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- [1] Identification of a novel LMF1 nonsense mutation responsible for severe hypertriglyceridemia by targeted next-generation sequencingJOURNAL OF CLINICAL LIPIDOLOGY, 2017, 11 (01) : 272 - 281Cefalu, Angelo B.论文数: 0 引用数: 0 h-index: 0机构: Univ Palermo, Dipartimento Biomed Med Interna & Specialist DIBI, Palermo, Italy AOUP Paolo Giaccone, Cent Lab Adv Diag & Biomed Res CLADIBIOR, Mol Biol Diagnost Lab, Palermo, Italy Univ Palermo, Dipartimento Biomed Med Interna & Specialist DIBI, Palermo, ItalySpina, Rossella论文数: 0 引用数: 0 h-index: 0机构: Univ Palermo, Dipartimento Biomed Med Interna & Specialist DIBI, Palermo, Italy AOUP Paolo Giaccone, Cent Lab Adv Diag & Biomed Res CLADIBIOR, Mol Biol Diagnost Lab, Palermo, Italy Univ Palermo, Dipartimento Biomed Med Interna & Specialist DIBI, Palermo, Italy论文数: 引用数: h-index:机构:Ingrassia, Valeria论文数: 0 引用数: 0 h-index: 0机构: Univ Palermo, Dipartimento Biomed Med Interna & Specialist DIBI, Palermo, Italy AOUP Paolo Giaccone, Cent Lab Adv Diag & Biomed Res CLADIBIOR, Mol Biol Diagnost Lab, Palermo, Italy Univ Palermo, Dipartimento Biomed Med Interna & Specialist DIBI, Palermo, ItalyValenti, Vincenza论文数: 0 引用数: 0 h-index: 0机构: AOUP Paolo Giaccone, Cent Lab Adv Diag & Biomed Res CLADIBIOR, Mol Biol Diagnost Lab, Palermo, Italy Univ Palermo, Dipartimento Biomed Med Interna & Specialist DIBI, Palermo, ItalyGiammanco, Antonina论文数: 0 引用数: 0 h-index: 0机构: Univ Palermo, Dipartimento Biomed Med Interna & Specialist DIBI, Palermo, Italy Univ Palermo, Dipartimento Biomed Med Interna & Specialist DIBI, Palermo, ItalyFayer, Francesca论文数: 0 引用数: 0 h-index: 0机构: Univ Palermo, Dipartimento Biomed Med Interna & Specialist DIBI, Palermo, Italy Univ Palermo, Dipartimento Biomed Med Interna & Specialist DIBI, Palermo, ItalyMisiano, Gabriella论文数: 0 引用数: 0 h-index: 0机构: AOUP Paolo Giaccone, Cent Lab Adv Diag & Biomed Res CLADIBIOR, Mol Biol Diagnost Lab, Palermo, Italy Univ Palermo, Dipartimento Biomed Med Interna & Specialist DIBI, Palermo, ItalyCocorullo, Gianfranco论文数: 0 引用数: 0 h-index: 0机构: Univ Palermo, Dept Surg Oncol & Stomatol Sci, Unit Emergency & Gen Surg, Palermo, Italy Univ Palermo, Dipartimento Biomed Med Interna & Specialist DIBI, Palermo, ItalyScrimali, Chiara论文数: 0 引用数: 0 h-index: 0机构: AOUP Paolo Giaccone, Cent Lab Adv Diag & Biomed Res CLADIBIOR, Mol Biol Diagnost Lab, Palermo, Italy Univ Palermo, Dipartimento Biomed Med Interna & Specialist DIBI, Palermo, ItalyPalesano, Ornella论文数: 0 引用数: 0 h-index: 0机构: Univ Palermo, Dipartimento Biomed Med Interna & Specialist DIBI, Palermo, Italy Univ Palermo, Dipartimento Biomed Med Interna & Specialist DIBI, Palermo, ItalyAltieri, Grazia I.论文数: 0 引用数: 0 h-index: 0机构: Univ Palermo, Dipartimento Biomed Med Interna & Specialist DIBI, Palermo, Italy Univ Palermo, Dipartimento Biomed Med Interna & Specialist DIBI, Palermo, ItalyGanci, Antonina论文数: 0 引用数: 0 h-index: 0机构: Univ Palermo, Dipartimento Biomed Med Interna & Specialist DIBI, Palermo, Italy Univ Palermo, Dipartimento Biomed Med Interna & Specialist DIBI, Palermo, ItalyBarbagallo, Carlo M.论文数: 0 引用数: 0 h-index: 0机构: Univ Palermo, Dipartimento Biomed Med Interna & Specialist DIBI, Palermo, Italy Univ Palermo, Dipartimento Biomed Med Interna & Specialist DIBI, Palermo, ItalyAverna, Maurizio R.论文数: 0 引用数: 0 h-index: 0机构: Univ Palermo, Dipartimento Biomed Med Interna & Specialist DIBI, Palermo, Italy AOUP Paolo Giaccone, Cent Lab Adv Diag & Biomed Res CLADIBIOR, Mol Biol Diagnost Lab, Palermo, Italy Univ Palermo, Dipartimento Biomed Med Interna & Specialist DIBI, Palermo, Italy
- [2] Novel LMF1 Nonsense Mutation in a Patient with Severe HypertriglyceridemiaJOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2009, 94 (11): : 4584 - 4590Cefalu, Angelo B.论文数: 0 引用数: 0 h-index: 0机构: Univ Palermo, Policlin Paolo Giaccone, Dept Clin Med & Emerging Dis, I-90127 Palermo, ItalyNoto, Davide论文数: 0 引用数: 0 h-index: 0机构: Univ Palermo, Policlin Paolo Giaccone, Dept Clin Med & Emerging Dis, I-90127 Palermo, ItalyArpi, Maria Luisa论文数: 0 引用数: 0 h-index: 0机构: Univ Catania, Dept Internal Med, Endocrinol Unit, I-95125 Catania, Italy Univ Palermo, Policlin Paolo Giaccone, Dept Clin Med & Emerging Dis, I-90127 Palermo, ItalyYin, Fen论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, Dept Med, Los Angeles, CA 90095 USA Vet Affairs Greater Los Angeles Healthcare Syst, Lipid Res Lab, Los Angeles, CA 90073 USA Cedars Sinai Med Ctr, Inst Med Genet, Los Angeles, CA 90048 USA Univ Palermo, Policlin Paolo Giaccone, Dept Clin Med & Emerging Dis, I-90127 Palermo, ItalySpina, Rossella论文数: 0 引用数: 0 h-index: 0机构: Univ Palermo, Policlin Paolo Giaccone, Dept Clin Med & Emerging Dis, I-90127 Palermo, ItalyHilden, Hannele论文数: 0 引用数: 0 h-index: 0机构: Helsinki Univ Hosp, Dept Med, FI-00029 Helsinki, Finland Univ Palermo, Policlin Paolo Giaccone, Dept Clin Med & Emerging Dis, I-90127 Palermo, ItalyBarbagallo, Carlo M.论文数: 0 引用数: 0 h-index: 0机构: Univ Palermo, Policlin Paolo Giaccone, Dept Clin Med & Emerging Dis, I-90127 Palermo, ItalyCarroccio, Antonio论文数: 0 引用数: 0 h-index: 0机构: Univ Palermo, Policlin Paolo Giaccone, Dept Clin Med & Emerging Dis, I-90127 Palermo, ItalyTarugi, Patrizia论文数: 0 引用数: 0 h-index: 0机构: Univ Modena & Reggio Emilia, Dept Biomed Sci, I-41100 Modena, Italy Univ Palermo, Policlin Paolo Giaccone, Dept Clin Med & Emerging Dis, I-90127 Palermo, ItalySquatrito, Sebastiano论文数: 0 引用数: 0 h-index: 0机构: Univ Catania, Dept Internal Med, Endocrinol Unit, I-95125 Catania, Italy Univ Palermo, Policlin Paolo Giaccone, Dept Clin Med & Emerging Dis, I-90127 Palermo, ItalyVigneri, Riccardo论文数: 0 引用数: 0 h-index: 0机构: Univ Catania, Dept Internal Med, Endocrinol Unit, I-95125 Catania, Italy Univ Palermo, Policlin Paolo Giaccone, Dept Clin Med & Emerging Dis, I-90127 Palermo, ItalyTaskinen, Marja-Riitta论文数: 0 引用数: 0 h-index: 0机构: Helsinki Univ Hosp, Dept Med, FI-00029 Helsinki, Finland Univ Palermo, Policlin Paolo Giaccone, Dept Clin Med & Emerging Dis, I-90127 Palermo, ItalyPeterfy, Miklos论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, Dept Med, Los Angeles, CA 90095 USA Vet Affairs Greater Los Angeles Healthcare Syst, Lipid Res Lab, Los Angeles, CA 90073 USA Cedars Sinai Med Ctr, Inst Med Genet, Los Angeles, CA 90048 USA Univ Palermo, Policlin Paolo Giaccone, Dept Clin Med & Emerging Dis, I-90127 Palermo, ItalyAverna, Maurizio R.论文数: 0 引用数: 0 h-index: 0机构: Univ Palermo, Policlin Paolo Giaccone, Dept Clin Med & Emerging Dis, I-90127 Palermo, Italy Univ Palermo, Policlin Paolo Giaccone, Dept Clin Med & Emerging Dis, I-90127 Palermo, Italy
- [3] Identification of a novel and heterozygous LMF1 nonsense mutation in an acute pancreatitis patient with severe hypertriglyceridemia, severe obesity and heavy smokingLipids in Health and Disease, 18Wei-Wei Chen论文数: 0 引用数: 0 h-index: 0机构: Medical School of Nanjing University,Surgical Intensive Care Unit (SICU), Department of General Surgery, Jinling HospitalQi Yang论文数: 0 引用数: 0 h-index: 0机构: Medical School of Nanjing University,Surgical Intensive Care Unit (SICU), Department of General Surgery, Jinling HospitalXiao-Yao Li论文数: 0 引用数: 0 h-index: 0机构: Medical School of Nanjing University,Surgical Intensive Care Unit (SICU), Department of General Surgery, Jinling HospitalXiao-Lei Shi论文数: 0 引用数: 0 h-index: 0机构: Medical School of Nanjing University,Surgical Intensive Care Unit (SICU), Department of General Surgery, Jinling HospitalNa Pu论文数: 0 引用数: 0 h-index: 0机构: Medical School of Nanjing University,Surgical Intensive Care Unit (SICU), Department of General Surgery, Jinling HospitalGuo-Tao Lu论文数: 0 引用数: 0 h-index: 0机构: Medical School of Nanjing University,Surgical Intensive Care Unit (SICU), Department of General Surgery, Jinling HospitalZhi-Hui Tong论文数: 0 引用数: 0 h-index: 0机构: Medical School of Nanjing University,Surgical Intensive Care Unit (SICU), Department of General Surgery, Jinling HospitalJian-Min Chen论文数: 0 引用数: 0 h-index: 0机构: Medical School of Nanjing University,Surgical Intensive Care Unit (SICU), Department of General Surgery, Jinling HospitalWei-Qin Li论文数: 0 引用数: 0 h-index: 0机构: Medical School of Nanjing University,Surgical Intensive Care Unit (SICU), Department of General Surgery, Jinling Hospital
- [4] Identification of a novel and heterozygous LMF1 nonsense mutation in an acute pancreatitis patient with severe hypertriglyceridemia, severe obesity and heavy smokingLIPIDS IN HEALTH AND DISEASE, 2019, 18 (1)Chen, Wei-Wei论文数: 0 引用数: 0 h-index: 0机构: Nanjing Univ, Sch Med, Jinling Hosp, SICU,Dept Gen Surg, Nanjing 210000, Jiangsu, Peoples R China Yangzhou Univ, Dept Gastroenterol, Clin Med Coll, Yangzhou 225000, Jiangsu, Peoples R China Nanjing Univ, Sch Med, Jinling Hosp, SICU,Dept Gen Surg, Nanjing 210000, Jiangsu, Peoples R ChinaYang, Qi论文数: 0 引用数: 0 h-index: 0机构: Nanjing Univ, Sch Med, Jinling Hosp, SICU,Dept Gen Surg, Nanjing 210000, Jiangsu, Peoples R China Nanjing Univ, Sch Med, Jinling Hosp, SICU,Dept Gen Surg, Nanjing 210000, Jiangsu, Peoples R ChinaLi, Xiao-Yao论文数: 0 引用数: 0 h-index: 0机构: Nanjing Univ, Sch Med, Jinling Hosp, SICU,Dept Gen Surg, Nanjing 210000, Jiangsu, Peoples R China Nanjing Univ, Sch Med, Jinling Hosp, SICU,Dept Gen Surg, Nanjing 210000, Jiangsu, Peoples R ChinaShi, Xiao-Lei论文数: 0 引用数: 0 h-index: 0机构: Nanjing Univ, Sch Med, Jinling Hosp, SICU,Dept Gen Surg, Nanjing 210000, Jiangsu, Peoples R China Nanjing Univ, Sch Med, Jinling Hosp, SICU,Dept Gen Surg, Nanjing 210000, Jiangsu, Peoples R ChinaPu, Na论文数: 0 引用数: 0 h-index: 0机构: Nanjing Univ, Sch Med, Jinling Hosp, SICU,Dept Gen Surg, Nanjing 210000, Jiangsu, Peoples R China Nanjing Univ, Sch Med, Jinling Hosp, SICU,Dept Gen Surg, Nanjing 210000, Jiangsu, Peoples R ChinaLu, Guo-Tao论文数: 0 引用数: 0 h-index: 0机构: Nanjing Univ, Sch Med, Jinling Hosp, SICU,Dept Gen Surg, Nanjing 210000, Jiangsu, Peoples R China Nanjing Univ, Sch Med, Jinling Hosp, SICU,Dept Gen Surg, Nanjing 210000, Jiangsu, Peoples R ChinaTong, Zhi-Hui论文数: 0 引用数: 0 h-index: 0机构: Nanjing Univ, Sch Med, Jinling Hosp, SICU,Dept Gen Surg, Nanjing 210000, Jiangsu, Peoples R China Nanjing Univ, Sch Med, Jinling Hosp, SICU,Dept Gen Surg, Nanjing 210000, Jiangsu, Peoples R ChinaChen, Jian-Min论文数: 0 引用数: 0 h-index: 0机构: Univ Brest, EFS, INSERM, UMR 1078,GGB, F-29200 Brest, France Nanjing Univ, Sch Med, Jinling Hosp, SICU,Dept Gen Surg, Nanjing 210000, Jiangsu, Peoples R ChinaLi, Wei-Qin论文数: 0 引用数: 0 h-index: 0机构: Nanjing Univ, Sch Med, Jinling Hosp, SICU,Dept Gen Surg, Nanjing 210000, Jiangsu, Peoples R China Nanjing Univ, Sch Med, Jinling Hosp, SICU,Dept Gen Surg, Nanjing 210000, Jiangsu, Peoples R China
- [5] Novel LMF1 Nonsense Mutation in a Patient with Severe Hypertriglyceridemia (vol 94, pg 4584, 2009)JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2010, 95 (01): : 465 - 465Cefalu, Angelo B.论文数: 0 引用数: 0 h-index: 0Noto, Davide论文数: 0 引用数: 0 h-index: 0Arpi, Maria Luisa论文数: 0 引用数: 0 h-index: 0Yin, Fen论文数: 0 引用数: 0 h-index: 0Spina, Rossella论文数: 0 引用数: 0 h-index: 0Hilden, Hannele论文数: 0 引用数: 0 h-index: 0Barbagallo, Carlo M.论文数: 0 引用数: 0 h-index: 0Carroccio, Antonio论文数: 0 引用数: 0 h-index: 0Tarugi, Patrizia论文数: 0 引用数: 0 h-index: 0Squatrito, Sebastiano论文数: 0 引用数: 0 h-index: 0Vigneri, Riccardo论文数: 0 引用数: 0 h-index: 0Taskinen, Marja-Riitta论文数: 0 引用数: 0 h-index: 0Peterfy, Miklos论文数: 0 引用数: 0 h-index: 0Averna, Maurizio R.论文数: 0 引用数: 0 h-index: 0
- [6] Identification and functional analysis of novel homozygous LMF1 variants in severe hypertriglyceridemiaJOURNAL OF CLINICAL LIPIDOLOGY, 2025, 19 (01) : 95 - 104Bedoya, Candy论文数: 0 引用数: 0 h-index: 0机构: Western Univ Hlth Sci, Dept Biomed Sci, 309 E Second St, Pomona, CA 91766 USA Western Univ Hlth Sci, Dept Biomed Sci, 309 E Second St, Pomona, CA 91766 USAThomas, Rishi论文数: 0 引用数: 0 h-index: 0机构: Western Univ Hlth Sci, Dept Biomed Sci, 309 E Second St, Pomona, CA 91766 USA Western Univ Hlth Sci, Dept Biomed Sci, 309 E Second St, Pomona, CA 91766 USABjarvin, Anna论文数: 0 引用数: 0 h-index: 0机构: Western Univ Hlth Sci, Dept Biomed Sci, 309 E Second St, Pomona, CA 91766 USA Western Univ Hlth Sci, Dept Biomed Sci, 309 E Second St, Pomona, CA 91766 USAJi, Wilbur论文数: 0 引用数: 0 h-index: 0机构: Western Univ Hlth Sci, Dept Biomed Sci, 309 E Second St, Pomona, CA 91766 USA Western Univ Hlth Sci, Dept Biomed Sci, 309 E Second St, Pomona, CA 91766 USASamara, Hanien论文数: 0 引用数: 0 h-index: 0机构: Western Univ Hlth Sci, Dept Biomed Sci, 309 E Second St, Pomona, CA 91766 USA Western Univ Hlth Sci, Dept Biomed Sci, 309 E Second St, Pomona, CA 91766 USATai, Jody论文数: 0 引用数: 0 h-index: 0机构: Western Univ Hlth Sci, Dept Biomed Sci, 309 E Second St, Pomona, CA 91766 USA Western Univ Hlth Sci, Dept Biomed Sci, 309 E Second St, Pomona, CA 91766 USAGreen, Laurie论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Cardiovasc Res Inst, San Francisco, CA USA Western Univ Hlth Sci, Dept Biomed Sci, 309 E Second St, Pomona, CA 91766 USAFrost, Philip H.论文数: 0 引用数: 0 h-index: 0机构: Western Univ Hlth Sci, Dept Biomed Sci, 309 E Second St, Pomona, CA 91766 USAMalloy, Mary J.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Cardiovasc Res Inst, San Francisco, CA USA Western Univ Hlth Sci, Dept Biomed Sci, 309 E Second St, Pomona, CA 91766 USAPullinger, Clive R.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Cardiovasc Res Inst, San Francisco, CA USA Western Univ Hlth Sci, Dept Biomed Sci, 309 E Second St, Pomona, CA 91766 USAKane, John P.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Cardiovasc Res Inst, San Francisco, CA USA Western Univ Hlth Sci, Dept Biomed Sci, 309 E Second St, Pomona, CA 91766 USAPeterfy, Miklos论文数: 0 引用数: 0 h-index: 0机构: Western Univ Hlth Sci, Dept Biomed Sci, 309 E Second St, Pomona, CA 91766 USA Western Univ Hlth Sci, Dept Biomed Sci, 309 E Second St, Pomona, CA 91766 USA
- [7] NOVEL MISSENSE VARIANTS IN THE LMF1 GENE: IDENTIFICATION BY NEXT GENERATION SEQUENCING AND FUNCTIONAL CHARACTERIZATIONATHEROSCLEROSIS, 2023, 379 : S143 - S143Fasciana, T. M. G.论文数: 0 引用数: 0 h-index: 0机构: Univ Palermo, Promise, Palermo, Italy Univ Palermo, Promise, Palermo, Italy论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Lanza, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Palermo, Promise, Palermo, Italy Univ Palermo, Promise, Palermo, ItalyPisciotta, L.论文数: 0 引用数: 0 h-index: 0机构: Univ Genoa, Dept Internal Med, Genoa, Italy Univ Palermo, Promise, Palermo, ItalyGianola, D.论文数: 0 引用数: 0 h-index: 0机构: Papa Giovanni Xxiii Hosp ASST, Bergamo, Italy Univ Palermo, Promise, Palermo, ItalyFresa, R.论文数: 0 引用数: 0 h-index: 0机构: Univ Genoa, Dept Internal Med, Genoa, Italy Univ Palermo, Promise, Palermo, ItalySpina, R.论文数: 0 引用数: 0 h-index: 0机构: Univ Palermo, Promise, Palermo, Italy Univ Palermo, Promise, Palermo, ItalyNoto, D.论文数: 0 引用数: 0 h-index: 0机构: Univ Palermo, Promise, Palermo, Italy Univ Palermo, Promise, Palermo, ItalyPavanello, C.论文数: 0 引用数: 0 h-index: 0机构: Univ Milan, Sci Farmacol & Biomolecolari, Milan, Italy Univ Palermo, Promise, Palermo, Italy论文数: 引用数: h-index:机构:Barbagallo, C. M.论文数: 0 引用数: 0 h-index: 0机构: Univ Palermo, Promise, Palermo, Italy Univ Palermo, Promise, Palermo, ItalyGanci, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Palermo, Promise, Palermo, Italy Univ Palermo, Promise, Palermo, ItalyZambon, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Padua, Dept Med, Padua, Italy Univ Palermo, Promise, Palermo, ItalyBertolini, S.论文数: 0 引用数: 0 h-index: 0机构: Univ Genoa, Dept Internal Med, Genoa, Italy Univ Palermo, Promise, Palermo, ItalyCefalu, A. B.论文数: 0 引用数: 0 h-index: 0机构: Univ Palermo, Promise, Palermo, Italy Univ Palermo, Promise, Palermo, Italy论文数: 引用数: h-index:机构:
- [8] Identification of a Novel Nonsense ASPM Mutation in a Large Consanguineous Pakistani Family Using Targeted Next-Generation SequencingGENETIC TESTING AND MOLECULAR BIOMARKERS, 2018, 22 (03) : 159 - 164Khan, Amjad论文数: 0 引用数: 0 h-index: 0机构: China Med Univ, Res Ctr Med Genom, Shenyang, Liaoning, Peoples R China Chinese Acad Med Sci, State Key Lab Med Mol Biol, McKusick Zhang Ctr Genet Med, Inst Basic Med Sci,Sch Basic Med,Peking Union Med, Beijing 100005, Peoples R China Quaid I Azam Univ, Fac Biol Sci, Dept Biochem, Islamabad, Pakistan China Med Univ, Res Ctr Med Genom, Shenyang, Liaoning, Peoples R ChinaWang, Rongrong论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, State Key Lab Med Mol Biol, McKusick Zhang Ctr Genet Med, Inst Basic Med Sci,Sch Basic Med,Peking Union Med, Beijing 100005, Peoples R China China Med Univ, Res Ctr Med Genom, Shenyang, Liaoning, Peoples R ChinaHan, Shirui论文数: 0 引用数: 0 h-index: 0机构: China Med Univ, Res Ctr Med Genom, Shenyang, Liaoning, Peoples R China Chinese Acad Med Sci, State Key Lab Med Mol Biol, McKusick Zhang Ctr Genet Med, Inst Basic Med Sci,Sch Basic Med,Peking Union Med, Beijing 100005, Peoples R China China Med Univ, Res Ctr Med Genom, Shenyang, Liaoning, Peoples R China论文数: 引用数: h-index:机构:Zhang, Xue论文数: 0 引用数: 0 h-index: 0机构: China Med Univ, Res Ctr Med Genom, Shenyang, Liaoning, Peoples R China Chinese Acad Med Sci, State Key Lab Med Mol Biol, McKusick Zhang Ctr Genet Med, Inst Basic Med Sci,Sch Basic Med,Peking Union Med, Beijing 100005, Peoples R China China Med Univ, Res Ctr Med Genom, Shenyang, Liaoning, Peoples R China
- [9] A novel homozygous nonsense variant of LMF1 in pregnancy-induced hypertriglyceridemia with acute pancreatitisJOURNAL OF CLINICAL LIPIDOLOGY, 2023, 17 (03) : 327 - 331Tanaka, Masaki论文数: 0 引用数: 0 h-index: 0机构: Univ Tokyo, Grad Sch Med, Dept Diabet & Metab Dis, Tokyo, JapanTakase, Satoru论文数: 0 引用数: 0 h-index: 0机构: Univ Tokyo, Grad Sch Med, Dept Diabet & Metab Dis, Tokyo, JapanIshiura, Hiroyuki论文数: 0 引用数: 0 h-index: 0机构: Univ Tokyo, Grad Sch Med, Dept Diabet & Metab Dis, Tokyo, JapanYamauchi, Toshimasa论文数: 0 引用数: 0 h-index: 0机构: Univ Tokyo, Grad Sch Med, Dept Diabet & Metab Dis, Tokyo, JapanOkazaki, Sachiko论文数: 0 引用数: 0 h-index: 0机构: Univ Tokyo, Grad Sch Med, Dept Diabet & Metab Dis, Tokyo, JapanOkazaki, Hiroaki论文数: 0 引用数: 0 h-index: 0机构: Univ Tokyo, Grad Sch Med, Dept Diabet & Metab Dis, Tokyo, Japan
- [10] Targeted next-generation sequencing identifies a novel nonsense mutation in ANK1 for hereditary spherocytosis: A case reportWORLD JOURNAL OF CLINICAL CASES, 2022, 10 (15) : 4923 - 4928Fu, Pan论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Shanghai Childrens Hosp, Dept Hematol & Oncol, Shanghai 200062, Peoples R China Shanghai Jiao Tong Univ, Shanghai Childrens Hosp, Dept Hematol & Oncol, Shanghai 200062, Peoples R ChinaJiao, Yang-Yang论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Shanghai Childrens Hosp, Dept Hematol & Oncol, Shanghai 200062, Peoples R China Shanghai Jiao Tong Univ, Shanghai Childrens Hosp, Dept Hematol & Oncol, Shanghai 200062, Peoples R ChinaChen, Kai论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Shanghai Childrens Hosp, Dept Hematol & Oncol, Shanghai 200040, Peoples R China Shanghai Jiao Tong Univ, Shanghai Childrens Hosp, Dept Hematol & Oncol, Shanghai 200062, Peoples R ChinaShao, Jing-Bo论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Shanghai Childrens Hosp, Dept Hematol & Oncol, Shanghai 200040, Peoples R China Shanghai Jiao Tong Univ, Shanghai Childrens Hosp, Dept Hematol & Oncol, Shanghai 200062, Peoples R ChinaLiao, Xue-Lian论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Shanghai Childrens Hosp, Dept Hematol & Oncol, Shanghai 200062, Peoples R China Shanghai Jiao Tong Univ, Shanghai Childrens Hosp, Dept Hematol & Oncol, Shanghai 200062, Peoples R ChinaYang, Jing-Wei论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Shanghai Childrens Hosp, Dept Hematol & Oncol, Shanghai 200062, Peoples R China Shanghai Jiao Tong Univ, Shanghai Childrens Hosp, Dept Hematol & Oncol, Shanghai 200062, Peoples R ChinaJiang, Sha-Yi论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Shanghai Childrens Hosp, Dept Hematol & Oncol, Shanghai 200062, Peoples R China Shanghai Jiao Tong Univ, Shanghai Childrens Hosp, Dept Hematol & Oncol, 355 Luding Rd, Shanghai 200062, Peoples R China Shanghai Jiao Tong Univ, Shanghai Childrens Hosp, Dept Hematol & Oncol, Shanghai 200062, Peoples R China