共 50 条
- [31] Identification of a novel HLA-A*24 variant in a Maldivian family with a bone marrow patient, by sequence based typingTISSUE ANTIGENS, 2010, 75 (05): : 513 - 513Cervelli, Carla论文数: 0 引用数: 0 h-index: 0机构: Reg Ctr Immunohaemathol & Tissue Typing, Laquila, Italy Reg Ctr Immunohaemathol & Tissue Typing, Laquila, ItalyCanossi, Angelica论文数: 0 引用数: 0 h-index: 0机构: Inst Organ Transplant & Immunocitol, Laquila, Italy Reg Ctr Immunohaemathol & Tissue Typing, Laquila, ItalyAzzarone, Raffaella论文数: 0 引用数: 0 h-index: 0机构: Reg Ctr Immunohaemathol & Tissue Typing, Laquila, Italy Reg Ctr Immunohaemathol & Tissue Typing, Laquila, ItalyScimitarra, Maria论文数: 0 引用数: 0 h-index: 0机构: Reg Ctr Immunohaemathol & Tissue Typing, Laquila, Italy Reg Ctr Immunohaemathol & Tissue Typing, Laquila, ItalyFracassi, Daniela论文数: 0 引用数: 0 h-index: 0机构: Reg Ctr Immunohaemathol & Tissue Typing, Laquila, Italy Reg Ctr Immunohaemathol & Tissue Typing, Laquila, ItalyBattistoni, Carla论文数: 0 引用数: 0 h-index: 0机构: Reg Ctr Immunohaemathol & Tissue Typing, Laquila, Italy Reg Ctr Immunohaemathol & Tissue Typing, Laquila, ItalyDi Iulio, Barbara论文数: 0 引用数: 0 h-index: 0机构: Reg Ctr Immunohaemathol & Tissue Typing, Laquila, Italy Reg Ctr Immunohaemathol & Tissue Typing, Laquila, ItalyScarnecchia, Maria Assunta论文数: 0 引用数: 0 h-index: 0机构: Reg Ctr Immunohaemathol & Tissue Typing, Laquila, Italy Reg Ctr Immunohaemathol & Tissue Typing, Laquila, ItalyPapola, Franco论文数: 0 引用数: 0 h-index: 0机构: Reg Ctr Immunohaemathol & Tissue Typing, Laquila, Italy Reg Ctr Immunohaemathol & Tissue Typing, Laquila, Italy
- [32] A novel cause of DKC1-related bone marrow failure: Partial deletion of the 3′ untranslated regionEJHAEM, 2021, 2 (02): : 157 - 166Arthur, Jonathan W.论文数: 0 引用数: 0 h-index: 0机构: Univ Sydney, Childrens Med Res Inst, Fac Med & Hlth, Westmead, NSW, Australia Univ Sydney, Childrens Med Res Inst, Fac Med & Hlth, Westmead, NSW, AustraliaPickett, Hilda A.论文数: 0 引用数: 0 h-index: 0机构: Univ Sydney, Childrens Med Res Inst, Fac Med & Hlth, Westmead, NSW, Australia Univ Sydney, Childrens Med Res Inst, Fac Med & Hlth, Westmead, NSW, AustraliaBarbaro, Pasquale M.论文数: 0 引用数: 0 h-index: 0机构: Univ Sydney, Childrens Med Res Inst, Fac Med & Hlth, Westmead, NSW, Australia Univ Sydney, Childrens Med Res Inst, Fac Med & Hlth, Westmead, NSW, AustraliaKilo, Tatjana论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Haematol Dept, Westmead, NSW, Australia Univ Sydney, Childrens Med Res Inst, Fac Med & Hlth, Westmead, NSW, AustraliaVasireddy, Raja S.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Haematol Dept, Westmead, NSW, Australia Univ Sydney, Childrens Med Res Inst, Fac Med & Hlth, Westmead, NSW, AustraliaBeilharz, Traude H.论文数: 0 引用数: 0 h-index: 0机构: Monash Univ, Monash Biomed Discovery Inst, Dept Biochem & Mol Biol, Clayton, Vic, Australia Univ Sydney, Childrens Med Res Inst, Fac Med & Hlth, Westmead, NSW, Australia论文数: 引用数: h-index:机构:Hackett, Emma L.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Dept Mol Genet, Westmead, NSW, Australia Univ Sydney, Childrens Med Res Inst, Fac Med & Hlth, Westmead, NSW, Australia论文数: 引用数: h-index:机构:Curtin, Julie A.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Haematol Dept, Westmead, NSW, Australia Univ Sydney, Childrens Med Res Inst, Fac Med & Hlth, Westmead, NSW, AustraliaJones, Kristi论文数: 0 引用数: 0 h-index: 0机构: Univ Sydney, Fac Med & Hlth, Disciplines Genet Med & Child & Adolescent Hlth, Sydney, NSW, Australia Childrens Hosp Westmead, Dept Clin Genet, Westmead, NSW, Australia Univ Sydney, Childrens Med Res Inst, Fac Med & Hlth, Westmead, NSW, AustraliaChristodoulou, John论文数: 0 引用数: 0 h-index: 0机构: Univ Sydney, Fac Med & Hlth, Disciplines Genet Med & Child & Adolescent Hlth, Sydney, NSW, Australia Melbourne Med Sch, Murdoch Childrens Res Inst, Parkville, Vic, Australia Melbourne Med Sch, Dept Paediat, Parkville, Vic, Australia Univ Sydney, Childrens Med Res Inst, Fac Med & Hlth, Westmead, NSW, AustraliaReddel, Roger R.论文数: 0 引用数: 0 h-index: 0机构: Univ Sydney, Childrens Med Res Inst, Fac Med & Hlth, Westmead, NSW, Australia Univ Sydney, Childrens Med Res Inst, Fac Med & Hlth, Westmead, NSW, AustraliaTeo, Juliana论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Haematol Dept, Westmead, NSW, Australia Univ Sydney, Childrens Med Res Inst, Fac Med & Hlth, Westmead, NSW, AustraliaBryan, Tracy M.论文数: 0 引用数: 0 h-index: 0机构: Univ Sydney, Childrens Med Res Inst, Fac Med & Hlth, Westmead, NSW, Australia Childrens Med Res Inst, Cell Biol Unit, 214 Hawkesbury Rd, Westmead, NSW 2145, Australia Univ Sydney, Childrens Med Res Inst, Fac Med & Hlth, Westmead, NSW, Australia
- [33] Next-generation Sequencing in Bone Marrow Failure Syndromes and Isolated Cytopenias: Experience of the Spanish Network on Bone Marrow Failure SyndromesHEMASPHERE, 2021, 5 (04):Galvez, Eva论文数: 0 引用数: 0 h-index: 0机构: Hosp Infantil Univ Nino Jesus, Fdn Invest Biomed, Serv Hematol & Oncol Pediat, Madrid, Spain ISCIII, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Madrid, Spain Hosp Infantil Univ Nino Jesus, Fdn Invest Biomed, Serv Hematol & Oncol Pediat, Madrid, SpainVallespin, Elena论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ La Paz, Inst Med & Mol Genet INGEMM, IDIPAZ, Madrid, Spain Inst Invest Biomed CSIC UAM, IDIPaz, Madrid, Spain Hosp Infantil Univ Nino Jesus, Fdn Invest Biomed, Serv Hematol & Oncol Pediat, Madrid, SpainArias-Salgado, Elena G.论文数: 0 引用数: 0 h-index: 0机构: Inst Invest Biomed CSIC UAM, IDIPaz, Madrid, Spain Hosp Infantil Univ Nino Jesus, Fdn Invest Biomed, Serv Hematol & Oncol Pediat, Madrid, SpainSanchez-Valdepenas, Carmen论文数: 0 引用数: 0 h-index: 0机构: Hosp Infantil Univ Nino Jesus, Fdn Invest Biomed, Serv Hematol & Oncol Pediat, Madrid, Spain Hosp Infantil Univ Nino Jesus, Fdn Invest Biomed, Serv Hematol & Oncol Pediat, Madrid, SpainGimenez, Yari论文数: 0 引用数: 0 h-index: 0机构: ISCIII, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Madrid, Spain Ctr Invest Energet Medioambientales & Tecnol, Hematopoiet Innovat Therapies Div, Madrid, Spain Hosp Infantil Univ Nino Jesus, Fdn Invest Biomed, Serv Hematol & Oncol Pediat, Madrid, SpainNavarro, Susana论文数: 0 引用数: 0 h-index: 0机构: ISCIII, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Madrid, Spain Ctr Invest Energet Medioambientales & Tecnol, Hematopoiet Innovat Therapies Div, Madrid, Spain Hosp Infantil Univ Nino Jesus, Fdn Invest Biomed, Serv Hematol & Oncol Pediat, Madrid, SpainRio, Paula论文数: 0 引用数: 0 h-index: 0机构: ISCIII, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Madrid, Spain Ctr Invest Energet Medioambientales & Tecnol, Hematopoiet Innovat Therapies Div, Madrid, Spain Hosp Infantil Univ Nino Jesus, Fdn Invest Biomed, Serv Hematol & Oncol Pediat, Madrid, SpainBogliolo, Massimo论文数: 0 引用数: 0 h-index: 0机构: ISCIII, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Madrid, Spain Hosp Santa Creu & Sant Pau, Unidad Med Genom, Inst Invest Biomed, Barcelona, Spain Univ Autonoma Barcelona, Dept Genet & Microbiol, Barcelona, Spain Hosp Infantil Univ Nino Jesus, Fdn Invest Biomed, Serv Hematol & Oncol Pediat, Madrid, SpainPujol, Roser论文数: 0 引用数: 0 h-index: 0机构: ISCIII, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Madrid, Spain Hosp Santa Creu & Sant Pau, Unidad Med Genom, Inst Invest Biomed, Barcelona, Spain Univ Autonoma Barcelona, Dept Genet & Microbiol, Barcelona, Spain Hosp Infantil Univ Nino Jesus, Fdn Invest Biomed, Serv Hematol & Oncol Pediat, Madrid, SpainPeiro, Montserrat论文数: 0 引用数: 0 h-index: 0机构: ISCIII, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Madrid, Spain Hosp Santa Creu & Sant Pau, Unidad Med Genom, Inst Invest Biomed, Barcelona, Spain Univ Autonoma Barcelona, Dept Genet & Microbiol, Barcelona, Spain Hosp Infantil Univ Nino Jesus, Fdn Invest Biomed, Serv Hematol & Oncol Pediat, Madrid, SpainNevado, Julian论文数: 0 引用数: 0 h-index: 0机构: ISCIII, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Madrid, Spain Hosp Univ La Paz, Inst Med & Mol Genet INGEMM, IDIPAZ, Madrid, Spain European Reference Network, ITHACA, Barcelona, Spain Hosp Infantil Univ Nino Jesus, Fdn Invest Biomed, Serv Hematol & Oncol Pediat, Madrid, SpainZubicaray, Josune论文数: 0 引用数: 0 h-index: 0机构: Hosp Infantil Univ Nino Jesus, Fdn Invest Biomed, Serv Hematol & Oncol Pediat, Madrid, Spain Hosp Infantil Univ Nino Jesus, Fdn Invest Biomed, Serv Hematol & Oncol Pediat, Madrid, SpainSebastian, Elena论文数: 0 引用数: 0 h-index: 0机构: Hosp Infantil Univ Nino Jesus, Fdn Invest Biomed, Serv Hematol & Oncol Pediat, Madrid, Spain Hosp Infantil Univ Nino Jesus, Fdn Invest Biomed, Serv Hematol & Oncol Pediat, Madrid, SpainCatala, Albert论文数: 0 引用数: 0 h-index: 0机构: ISCIII, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Madrid, Spain Hosp St Joan Deu, Serv Hematol & Oncol, Barcelona, Spain Grp Insuficiencias Medulares SEHOP, Barcelona, Spain Hosp Infantil Univ Nino Jesus, Fdn Invest Biomed, Serv Hematol & Oncol Pediat, Madrid, SpainBelendez, Cristina论文数: 0 引用数: 0 h-index: 0机构: ISCIII, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Madrid, Spain Grp Insuficiencias Medulares SEHOP, Barcelona, Spain Hosp Gregorio Maranon, Serv Hematol & Oncol, Madrid, Spain Hosp Infantil Univ Nino Jesus, Fdn Invest Biomed, Serv Hematol & Oncol Pediat, Madrid, SpainDiaz de Heredia, Cristina论文数: 0 引用数: 0 h-index: 0机构: Grp Insuficiencias Medulares SEHOP, Barcelona, Spain Hosp Valle De Hebron, Serv Hematol & Oncol Pediat, Barcelona, Spain Vall dHebron Inst Recerca, Barcelona, Spain Hosp Infantil Univ Nino Jesus, Fdn Invest Biomed, Serv Hematol & Oncol Pediat, Madrid, SpainGalera, Ana论文数: 0 引用数: 0 h-index: 0机构: Grp Insuficiencias Medulares SEHOP, Barcelona, Spain Hosp Univ Virgen de la Arrixaca, Murcia, Spain Hosp Infantil Univ Nino Jesus, Fdn Invest Biomed, Serv Hematol & Oncol Pediat, Madrid, SpainBadell, Isabel论文数: 0 引用数: 0 h-index: 0机构: ISCIII, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Madrid, Spain Univ Autonoma Barcelona, Hosp Santa Creu & St Pau, Unidad Pediat Hematol Oncol & TPH, Inst Recerca Hosp St Pau, Barcelona, Spain Hosp Infantil Univ Nino Jesus, Fdn Invest Biomed, Serv Hematol & Oncol Pediat, Madrid, SpainMadero, Luis论文数: 0 引用数: 0 h-index: 0机构: Hosp Infantil Univ Nino Jesus, Fdn Invest Biomed, Serv Hematol & Oncol Pediat, Madrid, Spain Hosp Infantil Univ Nino Jesus, Fdn Invest Biomed, Serv Hematol & Oncol Pediat, Madrid, SpainPerona, Rosario论文数: 0 引用数: 0 h-index: 0机构: ISCIII, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Madrid, Spain Inst Invest Biomed CSIC UAM, IDIPaz, Madrid, Spain Hosp Infantil Univ Nino Jesus, Fdn Invest Biomed, Serv Hematol & Oncol Pediat, Madrid, SpainSastre, Leandro论文数: 0 引用数: 0 h-index: 0机构: ISCIII, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Madrid, Spain Inst Invest Biomed CSIC UAM, IDIPaz, Madrid, Spain Hosp Infantil Univ Nino Jesus, Fdn Invest Biomed, Serv Hematol & Oncol Pediat, Madrid, SpainSurralles, Jordi论文数: 0 引用数: 0 h-index: 0机构: ISCIII, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Madrid, Spain Hosp Santa Creu & Sant Pau, Unidad Med Genom, Inst Invest Biomed, Barcelona, Spain Univ Autonoma Barcelona, Dept Genet & Microbiol, Barcelona, Spain Univ Autonoma Barcelona, Serv Genet, Hosp Santa Creu & St Pau, Inst Recerca Hosp St Pau, Barcelona, Spain Hosp Infantil Univ Nino Jesus, Fdn Invest Biomed, Serv Hematol & Oncol Pediat, Madrid, SpainBueren, Juan论文数: 0 引用数: 0 h-index: 0机构: ISCIII, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Madrid, Spain Ctr Invest Energet Medioambientales & Tecnol, Hematopoiet Innovat Therapies Div, Madrid, Spain Hosp Infantil Univ Nino Jesus, Fdn Invest Biomed, Serv Hematol & Oncol Pediat, Madrid, SpainLapunzina, Pablo论文数: 0 引用数: 0 h-index: 0机构: ISCIII, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Madrid, Spain Hosp Univ La Paz, Inst Med & Mol Genet INGEMM, IDIPAZ, Madrid, Spain European Reference Network, ITHACA, Barcelona, Spain Hosp Infantil Univ Nino Jesus, Fdn Invest Biomed, Serv Hematol & Oncol Pediat, Madrid, SpainSevilla, Julian论文数: 0 引用数: 0 h-index: 0机构: Hosp Infantil Univ Nino Jesus, Fdn Invest Biomed, Serv Hematol & Oncol Pediat, Madrid, Spain ISCIII, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Madrid, Spain Grp Insuficiencias Medulares SEHOP, Barcelona, Spain Hosp Infantil Univ Nino Jesus, Fdn Invest Biomed, Serv Hematol & Oncol Pediat, Madrid, Spain
- [34] NOVEL 3Q26 DELETION BONE MARROW FAILURE SYNDROME IN A NEWBORN RESULTING IN DOMINANT NEGATIVE INTERFERENCE OF HEMATOPOIESIS BY TRUNCATED EVI1/MECOMHAEMATOLOGICA, 2013, 98 : 86 - 87Van Der Veken, L.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, Netherlands Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, NetherlandsBierings, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Pediat Oncol, Utrecht, Netherlands Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, NetherlandsMaiburg, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, Netherlands Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, NetherlandsGroenendaal, F.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Neonatol, Utrecht, Netherlands Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, NetherlandsBloem, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Immunol, Utrecht, Netherlands Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, NetherlandsKnoers, N.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, Netherlands Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, NetherlandsBuijs, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, Netherlands Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, Netherlands
- [35] Identification of a Variant in APOB Gene as a Major Cause of Hypobetalipoproteinemia in Lebanese FamiliesMETABOLITES, 2021, 11 (09)Ayoub, Carine论文数: 0 引用数: 0 h-index: 0机构: St Joseph Univ Beirut, Fac Pharm, Lab Biochem & Mol Therapeut LBTM, Pole Technol Sante, Beirut 175208, Lebanon St Joseph Univ Beirut, Fac Pharm, Lab Biochem & Mol Therapeut LBTM, Pole Technol Sante, Beirut 175208, LebanonAzar, Yara论文数: 0 引用数: 0 h-index: 0机构: St Joseph Univ Beirut, Fac Pharm, Lab Biochem & Mol Therapeut LBTM, Pole Technol Sante, Beirut 175208, Lebanon Hop Xavier Bichat, Lab Vasc Translat Sci LVTS, INSERM U1148, F-75018 Paris, France Univ Paris, CHU Xavier Bichat, F-75018 Paris, France St Joseph Univ Beirut, Fac Pharm, Lab Biochem & Mol Therapeut LBTM, Pole Technol Sante, Beirut 175208, LebanonAbou-Khalil, Yara论文数: 0 引用数: 0 h-index: 0机构: St Joseph Univ Beirut, Fac Pharm, Lab Biochem & Mol Therapeut LBTM, Pole Technol Sante, Beirut 175208, Lebanon Hop Xavier Bichat, Lab Vasc Translat Sci LVTS, INSERM U1148, F-75018 Paris, France Univ Paris, CHU Xavier Bichat, F-75018 Paris, France St Joseph Univ Beirut, Fac Pharm, Lab Biochem & Mol Therapeut LBTM, Pole Technol Sante, Beirut 175208, LebanonGhaleb, Youmna论文数: 0 引用数: 0 h-index: 0机构: St Joseph Univ Beirut, Fac Pharm, Lab Biochem & Mol Therapeut LBTM, Pole Technol Sante, Beirut 175208, Lebanon Hop Xavier Bichat, Lab Vasc Translat Sci LVTS, INSERM U1148, F-75018 Paris, France St Joseph Univ Beirut, Fac Pharm, Lab Biochem & Mol Therapeut LBTM, Pole Technol Sante, Beirut 175208, LebanonElbitar, Sandy论文数: 0 引用数: 0 h-index: 0机构: St Joseph Univ Beirut, Fac Pharm, Lab Biochem & Mol Therapeut LBTM, Pole Technol Sante, Beirut 175208, Lebanon Hop Xavier Bichat, Lab Vasc Translat Sci LVTS, INSERM U1148, F-75018 Paris, France St Joseph Univ Beirut, Fac Pharm, Lab Biochem & Mol Therapeut LBTM, Pole Technol Sante, Beirut 175208, LebanonHalaby, Georges论文数: 0 引用数: 0 h-index: 0机构: St Joseph Univ Beirut, Fac Med, Beirut 175208, Lebanon St Joseph Univ Beirut, Fac Pharm, Lab Biochem & Mol Therapeut LBTM, Pole Technol Sante, Beirut 175208, LebanonJambart, Selim论文数: 0 引用数: 0 h-index: 0机构: St Joseph Univ Beirut, Fac Med, Beirut 175208, Lebanon St Joseph Univ Beirut, Fac Pharm, Lab Biochem & Mol Therapeut LBTM, Pole Technol Sante, Beirut 175208, LebanonGannage-Yared, Marie-Helene论文数: 0 引用数: 0 h-index: 0机构: St Joseph Univ Beirut, Fac Med, Beirut 175208, Lebanon Beirut Univ Hosp, Hotel Dieu France, Beirut 166830, Lebanon St Joseph Univ Beirut, Fac Pharm, Lab Biochem & Mol Therapeut LBTM, Pole Technol Sante, Beirut 175208, LebanonYaghi, Cesar论文数: 0 引用数: 0 h-index: 0机构: St Joseph Univ Beirut, Fac Med, Beirut 175208, Lebanon Beirut Univ Hosp, Hotel Dieu France, Beirut 166830, Lebanon St Joseph Univ Beirut, Fac Pharm, Lab Biochem & Mol Therapeut LBTM, Pole Technol Sante, Beirut 175208, LebanonRiachy, Carole Saade论文数: 0 引用数: 0 h-index: 0机构: St Joseph Univ Beirut, Fac Med, Beirut 175208, Lebanon St Joseph Univ Beirut, Fac Pharm, Lab Biochem & Mol Therapeut LBTM, Pole Technol Sante, Beirut 175208, LebanonEl Khoury, Ralph论文数: 0 引用数: 0 h-index: 0机构: St Joseph Univ Beirut, Fac Med, Beirut 175208, Lebanon St Joseph Univ Beirut, Fac Pharm, Lab Biochem & Mol Therapeut LBTM, Pole Technol Sante, Beirut 175208, LebanonRabes, Jean-Pierre论文数: 0 引用数: 0 h-index: 0机构: Hop Xavier Bichat, Lab Vasc Translat Sci LVTS, INSERM U1148, F-75018 Paris, France Univ Paris Saclay, Ambroise Pare Hosp, AP HP, UVSQ,UFR Simone Veil Sante,Biochem & Mol Genet La, F-78180 Montigny Le Bretonneux, France St Joseph Univ Beirut, Fac Pharm, Lab Biochem & Mol Therapeut LBTM, Pole Technol Sante, Beirut 175208, LebanonVarret, Mathilde论文数: 0 引用数: 0 h-index: 0机构: Hop Xavier Bichat, Lab Vasc Translat Sci LVTS, INSERM U1148, F-75018 Paris, France Univ Paris, CHU Xavier Bichat, F-75018 Paris, France St Joseph Univ Beirut, Fac Pharm, Lab Biochem & Mol Therapeut LBTM, Pole Technol Sante, Beirut 175208, LebanonBoileau, Catherine论文数: 0 引用数: 0 h-index: 0机构: Hop Xavier Bichat, Lab Vasc Translat Sci LVTS, INSERM U1148, F-75018 Paris, France Univ Paris, CHU Xavier Bichat, F-75018 Paris, France Hop Xavier Bichat, AP HP, Genet Dept, F-75018 Paris, France St Joseph Univ Beirut, Fac Pharm, Lab Biochem & Mol Therapeut LBTM, Pole Technol Sante, Beirut 175208, LebanonEl Khoury, Petra论文数: 0 引用数: 0 h-index: 0机构: St Joseph Univ Beirut, Fac Pharm, Lab Biochem & Mol Therapeut LBTM, Pole Technol Sante, Beirut 175208, Lebanon Hop Xavier Bichat, Lab Vasc Translat Sci LVTS, INSERM U1148, F-75018 Paris, France St Joseph Univ Beirut, Fac Pharm, Lab Biochem & Mol Therapeut LBTM, Pole Technol Sante, Beirut 175208, LebanonAbifadel, Marianne论文数: 0 引用数: 0 h-index: 0机构: St Joseph Univ Beirut, Fac Pharm, Lab Biochem & Mol Therapeut LBTM, Pole Technol Sante, Beirut 175208, Lebanon Hop Xavier Bichat, Lab Vasc Translat Sci LVTS, INSERM U1148, F-75018 Paris, France St Joseph Univ Beirut, Fac Pharm, Lab Biochem & Mol Therapeut LBTM, Pole Technol Sante, Beirut 175208, Lebanon
- [36] Identification of novel variant A alleles within the ABO geneTRANSFUSION, 2016, 56 (05) : 1244 - 1246Fichou, Yann论文数: 0 引用数: 0 h-index: 0机构: Etab Francais Sang EFS Reg Bretagne, Brest, France INSERM, UMR1078, Brest, France Etab Francais Sang EFS Reg Bretagne, Brest, FranceHennion, Michel论文数: 0 引用数: 0 h-index: 0机构: EFS Nord de France, Lab Qualificat Biol Dons QBD, Lille, France Etab Francais Sang EFS Reg Bretagne, Brest, FranceDupont, Isabelle论文数: 0 引用数: 0 h-index: 0机构: Etab Francais Sang EFS Reg Bretagne, Brest, France Etab Francais Sang EFS Reg Bretagne, Brest, FranceJamet, Deborah论文数: 0 引用数: 0 h-index: 0机构: Etab Francais Sang EFS Reg Bretagne, Brest, France Etab Francais Sang EFS Reg Bretagne, Brest, FranceLe Marechal, Cedric论文数: 0 引用数: 0 h-index: 0机构: Etab Francais Sang EFS Reg Bretagne, Brest, France INSERM, UMR1078, Brest, France Univ Bretagne Occidentale, Fac Med & Sci Sante, Brest, France Hop Morvan, Lab Genet Mol & Histocompatibilite, CHRU, Brest, France Etab Francais Sang EFS Reg Bretagne, Brest, FranceFerec, Claude论文数: 0 引用数: 0 h-index: 0机构: Etab Francais Sang EFS Reg Bretagne, Brest, France INSERM, UMR1078, Brest, France Univ Bretagne Occidentale, Fac Med & Sci Sante, Brest, France Hop Morvan, Lab Genet Mol & Histocompatibilite, CHRU, Brest, France Etab Francais Sang EFS Reg Bretagne, Brest, France
- [37] Identification of a novel HLA-A*01 variant, HLA-A*01:211, in a Singaporean Malay bone marrow donorHLA, 2020, 96 (03) : 329 - 330Kaur, Ashminder论文数: 0 引用数: 0 h-index: 0机构: Bone Marrow Donor Programme, Search & Transplant Serv, Singapore, Singapore Bone Marrow Donor Programme, Search & Transplant Serv, Singapore, SingaporeCho, Louise论文数: 0 引用数: 0 h-index: 0机构: Bone Marrow Donor Programme, Search & Transplant Serv, Singapore, Singapore Bone Marrow Donor Programme, Search & Transplant Serv, Singapore, SingaporeCereb, Nezih论文数: 0 引用数: 0 h-index: 0机构: Histogenetics Inc, HLA Lab, Histogenet, Ossining, NY USA Bone Marrow Donor Programme, Search & Transplant Serv, Singapore, SingaporeLin, Py-Yu论文数: 0 引用数: 0 h-index: 0机构: Hualien Tzu Chi Hosp, Buddhist Tzu Chi Med Fdn, Buddhist Tzu Chi Stem Cells Ctr, Lab Immunogenet,Tzu Chi Cord Blood Bank, 707 Sect 3,Chung Yang Rd, Hualien, Taiwan Hualien Tzu Chi Hosp, Buddhist Tzu Chi Med Fdn, Buddhist Tzu Chi Stem Cells Ctr, Buddhist Tzu Chi Bone Marrow Donor Registry, 707 Sect 3,Chung Yang Rd, Hualien, Taiwan Bone Marrow Donor Programme, Search & Transplant Serv, Singapore, SingaporeYang, Kuo-Liang论文数: 0 引用数: 0 h-index: 0机构: Hualien Tzu Chi Hosp, Buddhist Tzu Chi Med Fdn, Buddhist Tzu Chi Stem Cells Ctr, Lab Immunogenet,Tzu Chi Cord Blood Bank, 707 Sect 3,Chung Yang Rd, Hualien, Taiwan Hualien Tzu Chi Hosp, Buddhist Tzu Chi Med Fdn, Buddhist Tzu Chi Stem Cells Ctr, Buddhist Tzu Chi Bone Marrow Donor Registry, 707 Sect 3,Chung Yang Rd, Hualien, Taiwan Buddhist Tzu Chi Univ, Dept Lab Med & Biotechnol, Hualien, Taiwan Bone Marrow Donor Programme, Search & Transplant Serv, Singapore, Singapore
- [38] Transcobalamin (TC) deficiency-Potential cause of bone marrow failure in childhoodJOURNAL OF INHERITED METABOLIC DISEASE, 2008, 31 : S287 - S292Prasad, C.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, London Hlth Sci Ctr, Med Genet Program SW Ontario, London, ON N6C 2V5, Canada Childrens Hosp Western Ontario, Dept Pediat, London, ON, Canada Univ Western Ontario, London, ON, Canada Childrens Hlth Res Inst, London, ON, Canada Childrens Hosp, London Hlth Sci Ctr, Med Genet Program SW Ontario, London, ON N6C 2V5, CanadaRosenblatt, D. S.论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Dept Human Genet, Montreal, PQ, Canada Childrens Hosp, London Hlth Sci Ctr, Med Genet Program SW Ontario, London, ON N6C 2V5, CanadaCorley, K.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Western Ontario, Dept Pediat, London, ON, Canada Univ Western Ontario, London, ON, Canada Childrens Hosp, London Hlth Sci Ctr, Med Genet Program SW Ontario, London, ON N6C 2V5, CanadaCairney, A. E. L.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Western Ontario, Dept Pediat, London, ON, Canada Univ Western Ontario, London, ON, Canada Childrens Hosp, London Hlth Sci Ctr, Med Genet Program SW Ontario, London, ON N6C 2V5, CanadaRupar, C. A.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Western Ontario, Dept Pediat, London, ON, Canada Univ Western Ontario, London, ON, Canada Childrens Hlth Res Inst, London, ON, Canada Univ Western Ontario, Dept Biochem, London, ON, Canada Childrens Hosp, London Hlth Sci Ctr, Med Genet Program SW Ontario, London, ON N6C 2V5, Canada
- [39] Pancytopenia, splenomegaly, and mild bony abnormalities secondary to novel variants in thromboxane synthetase: An unusual cause of bone marrow failurePEDIATRIC BLOOD & CANCER, 2023, 70 (06)Kowalczyk, Alexandra论文数: 0 引用数: 0 h-index: 0机构: Western Univ, Schulich Sch Med & Dent, Dept Pediat, London, ON, Canada Western Univ, Schulich Sch Med & Dent, Dept Pediat, London, ON, CanadaChopra, Yogi Raj论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Dept Pediat, Div Hematol Oncol, Toronto, ON, Canada Western Univ, Schulich Sch Med & Dent, Dept Pediat, London, ON, CanadaSaleh, Maha论文数: 0 引用数: 0 h-index: 0机构: London Hlth Sci Ctr, Med Genet Program Southwestern Ontario, London, ON, Canada Western Univ, Schulich Sch Med & Dent, Dept Pediat, London, ON, CanadaColaiacovo, Samantha论文数: 0 引用数: 0 h-index: 0机构: London Hlth Sci Ctr, Med Genet Program Southwestern Ontario, London, ON, Canada Western Univ, Schulich Sch Med & Dent, Dept Pediat, London, ON, CanadaDror, Yigal论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Dept Pediat, Div Hematol Oncol, Toronto, ON, Canada Western Univ, Schulich Sch Med & Dent, Dept Pediat, London, ON, CanadaLeppington, Sarah论文数: 0 引用数: 0 h-index: 0机构: London Hlth Sci Ctr, Childrens Hosp, London, ON, Canada Western Univ, Schulich Sch Med & Dent, Dept Pediat, London, ON, CanadaTole, Soumitra论文数: 0 引用数: 0 h-index: 0机构: Western Univ, Schulich Sch Med & Dent, Dept Pediat, London, ON, Canada London Hlth Sci Ctr, Dept Pediat, Div Hematol Oncol, London, ON, Canada London Hlth Sci Ctr, Childrens Hosp, Div Pediat Hematol Oncol, 800 Commissioners Rd East, London, ON N6A 5W9, Canada Western Univ, Schulich Sch Med & Dent, Dept Pediat, London, ON, Canada
- [40] Identification of TINF2 gene mutations in adult Japanese patients with acquired bone marrow failure syndromesBRITISH JOURNAL OF HAEMATOLOGY, 2010, 150 (06) : 725 - 727Yamaguchi, Hiroki论文数: 0 引用数: 0 h-index: 0机构: Nippon Med Sch, Dept Internal Med, Div Haematol, Tokyo 113, Japan Nippon Med Sch, Dept Internal Med, Div Haematol, Tokyo 113, JapanInokuchi, Koiti论文数: 0 引用数: 0 h-index: 0机构: Nippon Med Sch, Dept Internal Med, Div Haematol, Tokyo 113, Japan Nippon Med Sch, Dept Internal Med, Div Haematol, Tokyo 113, JapanTakeuchi, Junko论文数: 0 引用数: 0 h-index: 0机构: Nippon Med Sch, Dept Internal Med, Div Haematol, Tokyo 113, Japan Nippon Med Sch, Dept Internal Med, Div Haematol, Tokyo 113, JapanTamai, Hayato论文数: 0 引用数: 0 h-index: 0机构: Nippon Med Sch, Dept Internal Med, Div Haematol, Tokyo 113, Japan Nippon Med Sch, Dept Internal Med, Div Haematol, Tokyo 113, JapanMitamura, Yoshio论文数: 0 引用数: 0 h-index: 0机构: Nippon Med Sch, Dept Internal Med, Div Haematol, Tokyo 113, Japan Nippon Med Sch, Dept Internal Med, Div Haematol, Tokyo 113, JapanKosaka, Fumiko论文数: 0 引用数: 0 h-index: 0机构: Nippon Med Sch, Dept Internal Med, Div Haematol, Tokyo 113, Japan Nippon Med Sch, Dept Internal Med, Div Haematol, Tokyo 113, JapanLy, Hinh论文数: 0 引用数: 0 h-index: 0机构: Emory Univ, Sch Med, Dept Pathol & Lab Med, Atlanta, GA 30322 USA Nippon Med Sch, Dept Internal Med, Div Haematol, Tokyo 113, JapanDan, Kazuo论文数: 0 引用数: 0 h-index: 0机构: Nippon Med Sch, Dept Internal Med, Div Haematol, Tokyo 113, Japan Nippon Med Sch, Dept Internal Med, Div Haematol, Tokyo 113, Japan