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- [31] Next Generation Sequencing Identifies a New Astrovirus Variant in a 14-Year Old Boy with X-Linked Agammaglobulinemia and EncephalitisJOURNAL OF CLINICAL IMMUNOLOGY, 2014, 34 : S399 - S399Fremond, M. L.论文数: 0 引用数: 0 h-index: 0机构: Hop Necker Enfants Malad, Unite Immunol Hematol & Rhumatol Pediat, Paris, France Hop Necker Enfants Malad, Unite Immunol Hematol & Rhumatol Pediat, Paris, FranceCros, G.论文数: 0 引用数: 0 h-index: 0机构: Hop Necker Enfants Malad, Unite Immunol Hematol & Rhumatol Pediat, Paris, France Hop Necker Enfants Malad, Unite Immunol Hematol & Rhumatol Pediat, Paris, FranceEloit, M.论文数: 0 引用数: 0 h-index: 0机构: Inst Pasteur, Lab Decouverte Pathogenes, Paris, France Hop Necker Enfants Malad, Unite Immunol Hematol & Rhumatol Pediat, Paris, FranceLecuit, M.论文数: 0 引用数: 0 h-index: 0机构: Hop Necker Enfants Malad, Serv Malad Infect & Trop, Paris, France Hop Necker Enfants Malad, Unite Immunol Hematol & Rhumatol Pediat, Paris, FranceMahlaoui, N.论文数: 0 引用数: 0 h-index: 0机构: Hop Necker Enfants Malad, Unite Immunol Hematol & Rhumatol Pediat, Paris, France Hop Necker Enfants Malad, Unite Immunol Hematol & Rhumatol Pediat, Paris, FranceSeilhean, D.论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, Serv Neuropathol, Paris, France Hop Necker Enfants Malad, Unite Immunol Hematol & Rhumatol Pediat, Paris, FranceDesguerre, I.论文数: 0 引用数: 0 h-index: 0机构: Hop Necker Enfants Malad, Unite Neuropediat, Paris, France Hop Necker Enfants Malad, Unite Immunol Hematol & Rhumatol Pediat, Paris, FrancePicard, C.论文数: 0 引用数: 0 h-index: 0机构: Hop Necker Enfants Malad, Ctr Etud Deficits Immunitaires, Paris, France Hop Necker Enfants Malad, Unite Immunol Hematol & Rhumatol Pediat, Paris, FranceNeven, B.论文数: 0 引用数: 0 h-index: 0机构: Hop Necker Enfants Malad, Unite Immunol Hematol & Rhumatol Pediat, Paris, France Hop Necker Enfants Malad, Unite Immunol Hematol & Rhumatol Pediat, Paris, FranceBlanche, S.论文数: 0 引用数: 0 h-index: 0机构: Hop Necker Enfants Malad, Unite Immunol Hematol & Rhumatol Pediat, Paris, France Hop Necker Enfants Malad, Unite Immunol Hematol & Rhumatol Pediat, Paris, France
- [32] A new X-linked SCID genetic point mutation in a 9 month-old male with recurrent infections.ANNALS OF ALLERGY ASTHMA & IMMUNOLOGY, 2007, 98 (01) : A104 - A104Mehaffey, G. R.论文数: 0 引用数: 0 h-index: 0Johnston, D.论文数: 0 引用数: 0 h-index: 0Atkinson, P.论文数: 0 引用数: 0 h-index: 0
- [33] Highly efficient gene editing and single cell analysis of hematopoietic stem/progenitor cells from X-linked sideroblastic anemia patientsSIGNAL TRANSDUCTION AND TARGETED THERAPY, 2021, 6 (01)Fang, Riguo论文数: 0 引用数: 0 h-index: 0机构: EdiGene Inc, Beijing, Peoples R China EdiGene Guangzhou Inc, Guangzhou, Peoples R China EdiGene Inc, Beijing, Peoples R ChinaZhang, Jingliao论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci & Peking Union Med Coll, State Key Lab Expt Hematol, Natl Clin Res Ctr Blood Dis, Inst Hematol & Blood Dis Hosp, Tianjin, Peoples R China EdiGene Inc, Beijing, Peoples R ChinaYang, Huihui论文数: 0 引用数: 0 h-index: 0机构: EdiGene Inc, Beijing, Peoples R China EdiGene Guangzhou Inc, Guangzhou, Peoples R China EdiGene Inc, Beijing, Peoples R ChinaShi, Jia论文数: 0 引用数: 0 h-index: 0机构: EdiGene Inc, Beijing, Peoples R China EdiGene Guangzhou Inc, Guangzhou, Peoples R China EdiGene Inc, Beijing, Peoples R ChinaZeng, Huimin论文数: 0 引用数: 0 h-index: 0机构: Peking Univ Peoples Hosp, Dept Pediat, Beijing, Peoples R China EdiGene Inc, Beijing, Peoples R ChinaZhu, Xiaofan论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci & Peking Union Med Coll, State Key Lab Expt Hematol, Natl Clin Res Ctr Blood Dis, Inst Hematol & Blood Dis Hosp, Tianjin, Peoples R China EdiGene Inc, Beijing, Peoples R ChinaWei, Dong论文数: 0 引用数: 0 h-index: 0机构: EdiGene Inc, Beijing, Peoples R China EdiGene Guangzhou Inc, Guangzhou, Peoples R China EdiGene Inc, Beijing, Peoples R ChinaYuan, Pengfei论文数: 0 引用数: 0 h-index: 0机构: EdiGene Inc, Beijing, Peoples R China EdiGene Guangzhou Inc, Guangzhou, Peoples R China EdiGene Inc, Beijing, Peoples R ChinaCheng, Tao论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci & Peking Union Med Coll, State Key Lab Expt Hematol, Natl Clin Res Ctr Blood Dis, Inst Hematol & Blood Dis Hosp, Tianjin, Peoples R China EdiGene Inc, Beijing, Peoples R ChinaZhang, Yingchi论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci & Peking Union Med Coll, State Key Lab Expt Hematol, Natl Clin Res Ctr Blood Dis, Inst Hematol & Blood Dis Hosp, Tianjin, Peoples R China EdiGene Inc, Beijing, Peoples R China
- [34] Highly efficient gene editing and single cell analysis of hematopoietic stem/progenitor cells from X-linked sideroblastic anemia patientsSignal Transduction and Targeted Therapy, 6Riguo Fang论文数: 0 引用数: 0 h-index: 0机构: EdiGene Inc.,State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Institute of Hematology & Blood Diseases HospitalJingliao Zhang论文数: 0 引用数: 0 h-index: 0机构: EdiGene Inc.,State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Institute of Hematology & Blood Diseases HospitalHuihui Yang论文数: 0 引用数: 0 h-index: 0机构: EdiGene Inc.,State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Institute of Hematology & Blood Diseases HospitalJia Shi论文数: 0 引用数: 0 h-index: 0机构: EdiGene Inc.,State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Institute of Hematology & Blood Diseases HospitalHuimin Zeng论文数: 0 引用数: 0 h-index: 0机构: EdiGene Inc.,State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Institute of Hematology & Blood Diseases HospitalXiaofan Zhu论文数: 0 引用数: 0 h-index: 0机构: EdiGene Inc.,State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Institute of Hematology & Blood Diseases HospitalDong Wei论文数: 0 引用数: 0 h-index: 0机构: EdiGene Inc.,State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Institute of Hematology & Blood Diseases HospitalPengfei Yuan论文数: 0 引用数: 0 h-index: 0机构: EdiGene Inc.,State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Institute of Hematology & Blood Diseases HospitalTao Cheng论文数: 0 引用数: 0 h-index: 0机构: EdiGene Inc.,State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Institute of Hematology & Blood Diseases HospitalYingchi Zhang论文数: 0 引用数: 0 h-index: 0机构: EdiGene Inc.,State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Institute of Hematology & Blood Diseases Hospital
- [35] A hemizygous p.R204Q mutation in the ALAS2 gene underlies X-linked sideroblastic anemia in an adult Chinese Han manBMC MEDICAL GENOMICS, 2021, 14 (01)Huang, Jinbo论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci & Peking Union Med Coll, Inst Hematol & Blood Dis Hosp, Natl Clin Res Ctr Blood Dis, State Key Lab Expt Hematol, 288 Nanjing Rd, Tianjin 300020, Peoples R China Chinese Acad Med Sci & Peking Union Med Coll, Inst Hematol & Blood Dis Hosp, Natl Clin Res Ctr Blood Dis, State Key Lab Expt Hematol, 288 Nanjing Rd, Tianjin 300020, Peoples R ChinaGe, Meili论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci & Peking Union Med Coll, Inst Hematol & Blood Dis Hosp, Natl Clin Res Ctr Blood Dis, State Key Lab Expt Hematol, 288 Nanjing Rd, Tianjin 300020, Peoples R China Chinese Acad Med Sci & Peking Union Med Coll, Inst Hematol & Blood Dis Hosp, Natl Clin Res Ctr Blood Dis, State Key Lab Expt Hematol, 288 Nanjing Rd, Tianjin 300020, Peoples R ChinaShao, Yingqi论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci & Peking Union Med Coll, Inst Hematol & Blood Dis Hosp, Natl Clin Res Ctr Blood Dis, State Key Lab Expt Hematol, 288 Nanjing Rd, Tianjin 300020, Peoples R China Chinese Acad Med Sci & Peking Union Med Coll, Inst Hematol & Blood Dis Hosp, Natl Clin Res Ctr Blood Dis, State Key Lab Expt Hematol, 288 Nanjing Rd, Tianjin 300020, Peoples R ChinaWang, Min论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci & Peking Union Med Coll, Inst Hematol & Blood Dis Hosp, Natl Clin Res Ctr Blood Dis, State Key Lab Expt Hematol, 288 Nanjing Rd, Tianjin 300020, Peoples R China Chinese Acad Med Sci & Peking Union Med Coll, Inst Hematol & Blood Dis Hosp, Natl Clin Res Ctr Blood Dis, State Key Lab Expt Hematol, 288 Nanjing Rd, Tianjin 300020, Peoples R ChinaJin, Peng论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci & Peking Union Med Coll, Inst Hematol & Blood Dis Hosp, Natl Clin Res Ctr Blood Dis, State Key Lab Expt Hematol, 288 Nanjing Rd, Tianjin 300020, Peoples R China Chinese Acad Med Sci & Peking Union Med Coll, Inst Hematol & Blood Dis Hosp, Natl Clin Res Ctr Blood Dis, State Key Lab Expt Hematol, 288 Nanjing Rd, Tianjin 300020, Peoples R ChinaHuo, Jiali论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci & Peking Union Med Coll, Inst Hematol & Blood Dis Hosp, Natl Clin Res Ctr Blood Dis, State Key Lab Expt Hematol, 288 Nanjing Rd, Tianjin 300020, Peoples R China Chinese Acad Med Sci & Peking Union Med Coll, Inst Hematol & Blood Dis Hosp, Natl Clin Res Ctr Blood Dis, State Key Lab Expt Hematol, 288 Nanjing Rd, Tianjin 300020, Peoples R ChinaLi, Xingxin论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci & Peking Union Med Coll, Inst Hematol & Blood Dis Hosp, Natl Clin Res Ctr Blood Dis, State Key Lab Expt Hematol, 288 Nanjing Rd, Tianjin 300020, Peoples R China Chinese Acad Med Sci & Peking Union Med Coll, Inst Hematol & Blood Dis Hosp, Natl Clin Res Ctr Blood Dis, State Key Lab Expt Hematol, 288 Nanjing Rd, Tianjin 300020, Peoples R ChinaZhang, Jing论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci & Peking Union Med Coll, Inst Hematol & Blood Dis Hosp, Natl Clin Res Ctr Blood Dis, State Key Lab Expt Hematol, 288 Nanjing Rd, Tianjin 300020, Peoples R China Chinese Acad Med Sci & Peking Union Med Coll, Inst Hematol & Blood Dis Hosp, Natl Clin Res Ctr Blood Dis, State Key Lab Expt Hematol, 288 Nanjing Rd, Tianjin 300020, Peoples R ChinaNie, Neng论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci & Peking Union Med Coll, Inst Hematol & Blood Dis Hosp, Natl Clin Res Ctr Blood Dis, State Key Lab Expt Hematol, 288 Nanjing Rd, Tianjin 300020, Peoples R China Chinese Acad Med Sci & Peking Union Med Coll, Inst Hematol & Blood Dis Hosp, Natl Clin Res Ctr Blood Dis, State Key Lab Expt Hematol, 288 Nanjing Rd, Tianjin 300020, Peoples R ChinaZheng, Yizhou论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci & Peking Union Med Coll, Inst Hematol & Blood Dis Hosp, Natl Clin Res Ctr Blood Dis, State Key Lab Expt Hematol, 288 Nanjing Rd, Tianjin 300020, Peoples R China Chinese Acad Med Sci & Peking Union Med Coll, Inst Hematol & Blood Dis Hosp, Natl Clin Res Ctr Blood Dis, State Key Lab Expt Hematol, 288 Nanjing Rd, Tianjin 300020, Peoples R China
- [36] A hemizygous p.R204Q mutation in the ALAS2 gene underlies X-linked sideroblastic anemia in an adult Chinese Han manBMC Medical Genomics, 14Jinbo Huang论文数: 0 引用数: 0 h-index: 0机构: Chinese Academy of Medical Science and Peking Union Medical College,State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Institute of Hematology and Blood Diseases HospitalMeili Ge论文数: 0 引用数: 0 h-index: 0机构: Chinese Academy of Medical Science and Peking Union Medical College,State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Institute of Hematology and Blood Diseases HospitalYingqi Shao论文数: 0 引用数: 0 h-index: 0机构: Chinese Academy of Medical Science and Peking Union Medical College,State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Institute of Hematology and Blood Diseases HospitalMin Wang论文数: 0 引用数: 0 h-index: 0机构: Chinese Academy of Medical Science and Peking Union Medical College,State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Institute of Hematology and Blood Diseases HospitalPeng Jin论文数: 0 引用数: 0 h-index: 0机构: Chinese Academy of Medical Science and Peking Union Medical College,State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Institute of Hematology and Blood Diseases HospitalJiali Huo论文数: 0 引用数: 0 h-index: 0机构: Chinese Academy of Medical Science and Peking Union Medical College,State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Institute of Hematology and Blood Diseases HospitalXingxin Li论文数: 0 引用数: 0 h-index: 0机构: Chinese Academy of Medical Science and Peking Union Medical College,State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Institute of Hematology and Blood Diseases HospitalJing Zhang论文数: 0 引用数: 0 h-index: 0机构: Chinese Academy of Medical Science and Peking Union Medical College,State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Institute of Hematology and Blood Diseases HospitalNeng Nie论文数: 0 引用数: 0 h-index: 0机构: Chinese Academy of Medical Science and Peking Union Medical College,State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Institute of Hematology and Blood Diseases HospitalYizhou Zheng论文数: 0 引用数: 0 h-index: 0机构: Chinese Academy of Medical Science and Peking Union Medical College,State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Institute of Hematology and Blood Diseases Hospital
- [37] A 12-year-old boy with X-linked agammaglobulinaemia who had breakthrough infection, thrombocytopenia and acute renal failureNATIONAL MEDICAL JOURNAL OF INDIA, 2009, 22 (06): : 310 - 316Bal, Amanjit论文数: 0 引用数: 0 h-index: 0机构: Postgrad Inst Med Educ & Res, Dept Histopathol, Chandigarh 160012, India Postgrad Inst Med Educ & Res, Dept Histopathol, Chandigarh 160012, IndiaRawat, Amit论文数: 0 引用数: 0 h-index: 0机构: Postgrad Inst Med Educ & Res, Dept Paediat, Chandigarh 160012, India Postgrad Inst Med Educ & Res, Dept Histopathol, Chandigarh 160012, IndiaNada, Ritambhra论文数: 0 引用数: 0 h-index: 0机构: Postgrad Inst Med Educ & Res, Dept Histopathol, Chandigarh 160012, India Postgrad Inst Med Educ & Res, Dept Histopathol, Chandigarh 160012, IndiaSingh, Surjit论文数: 0 引用数: 0 h-index: 0机构: Postgrad Inst Med Educ & Res, Dept Paediat, Chandigarh 160012, India Postgrad Inst Med Educ & Res, Dept Histopathol, Chandigarh 160012, India
- [38] Massively parallel sequencing identifies a previously unrecognized X-linked disorder resulting in lethality in male infants owing to amino-terminal acetyltransferase deficiencyGenome Biology, 12 (Suppl 1)Alan F Rope论文数: 0 引用数: 0 h-index: 0机构: University of Utah School of Medicine,Department of Pediatrics (Medical Genetics)Kai Wang论文数: 0 引用数: 0 h-index: 0机构: University of Utah School of Medicine,Department of Pediatrics (Medical Genetics)Rune Evjenth论文数: 0 引用数: 0 h-index: 0机构: University of Utah School of Medicine,Department of Pediatrics (Medical Genetics)Jinchuan Xing论文数: 0 引用数: 0 h-index: 0机构: University of Utah School of Medicine,Department of Pediatrics (Medical Genetics)Jennifer J Johnston论文数: 0 引用数: 0 h-index: 0机构: University of Utah School of Medicine,Department of Pediatrics (Medical Genetics)Jeffrey J Swensen论文数: 0 引用数: 0 h-index: 0机构: University of Utah School of Medicine,Department of Pediatrics (Medical Genetics)W Evan Johnson论文数: 0 引用数: 0 h-index: 0机构: University of Utah School of Medicine,Department of Pediatrics (Medical Genetics)Barry Moore论文数: 0 引用数: 0 h-index: 0机构: University of Utah School of Medicine,Department of Pediatrics (Medical Genetics)Chad D Huff论文数: 0 引用数: 0 h-index: 0机构: University of Utah School of Medicine,Department of Pediatrics (Medical Genetics)Lynne M Bird论文数: 0 引用数: 0 h-index: 0机构: University of Utah School of Medicine,Department of Pediatrics (Medical Genetics)John C Carey论文数: 0 引用数: 0 h-index: 0机构: University of Utah School of Medicine,Department of Pediatrics (Medical Genetics)John M Opitz论文数: 0 引用数: 0 h-index: 0机构: University of Utah School of Medicine,Department of Pediatrics (Medical Genetics)Cathy A Stevens论文数: 0 引用数: 0 h-index: 0机构: University of Utah School of Medicine,Department of Pediatrics (Medical Genetics)Christa Schank论文数: 0 引用数: 0 h-index: 0机构: University of Utah School of Medicine,Department of Pediatrics (Medical Genetics)Heidi Deborah Fain论文数: 0 引用数: 0 h-index: 0机构: University of Utah School of Medicine,Department of Pediatrics (Medical Genetics)Reid Robison论文数: 0 引用数: 0 h-index: 0机构: University of Utah School of Medicine,Department of Pediatrics (Medical Genetics)Brian Dalley论文数: 0 引用数: 0 h-index: 0机构: University of Utah School of Medicine,Department of Pediatrics (Medical Genetics)Steven Chin论文数: 0 引用数: 0 h-index: 0机构: University of Utah School of Medicine,Department of Pediatrics (Medical Genetics)Sarah T South论文数: 0 引用数: 0 h-index: 0机构: University of Utah School of Medicine,Department of Pediatrics (Medical Genetics)Theodore J Pysher论文数: 0 引用数: 0 h-index: 0机构: University of Utah School of Medicine,Department of Pediatrics (Medical Genetics)Lynn B Jorde论文数: 0 引用数: 0 h-index: 0机构: University of Utah School of Medicine,Department of Pediatrics (Medical Genetics)Hakon Hakonarson论文数: 0 引用数: 0 h-index: 0机构: University of Utah School of Medicine,Department of Pediatrics (Medical Genetics)Johan R Lillehaug论文数: 0 引用数: 0 h-index: 0机构: University of Utah School of Medicine,Department of Pediatrics (Medical Genetics)Leslie G Biesecker论文数: 0 引用数: 0 h-index: 0机构: University of Utah School of Medicine,Department of Pediatrics (Medical Genetics)Mark Yandell论文数: 0 引用数: 0 h-index: 0机构: University of Utah School of Medicine,Department of Pediatrics (Medical Genetics)Thomas Arnesen论文数: 0 引用数: 0 h-index: 0机构: University of Utah School of Medicine,Department of Pediatrics (Medical Genetics)Gholson J Lyon论文数: 0 引用数: 0 h-index: 0机构: University of Utah School of Medicine,Department of Pediatrics (Medical Genetics)
- [39] Massively parallel sequencing identifies a previously unrecognized X-linked disorder resulting in lethality in male infants owing to amino-terminal acetyltransferase deficiencyGenome Biology, 12 (Suppl 1)Alan F Rope论文数: 0 引用数: 0 h-index: 0机构: University of Utah School of Medicine,Department of Pediatrics (Medical Genetics)Kai Wang论文数: 0 引用数: 0 h-index: 0机构: University of Utah School of Medicine,Department of Pediatrics (Medical Genetics)Rune Evjenth论文数: 0 引用数: 0 h-index: 0机构: University of Utah School of Medicine,Department of Pediatrics (Medical Genetics)Jinchuan Xing论文数: 0 引用数: 0 h-index: 0机构: University of Utah School of Medicine,Department of Pediatrics (Medical Genetics)Jennifer J Johnston论文数: 0 引用数: 0 h-index: 0机构: University of Utah School of Medicine,Department of Pediatrics (Medical Genetics)Jeffrey J Swensen论文数: 0 引用数: 0 h-index: 0机构: University of Utah School of Medicine,Department of Pediatrics (Medical Genetics)Evan W Johnson论文数: 0 引用数: 0 h-index: 0机构: University of Utah School of Medicine,Department of Pediatrics (Medical Genetics)Barry Moore论文数: 0 引用数: 0 h-index: 0机构: University of Utah School of Medicine,Department of Pediatrics (Medical Genetics)Chad D Huff论文数: 0 引用数: 0 h-index: 0机构: University of Utah School of Medicine,Department of Pediatrics (Medical Genetics)Lynne M Bird论文数: 0 引用数: 0 h-index: 0机构: University of Utah School of Medicine,Department of Pediatrics (Medical Genetics)John C Carey论文数: 0 引用数: 0 h-index: 0机构: University of Utah School of Medicine,Department of Pediatrics (Medical Genetics)John M Opitz论文数: 0 引用数: 0 h-index: 0机构: University of Utah School of Medicine,Department of Pediatrics (Medical Genetics)Cathy A Stevens论文数: 0 引用数: 0 h-index: 0机构: University of Utah School of Medicine,Department of Pediatrics (Medical Genetics)Christa Schank论文数: 0 引用数: 0 h-index: 0机构: University of Utah School of Medicine,Department of Pediatrics (Medical Genetics)Deborah Heidi Fain论文数: 0 引用数: 0 h-index: 0机构: University of Utah School of Medicine,Department of Pediatrics (Medical Genetics)Reid Robison论文数: 0 引用数: 0 h-index: 0机构: University of Utah School of Medicine,Department of Pediatrics (Medical Genetics)Brian Dalley论文数: 0 引用数: 0 h-index: 0机构: University of Utah School of Medicine,Department of Pediatrics (Medical Genetics)Steven Chin论文数: 0 引用数: 0 h-index: 0机构: University of Utah School of Medicine,Department of Pediatrics (Medical Genetics)Sarah T South论文数: 0 引用数: 0 h-index: 0机构: University of Utah School of Medicine,Department of Pediatrics (Medical Genetics)Theodore J Pysher论文数: 0 引用数: 0 h-index: 0机构: University of Utah School of Medicine,Department of Pediatrics (Medical Genetics)Lynn B Jorde论文数: 0 引用数: 0 h-index: 0机构: University of Utah School of Medicine,Department of Pediatrics (Medical Genetics)Hakon Hakonarson论文数: 0 引用数: 0 h-index: 0机构: University of Utah School of Medicine,Department of Pediatrics (Medical Genetics)Johan R Lillehaug论文数: 0 引用数: 0 h-index: 0机构: University of Utah School of Medicine,Department of Pediatrics (Medical Genetics)Leslie G Biesecker论文数: 0 引用数: 0 h-index: 0机构: University of Utah School of Medicine,Department of Pediatrics (Medical Genetics)Mark Yandell论文数: 0 引用数: 0 h-index: 0机构: University of Utah School of Medicine,Department of Pediatrics (Medical Genetics)Thomas Arnesen论文数: 0 引用数: 0 h-index: 0机构: University of Utah School of Medicine,Department of Pediatrics (Medical Genetics)Gholson J Lyon论文数: 0 引用数: 0 h-index: 0机构: University of Utah School of Medicine,Department of Pediatrics (Medical Genetics)
- [40] X-LINKED SIDEROBLASTIC ANEMIA - IDENTIFICATION OF THE MUTATION IN THE ERYTHROID-SPECIFIC DELTA-AMINOLEVULINATE SYNTHASE GENE (ALAS2) IN THE ORIGINAL FAMILY DESCRIBED BY COOLEYBLOOD, 1994, 84 (11) : 3915 - 3924COTTER, PD论文数: 0 引用数: 0 h-index: 0机构: CUNY MT SINAI SCH MED,DEPT HUMAN GENET,NEW YORK,NY 10029RUCKNAGEL, DL论文数: 0 引用数: 0 h-index: 0机构: CUNY MT SINAI SCH MED,DEPT HUMAN GENET,NEW YORK,NY 10029BISHOP, DF论文数: 0 引用数: 0 h-index: 0机构: CUNY MT SINAI SCH MED,DEPT HUMAN GENET,NEW YORK,NY 10029