhengzhou Hosp, Henan Childrens Hosp, Henan Key Lab Pediat Inherited & Metab Dis, Zhengzhou, Henan, Peoples R China Capital Med Univ, Natl Ctr Childrens Hlth,Beijing Childrens Hosp, Beijing Key Lab Genet Birth Defects,Genet & Birth, Beijing Pediat Res Inst,MOE Key Lab Major Dis Chi, Beijing, Peoples R ChinaLi, Zheng论文数: 0 引用数: 0 h-index: 0机构: Capital Med Univ, Beijing Childrens Hosp, Natl Ctr Childrens Hlth, Pediat Intens Care Unit, Beijing, Peoples R China Capital Med Univ, Natl Ctr Childrens Hlth,Beijing Childrens Hosp, Beijing Key Lab Genet Birth Defects,Genet & Birth, Beijing Pediat Res Inst,MOE Key Lab Major Dis Chi, Beijing, Peoples R ChinaHao, Chanjuan论文数: 0 引用数: 0 h-index: 0机构: Capital Med Univ, Natl Ctr Childrens Hlth,Beijing Childrens Hosp, Beijing Key Lab Genet Birth Defects,Genet & Birth, Beijing Pediat Res Inst,MOE Key Lab Major Dis Chi, Beijing, Peoples R China Beijing Childrens Hosp, Zhengzhou Hosp, Henan Childrens Hosp, Henan Key Lab Pediat Inherited & Metab Dis, Zhengzhou, Henan, Peoples R China Capital Med Univ, Natl Ctr Childrens Hlth,Beijing Childrens Hosp, Beijing Key Lab Genet Birth Defects,Genet & Birth, Beijing Pediat Res Inst,MOE Key Lab Major Dis Chi, Beijing, Peoples R ChinaGuo, Ruolan论文数: 0 引用数: 0 h-index: 0机构: Capital Med Univ, Natl Ctr Childrens Hlth,Beijing Childrens Hosp, Beijing Key Lab Genet Birth Defects,Genet & Birth, Beijing Pediat Res Inst,MOE Key Lab Major Dis Chi, Beijing, Peoples R China Beijing Childrens Hosp, Zhengzhou Hosp, Henan Childrens Hosp, Henan Key Lab Pediat Inherited & Metab Dis, Zhengzhou, Henan, Peoples R China Capital Med Univ, Natl Ctr Childrens Hlth,Beijing Childrens Hosp, Beijing Key Lab Genet Birth Defects,Genet & Birth, Beijing Pediat Res Inst,MOE Key Lab Major Dis Chi, Beijing, Peoples R ChinaHu, Xuyun论文数: 0 引用数: 0 h-index: 0机构: Capital Med Univ, Natl Ctr Childrens Hlth,Beijing Childrens Hosp, Beijing Key Lab Genet Birth Defects,Genet & Birth, Beijing Pediat Res Inst,MOE Key Lab Major Dis Chi, Beijing, Peoples R China Beijing Childrens Hosp, Zhengzhou Hosp, Henan Childrens Hosp, Henan Key Lab Pediat Inherited & Metab Dis, Zhengzhou, Henan, Peoples R China Capital Med Univ, Natl Ctr Childrens Hlth,Beijing Childrens Hosp, Beijing Key Lab Genet Birth Defects,Genet & Birth, Beijing Pediat Res Inst,MOE Key Lab Major Dis Chi, Beijing, Peoples R ChinaQian, Suyun论文数: 0 引用数: 0 h-index: 0机构: Capital Med Univ, Beijing Childrens Hosp, Natl Ctr Childrens Hlth, Pediat Intens Care Unit, Beijing, Peoples R China Capital Med Univ, Natl Ctr Childrens Hlth,Beijing Childrens Hosp, Beijing Key Lab Genet Birth Defects,Genet & Birth, Beijing Pediat Res Inst,MOE Key Lab Major Dis Chi, Beijing, Peoples R ChinaZeng, Jiansheng论文数: 0 引用数: 0 h-index: 0机构: Capital Med Univ, Beijing Childrens Hosp, Natl Ctr Childrens Hlth, Pediat Intens Care Unit, Beijing, Peoples R China Capital Med Univ, Natl Ctr Childrens Hlth,Beijing Childrens Hosp, Beijing Key Lab Genet Birth Defects,Genet & Birth, Beijing Pediat Res Inst,MOE Key Lab Major Dis Chi, Beijing, Peoples R ChinaGao, Hengmiao论文数: 0 引用数: 0 h-index: 0机构: Capital Med Univ, Beijing Childrens Hosp, Natl Ctr Childrens Hlth, Pediat Intens Care Unit, Beijing, Peoples R China Capital Med Univ, Natl Ctr Childrens Hlth,Beijing Childrens Hosp, Beijing Key Lab Genet Birth Defects,Genet & Birth, Beijing Pediat Res Inst,MOE Key Lab Major Dis Chi, Beijing, Peoples R ChinaLi, Wei论文数: 0 引用数: 0 h-index: 0机构: Capital Med Univ, Natl Ctr Childrens Hlth,Beijing Childrens Hosp, Beijing Key Lab Genet Birth Defects,Genet & Birth, Beijing Pediat Res Inst,MOE Key Lab Major Dis Chi, Beijing, Peoples R China Beijing Childrens Hosp, Zhengzhou Hosp, Henan Childrens Hosp, Henan Key Lab Pediat Inherited & Metab Dis, Zhengzhou, Henan, Peoples R China Capital Med Univ, Natl Ctr Childrens Hlth,Beijing Childrens Hosp, Beijing Key Lab Genet Birth Defects,Genet & Birth, Beijing Pediat Res Inst,MOE Key Lab Major Dis Chi, Beijing, Peoples R China
- [3] Functional assays reveal the pathogenic mechanism of a de novo tropomyosin variant identified in patient with dilated cardiomyopathyJOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY, 2023, 176 : 58 - 67Barrick, Samantha K.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Dept Biochem & Mol Biophys, 660 S Euclid Ave,Campus Box 8231, St Louis, MO 63110 USA Washington Univ, Sch Med, Dept Biochem & Mol Biophys, 660 S Euclid Ave,Campus Box 8231, St Louis, MO 63110 USAGarg, Ankit论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Dept Biochem & Mol Biophys, 660 S Euclid Ave,Campus Box 8231, St Louis, MO 63110 USA Washington Univ, Sch Med, Ctr Cardiovasc Res, Dept Med,Div Cardiol, St Louis, MO 63110 USA Washington Univ, Sch Med, Dept Biochem & Mol Biophys, 660 S Euclid Ave,Campus Box 8231, St Louis, MO 63110 USAGreenberg, Lina论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Dept Biochem & Mol Biophys, 660 S Euclid Ave,Campus Box 8231, St Louis, MO 63110 USA Washington Univ, Sch Med, Dept Biochem & Mol Biophys, 660 S Euclid Ave,Campus Box 8231, St Louis, MO 63110 USAZhang, Shanshan论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Dept Biochem & Mol Biophys, 660 S Euclid Ave,Campus Box 8231, St Louis, MO 63110 USA Washington Univ, Sch Med, Dept Biochem & Mol Biophys, 660 S Euclid Ave,Campus Box 8231, St Louis, MO 63110 USALin, Chieh-Yu论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Dept Pathol & Immunol, St Louis, MO 63110 USA Washington Univ, Sch Med, Dept Biochem & Mol Biophys, 660 S Euclid Ave,Campus Box 8231, St Louis, MO 63110 USAStitziel, Nathan O.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Ctr Cardiovasc Res, Dept Med,Div Cardiol, St Louis, MO 63110 USA Washington Univ, Sch Med, Dept Genet, St Louis, MO 63110 USA Washington Univ, McDonnell Genome Inst, Sch Med, St Louis, MO 63110 USA Washington Univ, Sch Med, Dept Biochem & Mol Biophys, 660 S Euclid Ave,Campus Box 8231, St Louis, MO 63110 USAGreenberg, Michael J.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Dept Biochem & Mol Biophys, 660 S Euclid Ave,Campus Box 8231, St Louis, MO 63110 USA Washington Univ, Sch Med, Dept Biochem & Mol Biophys, 660 S Euclid Ave,Campus Box 8231, St Louis, MO 63110 USA
- [4] De novo TINF2 C.845G>A: Pathogenic Variant in Patient with Dyskeratosis CongenitaBALKAN JOURNAL OF MEDICAL GENETICS, 2021, 24 (02) : 89 - 93Kocheva, S. A.论文数: 0 引用数: 0 h-index: 0机构: Ss Cyril & Methodius Univ Skopje, Fac Med, Pediat Clin Childrens Dis, Skopje, North Macedonia Ss Cyril & Methodius Univ Skopje, Fac Med, Pediat Clin Childrens Dis, Skopje, North MacedoniaGjorgjievska, M.论文数: 0 引用数: 0 h-index: 0机构: Macedonian Acad Sci & Arts, Res Ctr Genet Engn & Biotechnol Georgi D Efremov, Skopje, North Macedonia Ss Cyril & Methodius Univ Skopje, Fac Med, Pediat Clin Childrens Dis, Skopje, North MacedoniaMartinova, K.论文数: 0 引用数: 0 h-index: 0机构: Ss Cyril & Methodius Univ Skopje, Fac Med, Pediat Clin Childrens Dis, Skopje, North Macedonia Ss Cyril & Methodius Univ Skopje, Fac Med, Pediat Clin Childrens Dis, Skopje, North MacedoniaAntevska-Trajkova, Z.论文数: 0 引用数: 0 h-index: 0机构: Ss Cyril & Methodius Univ Skopje, Fac Med, Pediat Clin Childrens Dis, Skopje, North Macedonia Ss Cyril & Methodius Univ Skopje, Fac Med, Pediat Clin Childrens Dis, Skopje, North MacedoniaJovanovska, A.论文数: 0 引用数: 0 h-index: 0机构: Ss Cyril & Methodius Univ Skopje, Fac Med, Pediat Clin Childrens Dis, Skopje, North Macedonia Ss Cyril & Methodius Univ Skopje, Fac Med, Pediat Clin Childrens Dis, Skopje, North Macedonia论文数: 引用数: h-index:机构:
- [5] Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 2023,Mei, Davide论文数: 0 引用数: 0 h-index: 0机构: Meyer Childrens Hosp IRCCS, Neurosci Dept, Paediat Neurol Unit & Labs, Florence, Italy Meyer Childrens Hosp IRCCS, Neurosci Dept, Paediat Neurol Unit & Labs, Florence, ItalyParrini, Elena论文数: 0 引用数: 0 h-index: 0机构: Meyer Childrens Hosp IRCCS, Neurosci Dept, Paediat Neurol Unit & Labs, Florence, Italy Meyer Childrens Hosp IRCCS, Neurosci Dept, Paediat Neurol Unit & Labs, Florence, ItalyBianchini, Claudia论文数: 0 引用数: 0 h-index: 0机构: Meyer Childrens Hosp IRCCS, Neurosci Dept, Paediat Neurol Unit & Labs, Florence, Italy Meyer Childrens Hosp IRCCS, Neurosci Dept, Paediat Neurol Unit & Labs, Florence, ItalyRicci, Maria Luisa论文数: 0 引用数: 0 h-index: 0机构: Meyer Childrens Hosp IRCCS, Neurosci Dept, Paediat Neurol Unit & Labs, Florence, Italy Meyer Childrens Hosp IRCCS, Neurosci Dept, Paediat Neurol Unit & Labs, Florence, ItalyGuerrini, Renzo论文数: 0 引用数: 0 h-index: 0机构: Meyer Childrens Hosp IRCCS, Neurosci Dept, Paediat Neurol Unit & Labs, Florence, Italy Univ Florence, Florence, Italy Meyer Childrens Hosp IRCCS, Neurosci Dept, Paediat Neurol Unit & Labs, Florence, Italy
- [6] The first titin (c.59926+1G > A) founder mutation associated with dilated cardiomyopathyEUROPEAN JOURNAL OF HEART FAILURE, 2018, 20 (04) : 803 - +Hoorntje, Edgar T.论文数: 0 引用数: 0 h-index: 0机构: Univ Groningen, Univ Med Ctr Groningen, Dept Genet, Groningen, Netherlands Netherlands Heart Inst, Utrecht, Netherlands Univ Groningen, Univ Med Ctr Groningen, Dept Genet, Groningen, Netherlandsvan Spaendonck-Zwarts, Karin Y.论文数: 0 引用数: 0 h-index: 0机构: Univ Amsterdam, Acad Med Ctr, Dept Clin Genet, Amsterdam, Netherlands Univ Groningen, Univ Med Ctr Groningen, Dept Genet, Groningen, NetherlandsRijdt, Wouter P. te论文数: 0 引用数: 0 h-index: 0机构: Univ Groningen, Univ Med Ctr Groningen, Dept Cardiol, Groningen, Netherlands Univ Groningen, Univ Med Ctr Groningen, Dept Genet, Groningen, NetherlandsBoven, Ludolf论文数: 0 引用数: 0 h-index: 0机构: Univ Groningen, Univ Med Ctr Groningen, Dept Genet, Groningen, Netherlands Univ Groningen, Univ Med Ctr Groningen, Dept Genet, Groningen, NetherlandsVink, Aryan论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Pathol, Utrecht, Netherlands Univ Groningen, Univ Med Ctr Groningen, Dept Genet, Groningen, Netherlandsvan der Smagt, Jasper J.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Genet, Utrecht, Netherlands Univ Groningen, Univ Med Ctr Groningen, Dept Genet, Groningen, NetherlandsAsselbergs, FolkertW.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Cardiol, Div Heart & Lungs, Utrecht, Netherlands Netherlands Heart Inst, Durrer Ctr Cardiovasc Res, Utrecht, Netherlands UCL, Inst Cardiovasc Sci, Fac Populat Hlth Sci, London, England Univ Groningen, Univ Med Ctr Groningen, Dept Genet, Groningen, Netherlandsvan Wijngaarden, Jan论文数: 0 引用数: 0 h-index: 0机构: Deventer Hosp, Dept Cardiol, Deventer, Netherlands Univ Groningen, Univ Med Ctr Groningen, Dept Genet, Groningen, NetherlandsHennekam, Eric A.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Genet, Utrecht, Netherlands Univ Groningen, Univ Med Ctr Groningen, Dept Genet, Groningen, NetherlandsPinto, Yigal M.论文数: 0 引用数: 0 h-index: 0机构: Acad Med Ctr, Dept Cardiol, Amsterdam, Netherlands Univ Groningen, Univ Med Ctr Groningen, Dept Genet, Groningen, NetherlandsDeprez, Ronald H. Lekanne论文数: 0 引用数: 0 h-index: 0机构: Univ Amsterdam, Acad Med Ctr, Dept Clin Genet, Amsterdam, Netherlands Univ Groningen, Univ Med Ctr Groningen, Dept Genet, Groningen, NetherlandsBarge-Schaapveld, Daniela Q. C. M.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Dept Clin Genet, Med Ctr, Leiden, Netherlands Univ Groningen, Univ Med Ctr Groningen, Dept Genet, Groningen, NetherlandsBootsma, Marianne论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Dept Cardiol, Med Ctr, Leiden, Netherlands Univ Groningen, Univ Med Ctr Groningen, Dept Genet, Groningen, NetherlandsRegieli, Jakub论文数: 0 引用数: 0 h-index: 0机构: Isala Clin, Dept Cardiol, Zwolle, Netherlands Heart Clin, Amsterdam, Netherlands Univ Groningen, Univ Med Ctr Groningen, Dept Genet, Groningen, NetherlandsHoedemaekers, Yvonne M.论文数: 0 引用数: 0 h-index: 0机构: Univ Groningen, Univ Med Ctr Groningen, Dept Genet, Groningen, Netherlands Univ Groningen, Univ Med Ctr Groningen, Dept Genet, Groningen, NetherlandsJongbloed, Jan D. H.论文数: 0 引用数: 0 h-index: 0机构: Univ Groningen, Univ Med Ctr Groningen, Dept Genet, Groningen, Netherlands Univ Groningen, Univ Med Ctr Groningen, Dept Genet, Groningen, Netherlandsvan den Berg, Maarten P.论文数: 0 引用数: 0 h-index: 0机构: Univ Groningen, Univ Med Ctr Groningen, Dept Cardiol, Groningen, Netherlands Univ Groningen, Univ Med Ctr Groningen, Dept Genet, Groningen, Netherlandsvan Tintelen, J. Peter论文数: 0 引用数: 0 h-index: 0机构: Netherlands Heart Inst, Utrecht, Netherlands Univ Amsterdam, Acad Med Ctr, Dept Clin Genet, Amsterdam, Netherlands Univ Groningen, Univ Med Ctr Groningen, Dept Genet, Groningen, Netherlands
- [7] A neurodevelopmental disorder associated with an activating de novo missense variant in ARF1HUMAN MOLECULAR GENETICS, 2023, 32 (07) : 1162 - 1174Ishida, Morie论文数: 0 引用数: 0 h-index: 0机构: Eunice Kennedy Shiver Natl Inst Child Hlth & Huma, Neurosci & Cellular & Struct Biol Div, NIH, Bethesda, MD 20892 USA Eunice Kennedy Shiver Natl Inst Child Hlth & Huma, Neurosci & Cellular & Struct Biol Div, NIH, Bethesda, MD 20892 USAOtero, Maria Gabriela论文数: 0 引用数: 0 h-index: 0机构: Cedars Sinai Med Ctr, Board Governors Regenerat Med Inst, Los Angeles, CA 90048 USA Eunice Kennedy Shiver Natl Inst Child Hlth & Huma, Neurosci & Cellular & Struct Biol Div, NIH, Bethesda, MD 20892 USAFreeman, Christina论文数: 0 引用数: 0 h-index: 0机构: Cedars Sinai Med Ctr, Board Governors Regenerat Med Inst, Los Angeles, CA 90048 USA Eunice Kennedy Shiver Natl Inst Child Hlth & Huma, Neurosci & Cellular & Struct Biol Div, NIH, Bethesda, MD 20892 USASanchez-Lara, Pedro A.论文数: 0 引用数: 0 h-index: 0机构: Cedars Sinai Med Ctr, Dept Pediat, Div Med Genet, Los Angeles, CA 90048 USA Eunice Kennedy Shiver Natl Inst Child Hlth & Huma, Neurosci & Cellular & Struct Biol Div, NIH, Bethesda, MD 20892 USAGuardia, Carlos M.论文数: 0 引用数: 0 h-index: 0机构: Eunice Kennedy Shiver Natl Inst Child Hlth & Huma, Neurosci & Cellular & Struct Biol Div, NIH, Bethesda, MD 20892 USA NIEHS, Reprod & Dev Biol Lab, NIH, Res Triangle Pk, NC 27703 USA Eunice Kennedy Shiver Natl Inst Child Hlth & Huma, Neurosci & Cellular & Struct Biol Div, NIH, Bethesda, MD 20892 USAPierson, Tyler Mark论文数: 0 引用数: 0 h-index: 0机构: Cedars Sinai Med Ctr, Board Governors Regenerat Med Inst, Los Angeles, CA 90048 USA Cedars Sinai Med Ctr, Dept Pediat, Div Pediat Neurol, Los Angeles, CA 90048 USA Cedars Sinai Med Ctr, Dept Neurol, Los Angeles, CA 90048 USA Cedars Sinai Med Ctr, Ctr Undiagnosed Patient, Los Angeles, CA 90048 USA Eunice Kennedy Shiver Natl Inst Child Hlth & Huma, Neurosci & Cellular & Struct Biol Div, NIH, Bethesda, MD 20892 USABonifacino, Juan S.论文数: 0 引用数: 0 h-index: 0机构: Eunice Kennedy Shiver Natl Inst Child Hlth & Huma, Neurosci & Cellular & Struct Biol Div, NIH, Bethesda, MD 20892 USA Eunice Kennedy Shiver Natl Inst Child Hlth & Huma, Neurosci & Cellular & Struct Biol Div, NIH, Bethesda, MD 20892 USA
- [8] Structural analysis of pathogenic missense mutations in GABRA2 and identification of a novel de novo variant in the desensitization gateMOLECULAR GENETICS & GENOMIC MEDICINE, 2020, 8 (07):Sanchis-Juan, Alba论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Dept Haematol, NHS Blood & Transplant Ctr, Cambridge, England Cambridge Univ Hosp NHS Fdn Trust, NIHR BioResource, Cambridge Biomed Campus, Cambridge CB2 0QQ, England Univ Cambridge, Dept Haematol, NHS Blood & Transplant Ctr, Cambridge, EnglandHasenahuer, Marcia A.论文数: 0 引用数: 0 h-index: 0机构: European Bioinformat Inst, European Mol Biol Lab, Wellcome Genome Campus, Cambridge, England Univ Cambridge, Dept Med Genet, Cambridge Inst Med Res, Cambridge, England Univ Cambridge, Dept Haematol, NHS Blood & Transplant Ctr, Cambridge, EnglandBaker, James A.论文数: 0 引用数: 0 h-index: 0机构: European Bioinformat Inst, European Mol Biol Lab, Wellcome Genome Campus, Cambridge, England Univ Cambridge, Dept Haematol, NHS Blood & Transplant Ctr, Cambridge, EnglandMcTague, Amy论文数: 0 引用数: 0 h-index: 0机构: UCL, Dev Neurosci, Great Ormond St Inst Child Hlth, London, England Univ Cambridge, Dept Haematol, NHS Blood & Transplant Ctr, Cambridge, EnglandBarwick, Katy论文数: 0 引用数: 0 h-index: 0机构: UCL, Dev Neurosci, Great Ormond St Inst Child Hlth, London, England Univ Cambridge, Dept Haematol, NHS Blood & Transplant Ctr, Cambridge, EnglandKurian, Manju A.论文数: 0 引用数: 0 h-index: 0机构: UCL, Dev Neurosci, Great Ormond St Inst Child Hlth, London, England Univ Cambridge, Dept Haematol, NHS Blood & Transplant Ctr, Cambridge, EnglandDuarte, Sofia T.论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Lisboa Cent, Hosp Dona Estefania, Lisbon, Portugal Univ Cambridge, Dept Haematol, NHS Blood & Transplant Ctr, Cambridge, EnglandCarss, Keren J.论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Dept Haematol, NHS Blood & Transplant Ctr, Cambridge, England Cambridge Univ Hosp NHS Fdn Trust, NIHR BioResource, Cambridge Biomed Campus, Cambridge CB2 0QQ, England Univ Cambridge, Dept Haematol, NHS Blood & Transplant Ctr, Cambridge, EnglandThornton, Janet论文数: 0 引用数: 0 h-index: 0机构: European Bioinformat Inst, European Mol Biol Lab, Wellcome Genome Campus, Cambridge, England Univ Cambridge, Dept Haematol, NHS Blood & Transplant Ctr, Cambridge, EnglandRaymond, F. Lucy论文数: 0 引用数: 0 h-index: 0机构: Cambridge Univ Hosp NHS Fdn Trust, NIHR BioResource, Cambridge Biomed Campus, Cambridge CB2 0QQ, England Univ Cambridge, Dept Med Genet, Cambridge Inst Med Res, Cambridge, England Univ Cambridge, Dept Haematol, NHS Blood & Transplant Ctr, Cambridge, England
- [9] Identification of a novel missense mutation (c.608A > G) in the ABO gene contributing to an A variantTRANSFUSION, 2020, 60 (09) : E34 - E35Wu, Xinming论文数: 0 引用数: 0 h-index: 0机构: Second Peoples Hosp Lianyungang, Dept Blood Transfus, Lianyungang, Peoples R China Second Peoples Hosp Lianyungang, Dept Blood Transfus, Lianyungang, Peoples R ChinaJi, Fangyuan论文数: 0 引用数: 0 h-index: 0机构: Peoples Hosp Suqian, Dept Blood Transfus, Suqian, Peoples R China Second Peoples Hosp Lianyungang, Dept Blood Transfus, Lianyungang, Peoples R ChinaHuo, Ni论文数: 0 引用数: 0 h-index: 0机构: Second Peoples Hosp Lianyungang, Dept Blood Transfus, Lianyungang, Peoples R China Second Peoples Hosp Lianyungang, Dept Blood Transfus, Lianyungang, Peoples R ChinaWu, Yunping论文数: 0 引用数: 0 h-index: 0机构: Second Peoples Hosp Lianyungang, Dept Blood Transfus, Lianyungang, Peoples R China Second Peoples Hosp Lianyungang, Dept Blood Transfus, Lianyungang, Peoples R ChinaLiu, Xinlu论文数: 0 引用数: 0 h-index: 0机构: Second Peoples Hosp Lianyungang, Dept Blood Transfus, Lianyungang, Peoples R China Second Peoples Hosp Lianyungang, Dept Blood Transfus, Lianyungang, Peoples R ChinaZhang, Linhai论文数: 0 引用数: 0 h-index: 0机构: Second Peoples Hosp Lianyungang, Dept Blood Transfus, Lianyungang, Peoples R China Second Peoples Hosp Lianyungang, Dept Blood Transfus, Lianyungang, Peoples R ChinaLiang, Wei论文数: 0 引用数: 0 h-index: 0机构: Second Peoples Hosp Lianyungang, Dept Blood Transfus, Lianyungang, Peoples R China Second Peoples Hosp Lianyungang, Dept Blood Transfus, Lianyungang, Peoples R ChinaWang, Zhicheng论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Huashan Hosp, Dept Lab Med, 161 Xingfu Rd, Shanghai, Peoples R China Second Peoples Hosp Lianyungang, Dept Blood Transfus, Lianyungang, Peoples R China
- [10] Integrative identification of the pathogenic role of a novel G6PD missense mutation c.697G>CANNALS OF TRANSLATIONAL MEDICINE, 2021, 9 (03)Zhang, Hongyang论文数: 0 引用数: 0 h-index: 0机构: Chongqing Med Univ, Ctr Clin Mol Med, Minist Educ, Key Lab Child Dev & Disorders, Chongqing, Peoples R China Chongqing Med Univ, Childrens Hosp, China Int Sci & Technol Cooperat Base Child Dev &, Natl Clin Res Ctr Child Hlth & Disorders Chongqin, Chongqing, Peoples R China Chongqing Engn Res Ctr Stem Cell Therapy, Chongqing, Peoples R China Chongqing Med Univ, Ctr Clin Mol Med, Minist Educ, Key Lab Child Dev & Disorders, Chongqing, Peoples R ChinaPeng, Danyi论文数: 0 引用数: 0 h-index: 0机构: Chongqing Med Univ, Ctr Clin Mol Med, Minist Educ, Key Lab Child Dev & Disorders, Chongqing, Peoples R China Chongqing Med Univ, Childrens Hosp, China Int Sci & Technol Cooperat Base Child Dev &, Natl Clin Res Ctr Child Hlth & Disorders Chongqin, Chongqing, Peoples R China Chongqing Engn Res Ctr Stem Cell Therapy, Chongqing, Peoples R China Chongqing Med Univ, Dept Resp Med, Childrens Hosp, Chongqing, Peoples R China Chongqing Med Univ, Ctr Clin Mol Med, Minist Educ, Key Lab Child Dev & Disorders, Chongqing, Peoples R ChinaShu, Yi论文数: 0 引用数: 0 h-index: 0机构: Chongqing Med Univ, Ctr Clin Mol Med, Minist Educ, Key Lab Child Dev & Disorders, Chongqing, Peoples R China Chongqing Med Univ, Childrens Hosp, China Int Sci & Technol Cooperat Base Child Dev &, Natl Clin Res Ctr Child Hlth & Disorders Chongqin, Chongqing, Peoples R China Chongqing Engn Res Ctr Stem Cell Therapy, Chongqing, Peoples R China Chongqing Med Univ, Ctr Clin Mol Med, Minist Educ, Key Lab Child Dev & Disorders, Chongqing, Peoples R ChinaZhu, Dan论文数: 0 引用数: 0 h-index: 0机构: Chongqing Med Univ, Ctr Clin Mol Med, Minist Educ, Key Lab Child Dev & Disorders, Chongqing, Peoples R China Chongqing Med Univ, Childrens Hosp, China Int Sci & Technol Cooperat Base Child Dev &, Natl Clin Res Ctr Child Hlth & Disorders Chongqin, Chongqing, Peoples 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