共 50 条
- [31] Mild Left Ventricular Hypertrophy Unravels a Novel Nonsense Mutation of the GLA Gene Associated with the Classical Phenotype of Fabry DiseaseCARDIOLOGY, 2017, 137 (02) : 67 - 73Azevedo, Olga论文数: 0 引用数: 0 h-index: 0机构: Hosp Senhora da Oliveira, Reference Ctr Lysosomal Storage Disorders, Dept Cardiol, Rua Cutileiros, PT-4835044 Guimaraes, Portugal Univ Minho, Life & Hlth Sci Res Inst ICVS, Sch Med, Braga, Portugal ICVS 3Bs PT Govt Associate Lab, Braga, Portugal Hosp Senhora da Oliveira, Reference Ctr Lysosomal Storage Disorders, Dept Cardiol, Rua Cutileiros, PT-4835044 Guimaraes, PortugalGago, Miguel论文数: 0 引用数: 0 h-index: 0机构: Hosp Senhora da Oliveira, Reference Ctr Lysosomal Storage Disorders, Dept Neurol, Guimaraes, Portugal Univ Minho, Life & Hlth Sci Res Inst ICVS, Sch Med, Braga, Portugal ICVS 3Bs PT Govt Associate Lab, Braga, Portugal Hosp Senhora da Oliveira, Reference Ctr Lysosomal Storage Disorders, Dept Cardiol, Rua Cutileiros, PT-4835044 Guimaraes, PortugalMiltenberger-Miltenyi, Gabriel论文数: 0 引用数: 0 h-index: 0机构: Hosp Senhora da Oliveira, Reference Ctr Lysosomal Storage Disorders, Dept Genet, Guimaraes, Portugal Univ Minho, Life & Hlth Sci Res Inst ICVS, Sch Med, Braga, Portugal ICVS 3Bs PT Govt Associate Lab, Braga, Portugal Hosp Senhora da Oliveira, Reference Ctr Lysosomal Storage Disorders, Dept Cardiol, Rua Cutileiros, PT-4835044 Guimaraes, PortugalGaspar, Paulo论文数: 0 引用数: 0 h-index: 0机构: Univ Porto, Inst Invest & Inovacao Saude I3S, Organelle Biogenesis & Funct Grp, Oporto, Portugal Univ Porto, Inst Mol & Cell Biol IBMC, Oporto, Portugal Hosp Senhora da Oliveira, Reference Ctr Lysosomal Storage Disorders, Dept Cardiol, Rua Cutileiros, PT-4835044 Guimaraes, PortugalSousa, Nuno论文数: 0 引用数: 0 h-index: 0机构: Univ Minho, Life & Hlth Sci Res Inst ICVS, Sch Med, Braga, Portugal ICVS 3Bs PT Govt Associate Lab, Braga, Portugal Hosp Senhora da Oliveira, Reference Ctr Lysosomal Storage Disorders, Dept Cardiol, Rua Cutileiros, PT-4835044 Guimaraes, PortugalCunha, Damiao论文数: 0 引用数: 0 h-index: 0机构: Univ Minho, Life & Hlth Sci Res Inst ICVS, Sch Med, Braga, Portugal ICVS 3Bs PT Govt Associate Lab, Braga, Portugal Hosp Senhora da Oliveira, Reference Ctr Lysosomal Storage Disorders, Dept Cardiol, Rua Cutileiros, PT-4835044 Guimaraes, Portugal
- [32] Thomsen or Becker myotonia? A novel autosomal recessive nonsense mutation in the CLCN1 gene associated with a mild phenotypeMUSCLE & NERVE, 2012, 45 (02) : 279 - 283Gurgel-Giannetti, Juliana论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Biosci Inst, Ctr Estudos Genoma Humano IB USP, BR-05508900 Sao Paulo, Brazil Univ Fed Minas Gerais, Dept Pediat, Belo Horizonte, MG, Brazil Univ Sao Paulo, Biosci Inst, Ctr Estudos Genoma Humano IB USP, BR-05508900 Sao Paulo, BrazilSenkevics, Adriano S.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Biosci Inst, Ctr Estudos Genoma Humano IB USP, BR-05508900 Sao Paulo, Brazil Univ Sao Paulo, Biosci Inst, Ctr Estudos Genoma Humano IB USP, BR-05508900 Sao Paulo, BrazilZilbersztajn-Gotlieb, Dinorah论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Biosci Inst, Ctr Estudos Genoma Humano IB USP, BR-05508900 Sao Paulo, Brazil Univ Sao Paulo, Biosci Inst, Ctr Estudos Genoma Humano IB USP, BR-05508900 Sao Paulo, BrazilYamamoto, Lydia U.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Biosci Inst, Ctr Estudos Genoma Humano IB USP, BR-05508900 Sao Paulo, Brazil Univ Sao Paulo, Biosci Inst, Ctr Estudos Genoma Humano IB USP, BR-05508900 Sao Paulo, BrazilMuniz, Viviane P.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Biosci Inst, Ctr Estudos Genoma Humano IB USP, BR-05508900 Sao Paulo, Brazil Univ Sao Paulo, Biosci Inst, Ctr Estudos Genoma Humano IB USP, BR-05508900 Sao Paulo, BrazilPavanello, Rita C. M.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Biosci Inst, Ctr Estudos Genoma Humano IB USP, BR-05508900 Sao Paulo, Brazil Univ Sao Paulo, Biosci Inst, Ctr Estudos Genoma Humano IB USP, BR-05508900 Sao Paulo, BrazilOliveira, Acary B.论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Sao Paulo, Dept Neurol, Sao Paulo, Brazil Univ Sao Paulo, Biosci Inst, Ctr Estudos Genoma Humano IB USP, BR-05508900 Sao Paulo, BrazilZatz, Mayana论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Biosci Inst, Ctr Estudos Genoma Humano IB USP, BR-05508900 Sao Paulo, Brazil Univ Sao Paulo, Biosci Inst, Ctr Estudos Genoma Humano IB USP, BR-05508900 Sao Paulo, BrazilVainzof, Mariz论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Biosci Inst, Ctr Estudos Genoma Humano IB USP, BR-05508900 Sao Paulo, Brazil Univ Sao Paulo, Biosci Inst, Ctr Estudos Genoma Humano IB USP, BR-05508900 Sao Paulo, Brazil
- [33] Recurrent and Prolonged Infections in a Child with a Homozygous IFIH1 Nonsense MutationFRONTIERS IN GENETICS, 2017, 8Zaki, Maha论文数: 0 引用数: 0 h-index: 0机构: Natl Res Ctr, Dept Clin Genet, Human Genet & Genome Res Div, Cairo, Egypt Natl Res Ctr, Dept Clin Genet, Human Genet & Genome Res Div, Cairo, EgyptThoenes, Michaela论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Cologne, Inst Human Genet, Cologne, Germany Natl Res Ctr, Dept Clin Genet, Human Genet & Genome Res Div, Cairo, EgyptKawalia, Amit论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, Cologne Ctr Genom, Cologne, Germany Natl Res Ctr, Dept Clin Genet, Human Genet & Genome Res Div, Cairo, EgyptNuernberg, Peter论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, Cologne Ctr Genom, Cologne, Germany Univ Cologne, Cologne Excellence Cluster Cellular Stress Respon, Cologne, Germany Natl Res Ctr, Dept Clin Genet, Human Genet & Genome Res Div, Cairo, EgyptKaiser, Rolf论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Cologne, Inst Virol, Cologne, Germany Natl Res Ctr, Dept Clin Genet, Human Genet & Genome Res Div, Cairo, EgyptHeller, Raoul论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Cologne, Inst Human Genet, Cologne, Germany Natl Res Ctr, Dept Clin Genet, Human Genet & Genome Res Div, Cairo, EgyptBolz, Hanno J.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Cologne, Inst Human Genet, Cologne, Germany Natl Res Ctr, Dept Clin Genet, Human Genet & Genome Res Div, Cairo, Egypt
- [34] HOMOZYGOUS NONSENSE MUTATION IN THE INSULIN-RECEPTOR GENE IN INFANT WITH LEPRECHAUNISMLANCET, 1993, 342 (8866): : 277 - 278KROOK, A论文数: 0 引用数: 0 h-index: 0机构: UNIV CAMBRIDGE,ADDENBROOKES HOSP,DEPT MED,CAMBRIDGE CB2 2QR,ENGLANDBRUETON, L论文数: 0 引用数: 0 h-index: 0机构: UNIV CAMBRIDGE,ADDENBROOKES HOSP,DEPT MED,CAMBRIDGE CB2 2QR,ENGLANDORAHILLY, S论文数: 0 引用数: 0 h-index: 0机构: UNIV CAMBRIDGE,ADDENBROOKES HOSP,DEPT MED,CAMBRIDGE CB2 2QR,ENGLAND
- [35] Permanent neonatal diabetes caused by a homozygous nonsense mutation in the glucokinase genePEDIATRIC DIABETES, 2008, 9 (03) : 245 - 249Rubio-Cabezas, O.论文数: 0 引用数: 0 h-index: 0机构: Hosp Infantil Univ Nino Jesus, Serv Endocrinol, Dept Endocrinol, Madrid 28009, Spain Hosp Infantil Univ Nino Jesus, Serv Endocrinol, Dept Endocrinol, Madrid 28009, SpainGonzalez, F. Diaz论文数: 0 引用数: 0 h-index: 0机构: Hosp Infantil Univ Nino Jesus, Serv Endocrinol, Dept Endocrinol, Madrid 28009, Spain Hosp Infantil Univ Nino Jesus, Serv Endocrinol, Dept Endocrinol, Madrid 28009, SpainAragones, A.论文数: 0 引用数: 0 h-index: 0机构: Hosp Virgen Salud, Dept Paediat, Toledo, Spain Hosp Infantil Univ Nino Jesus, Serv Endocrinol, Dept Endocrinol, Madrid 28009, SpainArgente, J.论文数: 0 引用数: 0 h-index: 0机构: Hosp Infantil Univ Nino Jesus, Serv Endocrinol, Dept Endocrinol, Madrid 28009, Spain Univ Autonoma Madrid, Dept Paediat, Madrid, Spain Inst Salud Carlos III, CIBER Fisiopatol Obesidad & Nutr CB06 03, Madrid, Spain Hosp Infantil Univ Nino Jesus, Serv Endocrinol, Dept Endocrinol, Madrid 28009, SpainCampos-Barros, A.论文数: 0 引用数: 0 h-index: 0机构: Hosp Infantil Univ Nino Jesus, Serv Endocrinol, Dept Endocrinol, Madrid 28009, Spain Hosp Infantil Univ Nino Jesus, Serv Endocrinol, Dept Endocrinol, Madrid 28009, Spain
- [36] Novel splice mutation in CDSN gene causing type b peeling skin syndromeJOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY, 2022, 36 (06) : E456 - E460Navarro-Navarro, I.论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Puerta Mar, Unidad Gest Clin Dermatol Med Quirurg & Venereol, Cadiz, Spain Hosp Univ Puerta Mar, Unidad Gest Clin Dermatol Med Quirurg & Venereol, Cadiz, SpainJimenez-Gallo, D.论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Puerta Mar, Unidad Gest Clin Dermatol Med Quirurg & Venereol, Cadiz, Spain Hosp Univ Puerta Mar, Unidad Gest Clin Dermatol Med Quirurg & Venereol, Cadiz, Spainde la Varga-martinez, R.论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Puerta Mar, Unidad Gest Clin Hematol Inmunol, Serv Inmunol, Cadiz, Spain Hosp Univ Puerta Mar, Unidad Gest Clin Dermatol Med Quirurg & Venereol, Cadiz, SpainVillegas-Romero, I.论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Puerta Mar, Unidad Gest Clin Dermatol Med Quirurg & Venereol, Cadiz, Spain Hosp Univ Puerta Mar, Unidad Gest Clin Dermatol Med Quirurg & Venereol, Cadiz, SpainMora-Lopez, F.论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Puerta Mar, Unidad Gest Clin Hematol Inmunol, Serv Inmunol, Cadiz, Spain Hosp Univ Puerta Mar, Unidad Gest Clin Dermatol Med Quirurg & Venereol, Cadiz, SpainLinares-Barrios, M.论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Puerta Mar, Unidad Gest Clin Dermatol Med Quirurg & Venereol, Cadiz, Spain Hosp Univ Puerta Mar, Unidad Gest Clin Dermatol Med Quirurg & Venereol, Cadiz, Spain论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Uitto, J.论文数: 0 引用数: 0 h-index: 0机构: Thomas Jefferson Univ, Sidney Kimmel Med Coll, Dept Dermatol & Cutaneous Biol, Philadelphia, PA USA Hosp Univ Puerta Mar, Unidad Gest Clin Dermatol Med Quirurg & Venereol, Cadiz, Spain
- [37] A Novel Homozygous Missense Mutation in the YARS Gene: Expanding the Phenotype of YARS Multisystem DiseaseJOURNAL OF THE ENDOCRINE SOCIETY, 2021, 5 (02)Zeiad, Rawah K. H. M.论文数: 0 引用数: 0 h-index: 0机构: Case Western Univ, Div Pediat Endocrinol, Rainbow Babies & Childrens Hosp, Sch Med,Dept Pediat,Univ Hosp,Cleveland Med Ctr, Cleveland, OH 44106 USA Case Western Univ, Div Pediat Endocrinol, Rainbow Babies & Childrens Hosp, Sch Med,Dept Pediat,Univ Hosp,Cleveland Med Ctr, Cleveland, OH 44106 USAFerren, Edwin C.论文数: 0 引用数: 0 h-index: 0机构: Case Western Univ, Rainbow Babies & Childrens Hosp, Dept Genet & Genome Sci, Univ Hosp,Cleveland Med Ctr,Sch Med, Cleveland, OH 44106 USA Case Western Univ, Rainbow Babies & Childrens Hosp, Ctr Human Genet, Univ Hosp,Cleveland Med Ctr,Sch Med, Cleveland, OH 44106 USA Case Western Univ, Div Pediat Endocrinol, Rainbow Babies & Childrens Hosp, Sch Med,Dept Pediat,Univ Hosp,Cleveland Med Ctr, Cleveland, OH 44106 USAYoung, Denise D.论文数: 0 引用数: 0 h-index: 0机构: Case Western Univ, Div Pediat Gastroenterol Hepatol & Nutr, Rainbow Babies & Childrens Hosp, Univ Hosp,Cleveland Med Ctr,Dept Pediat,Sch Med, Cleveland, OH 44106 USA Case Western Univ, Div Pediat Endocrinol, Rainbow Babies & Childrens Hosp, Sch Med,Dept Pediat,Univ Hosp,Cleveland Med Ctr, Cleveland, OH 44106 USADe Lancy, Shanelle J.论文数: 0 引用数: 0 h-index: 0机构: Case Western Univ, Dept Pathol, Sch Med, Cleveland, OH 44106 USA Case Western Univ, Div Pediat Endocrinol, Rainbow Babies & Childrens Hosp, Sch Med,Dept Pediat,Univ Hosp,Cleveland Med Ctr, Cleveland, OH 44106 USADedousis, Demitrios论文数: 0 引用数: 0 h-index: 0机构: Case Western Univ, Rainbow Babies & Childrens Hosp, Dept Genet & Genome Sci, Univ Hosp,Cleveland Med Ctr,Sch Med, Cleveland, OH 44106 USA Case Western Univ, Rainbow Babies & Childrens Hosp, Ctr Human Genet, Univ Hosp,Cleveland Med Ctr,Sch Med, Cleveland, OH 44106 USA Case Western Univ, Div Pediat Endocrinol, Rainbow Babies & Childrens Hosp, Sch Med,Dept Pediat,Univ Hosp,Cleveland Med Ctr, Cleveland, OH 44106 USASchillaci, Lori-Anne论文数: 0 引用数: 0 h-index: 0机构: Case Western Univ, Rainbow Babies & Childrens Hosp, Dept Genet & Genome Sci, Univ Hosp,Cleveland Med Ctr,Sch Med, Cleveland, OH 44106 USA Case Western Univ, Rainbow Babies & Childrens Hosp, Ctr Human Genet, Univ Hosp,Cleveland Med Ctr,Sch Med, Cleveland, OH 44106 USA Case Western Univ, Div Pediat Endocrinol, Rainbow Babies & Childrens Hosp, Sch Med,Dept Pediat,Univ Hosp,Cleveland Med Ctr, Cleveland, OH 44106 USARedline, Raymond W.论文数: 0 引用数: 0 h-index: 0机构: Case Western Univ, Dept Pathol, Sch Med, Cleveland, OH 44106 USA Case Western Univ, Div Pediat Endocrinol, Rainbow Babies & Childrens Hosp, Sch Med,Dept Pediat,Univ Hosp,Cleveland Med Ctr, Cleveland, OH 44106 USASaab, Shahrazad T.论文数: 0 引用数: 0 h-index: 0机构: Case Western Univ, Dept Pathol, Sch Med, Cleveland, OH 44106 USA Case Western Univ, Div Pediat Endocrinol, Rainbow Babies & Childrens Hosp, Sch Med,Dept Pediat,Univ Hosp,Cleveland Med Ctr, Cleveland, OH 44106 USACrespo, Maricruz论文数: 0 引用数: 0 h-index: 0机构: Case Western Univ, Div Pediat Gastroenterol Hepatol & Nutr, Rainbow Babies & Childrens Hosp, Univ Hosp,Cleveland Med Ctr,Dept Pediat,Sch Med, Cleveland, OH 44106 USA Case Western Univ, Div Pediat Endocrinol, Rainbow Babies & Childrens Hosp, Sch Med,Dept Pediat,Univ Hosp,Cleveland Med Ctr, Cleveland, OH 44106 USABhatti, Tricia R.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Childrens Hosp Philadelphia, Dept Pathol & Lab, Perelman Sch Med, Philadelphia, PA 19104 USA Case Western Univ, Div Pediat Endocrinol, Rainbow Babies & Childrens Hosp, Sch Med,Dept Pediat,Univ Hosp,Cleveland Med Ctr, Cleveland, OH 44106 USAAckermann, Amanda M.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Childrens Hosp Philadelphia, Dept Pediat, Div Endocrinol & Diabet,Perelman Sch Med, Philadelphia, PA 19104 USA Case Western Univ, Div Pediat Endocrinol, Rainbow Babies & Childrens Hosp, Sch Med,Dept Pediat,Univ Hosp,Cleveland Med Ctr, Cleveland, OH 44106 USABedoyan, Jirair K.论文数: 0 引用数: 0 h-index: 0机构: Case Western Univ, Rainbow Babies & Childrens Hosp, Dept Genet & Genome Sci, Univ Hosp,Cleveland Med Ctr,Sch Med, Cleveland, OH 44106 USA Case Western Univ, Rainbow Babies & Childrens Hosp, Ctr Human Genet, Univ Hosp,Cleveland Med Ctr,Sch Med, Cleveland, OH 44106 USA Case Western Univ, Div Pediat Endocrinol, Rainbow Babies & Childrens Hosp, Sch Med,Dept Pediat,Univ Hosp,Cleveland Med Ctr, Cleveland, OH 44106 USAWood, Jamie R.论文数: 0 引用数: 0 h-index: 0机构: Case Western Univ, Div Pediat Endocrinol, Rainbow Babies & Childrens Hosp, Sch Med,Dept Pediat,Univ Hosp,Cleveland Med Ctr, Cleveland, OH 44106 USA Case Western Univ, Div Pediat Endocrinol, Rainbow Babies & Childrens Hosp, Sch Med,Dept Pediat,Univ Hosp,Cleveland Med Ctr, Cleveland, OH 44106 USA
- [38] Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and HypotrichosisJOURNAL OF INVESTIGATIVE DERMATOLOGY, 2020, 140 (06) : 1285 - 1288Onoufriadis, Alexandros论文数: 0 引用数: 0 h-index: 0机构: Kings Coll London, St Johns Inst Dermatol, Sch Basic & Med Biosci, London, England Kings Coll London, St Johns Inst Dermatol, Sch Basic & Med Biosci, London, England论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Guy, Alyson论文数: 0 引用数: 0 h-index: 0机构: Guys Hosp, Viapath, London, England Kings Coll London, St Johns Inst Dermatol, Sch Basic & Med Biosci, London, EnglandLiu, Lu论文数: 0 引用数: 0 h-index: 0机构: Guys Hosp, Viapath, London, England Kings Coll London, St Johns Inst Dermatol, Sch Basic & Med Biosci, London, EnglandMarantzidis, Alexros论文数: 0 引用数: 0 h-index: 0机构: Kings Coll London, St Johns Inst Dermatol, Sch Basic & Med Biosci, London, England Kings Coll London, St Johns Inst Dermatol, Sch Basic & Med Biosci, London, England论文数: 引用数: h-index:机构:Papanikolaou, Maria论文数: 0 引用数: 0 h-index: 0机构: Kings Coll London, St Johns Inst Dermatol, Sch Basic & Med Biosci, London, England Kings Coll London, St Johns Inst Dermatol, Sch Basic & Med Biosci, London, EnglandSimpson, Michael A.论文数: 0 引用数: 0 h-index: 0机构: Kings Coll London, Sch Basic & Med Biosci, Dept Med & Mol Genet, London, England Kings Coll London, St Johns Inst Dermatol, Sch Basic & Med Biosci, London, EnglandMellerio, Jemima E.论文数: 0 引用数: 0 h-index: 0机构: Kings Coll London, St Johns Inst Dermatol, Sch Basic & Med Biosci, London, England Kings Coll London, St Johns Inst Dermatol, Sch Basic & Med Biosci, London, EnglandLee, John Y. W.论文数: 0 引用数: 0 h-index: 0机构: Kings Coll London, St Johns Inst Dermatol, Sch Basic & Med Biosci, London, England Kings Coll London, St Johns Inst Dermatol, Sch Basic & Med Biosci, London, EnglandMcGrath, John A.论文数: 0 引用数: 0 h-index: 0机构: Kings Coll London, St Johns Inst Dermatol, Sch Basic & Med Biosci, London, England Kings Coll London, St Johns Inst Dermatol, Sch Basic & Med Biosci, London, England
- [39] Afibrinogenemia resulting from homozygous nonsense mutation in A alpha chain gene associated with multiple thrombotic episodesBLOOD COAGULATION & FIBRINOLYSIS, 2008, 19 (03) : 247 - 253Simsek, Ismail论文数: 0 引用数: 0 h-index: 0机构: Gulhane Miltary Sch Med, Div Rheumatol, Ankara, Turkey Gulhane Miltary Sch Med, Div Rheumatol, Ankara, Turkeyde Mazancourt, Philippe论文数: 0 引用数: 0 h-index: 0机构: Hosp Poincare, Biochem & Mol Biol Lab, Garches, France Gulhane Miltary Sch Med, Div Rheumatol, Ankara, TurkeyHorellou, Marie-Helene论文数: 0 引用数: 0 h-index: 0机构: Hop Hotel Dieu, Dept Hematol Biol, Paris, France Gulhane Miltary Sch Med, Div Rheumatol, Ankara, TurkeyErdem, Hakan论文数: 0 引用数: 0 h-index: 0机构: Gulhane Miltary Sch Med, Div Rheumatol, Ankara, Turkey Gulhane Miltary Sch Med, Div Rheumatol, Ankara, TurkeyPay, Salih论文数: 0 引用数: 0 h-index: 0机构: Gulhane Miltary Sch Med, Div Rheumatol, Ankara, Turkey Gulhane Miltary Sch Med, Div Rheumatol, Ankara, TurkeyDinc, Ayhan论文数: 0 引用数: 0 h-index: 0机构: Gulhane Miltary Sch Med, Div Rheumatol, Ankara, Turkey Gulhane Miltary Sch Med, Div Rheumatol, Ankara, TurkeySamama, Meyer Michel论文数: 0 引用数: 0 h-index: 0机构: Hop Hotel Dieu, Dept Hematol Biol, Paris, France Gulhane Miltary Sch Med, Div Rheumatol, Ankara, Turkey
- [40] Immunodeficiency and disseminated mycobacterial infection associated with homozygous nonsense mutation of IKKβJOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2014, 134 (01) : 215 - 218Burns, Siobhan O.论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Immun & Transplantat, London, England Royal Free London NHS Fdn Trust, Dept Immunol, London, England Great Ormond St Hosp Children NHS Fdn Trust, London, England UCL, Inst Immun & Transplantat, London, EnglandPlagnol, Vincent论文数: 0 引用数: 0 h-index: 0机构: UCL, UCL Genet Inst, London, England UCL, Inst Immun & Transplantat, London, EnglandGutierrez, Beatriz Morillo论文数: 0 引用数: 0 h-index: 0机构: Great Ormond St Hosp Children NHS Fdn Trust, London, England UCL, Inst Immun & Transplantat, London, EnglandAl Zahrani, Daifulah论文数: 0 引用数: 0 h-index: 0机构: King Abdul Aziz Med City, Dept Pediat, Jeddah, Saudi Arabia UCL, Inst Immun & Transplantat, London, EnglandCurtis, James论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Dept Med, Cambridge CB2 2QQ, England UCL, Inst Immun & Transplantat, London, EnglandGaspar, Miguel论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Immun & Transplantat, London, EnglandHassan, Amel论文数: 0 引用数: 0 h-index: 0机构: Great Ormond St Hosp Children NHS Fdn Trust, London, England UCL, Inst Immun & Transplantat, London, EnglandJones, Alison M.论文数: 0 引用数: 0 h-index: 0机构: Great Ormond St Hosp Children NHS Fdn Trust, London, England UCL, Inst Immun & Transplantat, London, EnglandMalone, Marian论文数: 0 引用数: 0 h-index: 0机构: Great Ormond St Hosp Children NHS Fdn Trust, London, England UCL, Inst Immun & Transplantat, London, EnglandRampling, Dyanne论文数: 0 引用数: 0 h-index: 0机构: Great Ormond St Hosp Children NHS Fdn Trust, London, England UCL, Inst Immun & Transplantat, London, EnglandMcLatchie, Alex论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Immun & Transplantat, London, England Royal Free London NHS Fdn Trust, Dept Immunol, London, England UCL, Inst Immun & Transplantat, London, EnglandDoffinger, Rainer论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Dept Med, Cambridge CB2 2QQ, England UCL, Inst Immun & Transplantat, London, EnglandGilmour, Kimberly C.论文数: 0 引用数: 0 h-index: 0机构: Great Ormond St Hosp Children NHS Fdn Trust, London, England UCL, Inst Immun & Transplantat, London, EnglandHenriquez, Frances论文数: 0 引用数: 0 h-index: 0机构: Great Ormond St Hosp Children NHS Fdn Trust, London, England UCL, Mol Immunol Unit, Inst Child Hlth, London, England UCL, Inst Immun & Transplantat, London, EnglandThrasher, Adrian J.论文数: 0 引用数: 0 h-index: 0机构: Great Ormond St Hosp Children NHS Fdn Trust, London, England UCL, Mol Immunol Unit, Inst Child Hlth, London, England UCL, Inst Immun & Transplantat, London, EnglandGaspar, H. Bobby论文数: 0 引用数: 0 h-index: 0机构: Great Ormond St Hosp Children NHS Fdn Trust, London, England UCL, Mol Immunol Unit, Inst Child Hlth, London, England UCL, Inst Immun & Transplantat, London, EnglandNejentsev, Sergey论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Dept Med, Cambridge CB2 2QQ, England UCL, Inst Immun & Transplantat, London, England