共 50 条
- [1] A Novel RAB27A Mutation in a Patient With Griscelli Syndrome Type 2JOURNAL OF INVESTIGATIONAL ALLERGOLOGY AND CLINICAL IMMUNOLOGY, 2010, 20 (07) : 612 - 615Shamsian, B. S.论文数: 0 引用数: 0 h-index: 0机构: Shahid Beheshti Med Univ, Dept Pediat Hematol Oncol, Mofid Children Hosp, Tehran, Iran Shahid Beheshti Med Univ, Dept Pediat Hematol Oncol, Mofid Children Hosp, Tehran, IranNorbakhsh, K.论文数: 0 引用数: 0 h-index: 0机构: Shahid Beheshti Med Univ, Dept Pediat Hematol Oncol, Mofid Children Hosp, Tehran, Iran Shahid Beheshti Med Univ, Dept Pediat Hematol Oncol, Mofid Children Hosp, Tehran, IranRezaei, N.论文数: 0 引用数: 0 h-index: 0机构: Univ Tehran Med Sci, Mol Immunol Res Ctr, Tehran, Iran Univ Tehran Med Sci, Dept Immunol, Sch Med, Tehran, Iran Univ Tehran Med Sci, Res Ctr Immunodeficiencies, Pediat Ctr Excellence, Childrens Med Ctr, Tehran, Iran Shahid Beheshti Med Univ, Dept Pediat Hematol Oncol, Mofid Children Hosp, Tehran, IranSafari, A.论文数: 0 引用数: 0 h-index: 0机构: Shahid Beheshti Med Univ, Dept Pediat Hematol Oncol, Mofid Children Hosp, Tehran, Iran Shahid Beheshti Med Univ, Dept Pediat Hematol Oncol, Mofid Children Hosp, Tehran, IranGharib, A.论文数: 0 引用数: 0 h-index: 0机构: Shahid Beheshti Med Univ, Dept Pathol, Mofid Children Hosp, Tehran, Iran Shahid Beheshti Med Univ, Dept Pediat Hematol Oncol, Mofid Children Hosp, Tehran, IranPourpak, Z.论文数: 0 引用数: 0 h-index: 0机构: Univ Tehran Med Sci, Immunol Asthma & Allergy Res Inst, Tehran, Iran Shahid Beheshti Med Univ, Dept Pediat Hematol Oncol, Mofid Children Hosp, Tehran, IranAlavi, S.论文数: 0 引用数: 0 h-index: 0机构: Shahid Beheshti Med Univ, Dept Pediat Hematol Oncol, Mofid Children Hosp, Tehran, Iran Shahid Beheshti Med Univ, Dept Pediat Hematol Oncol, Mofid Children Hosp, Tehran, IranParvaneh, N.论文数: 0 引用数: 0 h-index: 0机构: Univ Tehran Med Sci, Mol Immunol Res Ctr, Tehran, Iran Univ Tehran Med Sci, Dept Immunol, Sch Med, Tehran, Iran Shahid Beheshti Med Univ, Dept Pediat Hematol Oncol, Mofid Children Hosp, Tehran, IranArzanian, M. T.论文数: 0 引用数: 0 h-index: 0机构: Shahid Beheshti Med Univ, Dept Pediat Hematol Oncol, Mofid Children Hosp, Tehran, Iran Shahid Beheshti Med Univ, Dept Pediat Hematol Oncol, Mofid Children Hosp, Tehran, Iran
- [2] Clinical Presentation of Griscelli Syndrome Type 2 and Spectrum of RAB27A MutationsPEDIATRIC BLOOD & CANCER, 2010, 54 (04) : 563 - 572Meeths, Marie论文数: 0 引用数: 0 h-index: 0机构: Karolinska Univ Hosp Solna, Karolinska Inst, Dept Woman & Child Hlth, Childhood Canc Res Unit, Stockholm, Sweden Karolinska Univ Hosp Solna, Karolinska Inst, Ctr Mol Med, Dept Mol Med & Surg,Clin Genet Unit, Stockholm, Sweden Karolinska Univ Hosp Solna, Karolinska Inst, Dept Woman & Child Hlth, Childhood Canc Res Unit, Stockholm, SwedenBryceson, Yenan T.论文数: 0 引用数: 0 h-index: 0机构: Karolinska Univ Hosp Huddinge, Karolinska Inst, Ctr Infect Med, Dept Med, Stockholm, Sweden Karolinska Univ Hosp Solna, Karolinska Inst, Dept Woman & Child Hlth, Childhood Canc Res Unit, Stockholm, SwedenRudd, Eva论文数: 0 引用数: 0 h-index: 0机构: Karolinska Univ Hosp Solna, Karolinska Inst, Dept Woman & Child Hlth, Childhood Canc Res Unit, Stockholm, Sweden Karolinska Univ Hosp Solna, Karolinska Inst, Ctr Mol Med, Dept Mol Med & Surg,Clin Genet Unit, Stockholm, Sweden Karolinska Univ Hosp Solna, Karolinska Inst, Dept Woman & Child Hlth, Childhood Canc Res Unit, Stockholm, SwedenZheng, Chengyun论文数: 0 引用数: 0 h-index: 0机构: Karolinska Univ Hosp Solna, Karolinska Inst, Dept Woman & Child Hlth, Childhood Canc Res Unit, Stockholm, Sweden Karolinska Univ Hosp Solna, Karolinska Inst, Ctr Mol Med, Dept Mol Med & Surg,Clin Genet Unit, Stockholm, Sweden Karolinska Univ Hosp Solna, Karolinska Inst, Dept Woman & Child Hlth, Childhood Canc Res Unit, Stockholm, SwedenWood, Stephanie M.论文数: 0 引用数: 0 h-index: 0机构: Karolinska Univ Hosp Huddinge, Karolinska Inst, Ctr Infect Med, Dept Med, Stockholm, Sweden Univ Queensland, Inst Mol Biosci, Brisbane, Qld, Australia Karolinska Univ Hosp Solna, Karolinska Inst, Dept Woman & Child Hlth, Childhood Canc Res Unit, Stockholm, SwedenRamme, Kim论文数: 0 引用数: 0 h-index: 0机构: Karolinska Univ Hosp Solna, Karolinska Inst, Dept Woman & Child Hlth, Childhood Canc Res Unit, Stockholm, Sweden Karolinska Univ Hosp Solna, Karolinska Inst, Ctr Mol Med, Dept Mol Med & Surg,Clin Genet Unit, Stockholm, Sweden Karolinska Univ Hosp Solna, Karolinska Inst, Dept Woman & Child Hlth, Childhood Canc Res Unit, Stockholm, SwedenBeutel, Karin论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Hamburg, Germany Karolinska Univ Hosp Solna, Karolinska Inst, Dept Woman & Child Hlth, Childhood Canc Res Unit, Stockholm, SwedenHasle, Henrik论文数: 0 引用数: 0 h-index: 0机构: Aarhus Univ Hosp Skejby, Dept Paediat, Aarhus, Denmark Karolinska Univ Hosp Solna, Karolinska Inst, Dept Woman & Child Hlth, Childhood Canc Res Unit, Stockholm, SwedenHeilmann, Carsten论文数: 0 引用数: 0 h-index: 0机构: Univ Copenhagen Hosp, Sect 4064, Paediat Clin 2, DK-2100 Copenhagen, Denmark Karolinska Univ Hosp Solna, Karolinska Inst, Dept Woman & Child Hlth, Childhood Canc Res Unit, Stockholm, SwedenHultenby, Kjell论文数: 0 引用数: 0 h-index: 0机构: Karolinska Univ Hosp Huddinge, Karolinska Inst, Clin Res Ctr, Dept Lab Med, Stockholm, Sweden Karolinska Univ Hosp Solna, Karolinska Inst, Dept Woman & Child Hlth, Childhood Canc Res Unit, Stockholm, SwedenLjunggren, Hans-Gustaf论文数: 0 引用数: 0 h-index: 0机构: Karolinska Univ Hosp Huddinge, Karolinska Inst, Ctr Infect Med, Dept Med, Stockholm, Sweden Karolinska Univ Hosp Solna, Karolinska Inst, Dept Woman & Child Hlth, Childhood Canc Res Unit, Stockholm, SwedenFadeel, Bengt论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Inst Environm Med, Div Mol Toxicol, S-10401 Stockholm, Sweden Karolinska Univ Hosp Solna, Karolinska Inst, Dept Woman & Child Hlth, Childhood Canc Res Unit, Stockholm, SwedenNordenskjold, Magnus论文数: 0 引用数: 0 h-index: 0机构: Karolinska Univ Hosp Solna, Karolinska Inst, Ctr Mol Med, Dept Mol Med & Surg,Clin Genet Unit, Stockholm, Sweden Karolinska Univ Hosp Solna, Karolinska Inst, Dept Woman & Child Hlth, Childhood Canc Res Unit, Stockholm, SwedenHenter, Jan-Inge论文数: 0 引用数: 0 h-index: 0机构: Karolinska Univ Hosp Solna, Karolinska Inst, Dept Woman & Child Hlth, Childhood Canc Res Unit, Stockholm, Sweden Karolinska Univ Hosp Solna, Karolinska Inst, Dept Woman & Child Hlth, Childhood Canc Res Unit, Stockholm, Sweden
- [3] A novel missense mutation (G43S) in the switch I region of Rab27A causing Griscelli syndromeMOLECULAR GENETICS AND METABOLISM, 2008, 94 (02) : 248 - 254Westbroek, Wendy论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Sect Human Biochem Genet, Med Genet Branch, Bethesda, MD 20892 USA NHGRI, Sect Human Biochem Genet, Med Genet Branch, Bethesda, MD 20892 USATuchman, Maya论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Sect Human Biochem Genet, Med Genet Branch, Bethesda, MD 20892 USA NHGRI, Sect Human Biochem Genet, Med Genet Branch, Bethesda, MD 20892 USATinloy, Bradford论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Sect Human Biochem Genet, Med Genet Branch, Bethesda, MD 20892 USA NHGRI, Sect Human Biochem Genet, Med Genet Branch, Bethesda, MD 20892 USADe Wever, Olivier论文数: 0 引用数: 0 h-index: 0机构: Ghent Univ Hosp, Lab Expt Canc Res, Ghent, Belgium NHGRI, Sect Human Biochem Genet, Med Genet Branch, Bethesda, MD 20892 USAVilboux, Thierry论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Sect Human Biochem Genet, Med Genet Branch, Bethesda, MD 20892 USA NHGRI, Sect Human Biochem Genet, Med Genet Branch, Bethesda, MD 20892 USAHertz, Jens M.论文数: 0 引用数: 0 h-index: 0机构: Aarhus Univ Hosp, Dept Clin Genet, DK-8000 Aarhus, Denmark NHGRI, Sect Human Biochem Genet, Med Genet Branch, Bethesda, MD 20892 USAHasle, Henrik论文数: 0 引用数: 0 h-index: 0机构: Aarhus Univ Hosp, Dept Pediat, DK-8000 Aarhus, Denmark NHGRI, Sect Human Biochem Genet, Med Genet Branch, Bethesda, MD 20892 USAHeilmann, Carsten论文数: 0 引用数: 0 h-index: 0机构: Rigshosp, Pediat Clin 2, DK-2100 Copenhagen, Denmark NHGRI, Sect Human Biochem Genet, Med Genet Branch, Bethesda, MD 20892 USAHelip-Wooley, Amanda论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Sect Human Biochem Genet, Med Genet Branch, Bethesda, MD 20892 USA NHGRI, Sect Human Biochem Genet, Med Genet Branch, Bethesda, MD 20892 USAKleta, Robert论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Sect Human Biochem Genet, Med Genet Branch, Bethesda, MD 20892 USA NHGRI, Sect Human Biochem Genet, Med Genet Branch, Bethesda, MD 20892 USAGahl, William A.论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Sect Human Biochem Genet, Med Genet Branch, Bethesda, MD 20892 USA NHGRI, Sect Human Biochem Genet, Med Genet Branch, Bethesda, MD 20892 USA
- [4] Griscelli syndrome:: Characterization of a new mutation and rescue of T-cytotoxic activity by retroviral transfer of RAB27A geneJOURNAL OF CLINICAL IMMUNOLOGY, 2004, 24 (04) : 397 - 410Bizario, JCS论文数: 0 引用数: 0 h-index: 0机构: Dept Biol Celular, Sao Paulo, BrazilFeldmann, J论文数: 0 引用数: 0 h-index: 0机构: Dept Biol Celular, Sao Paulo, BrazilCastro, FA论文数: 0 引用数: 0 h-index: 0机构: Dept Biol Celular, Sao Paulo, BrazilMénasché, G论文数: 0 引用数: 0 h-index: 0机构: Dept Biol Celular, Sao Paulo, BrazilJacob, CMA论文数: 0 引用数: 0 h-index: 0机构: Dept Biol Celular, Sao Paulo, BrazilCristofani, L论文数: 0 引用数: 0 h-index: 0机构: Dept Biol Celular, Sao Paulo, BrazilCasella, EB论文数: 0 引用数: 0 h-index: 0机构: Dept Biol Celular, Sao Paulo, BrazilVoltarelli, JC论文数: 0 引用数: 0 h-index: 0机构: Dept Biol Celular, Sao Paulo, BrazilDe Saint-Basile, G论文数: 0 引用数: 0 h-index: 0机构: Dept Biol Celular, Sao Paulo, BrazilEspreafico, EM论文数: 0 引用数: 0 h-index: 0机构: Dept Biol Celular, Sao Paulo, Brazil
- [5] Griscelli Syndrome: Characterization of a New Mutation and Rescue of T-Cytotoxic Activity by Retroviral Transfer of RAB27A GeneJournal of Clinical Immunology, 2004, 24 : 397 - 410João C. S. Bizario论文数: 0 引用数: 0 h-index: 0机构: Molecular e Bioagentes Patogênicos,Departamentos de Biologia CelularJérôme Feldmann论文数: 0 引用数: 0 h-index: 0机构: Molecular e Bioagentes Patogênicos,Departamentos de Biologia CelularFabíola A. Castro论文数: 0 引用数: 0 h-index: 0机构: Molecular e Bioagentes Patogênicos,Departamentos de Biologia CelularGaël Ménasché论文数: 0 引用数: 0 h-index: 0机构: Molecular e Bioagentes Patogênicos,Departamentos de Biologia CelularCristina M. A. Jacob论文数: 0 引用数: 0 h-index: 0机构: Molecular e Bioagentes Patogênicos,Departamentos de Biologia CelularL. Cristofani论文数: 0 引用数: 0 h-index: 0机构: Molecular e Bioagentes Patogênicos,Departamentos de Biologia CelularErasmo B. Casella论文数: 0 引用数: 0 h-index: 0机构: Molecular e Bioagentes Patogênicos,Departamentos de Biologia CelularJúlio C. Voltarelli论文数: 0 引用数: 0 h-index: 0机构: Molecular e Bioagentes Patogênicos,Departamentos de Biologia CelularGeneviève de Saint-Basile论文数: 0 引用数: 0 h-index: 0机构: Molecular e Bioagentes Patogênicos,Departamentos de Biologia CelularEnilza M. Espreafico论文数: 0 引用数: 0 h-index: 0机构: Molecular e Bioagentes Patogênicos,Departamentos de Biologia Celular
- [6] Functional characterization of two RAB27A missense mutations found in Griscelli syndrome type 2PIGMENT CELL & MELANOMA RESEARCH, 2010, 23 (03) : 365 - 374Ohbayashi, Norihiko论文数: 0 引用数: 0 h-index: 0机构: Tohoku Univ, Grad Sch Life Sci, Dept Dev Biol & Neurosci, Lab Membrane Trafficking Mech,Aoba Ku, Sendai, Miyagi 9808578, Japan Tohoku Univ, Grad Sch Life Sci, Dept Dev Biol & Neurosci, Lab Membrane Trafficking Mech,Aoba Ku, Sendai, Miyagi 9808578, JapanMamishi, Setareh论文数: 0 引用数: 0 h-index: 0机构: Univ Tehran Med Sci, Infect Dis Res Ctr, Dept Pediat, Tehran, Iran Univ Tehran Med Sci, Dept Dermatol, Razi Hosp, Tehran, Iran Tohoku Univ, Grad Sch Life Sci, Dept Dev Biol & Neurosci, Lab Membrane Trafficking Mech,Aoba Ku, Sendai, Miyagi 9808578, JapanIshibashi, Koutaro论文数: 0 引用数: 0 h-index: 0机构: Tohoku Univ, Grad Sch Life Sci, Dept Dev Biol & Neurosci, Lab Membrane Trafficking Mech,Aoba Ku, Sendai, Miyagi 9808578, Japan Tohoku Univ, Grad Sch Life Sci, Dept Dev Biol & Neurosci, Lab Membrane Trafficking Mech,Aoba Ku, Sendai, Miyagi 9808578, JapanMaruta, Yuto论文数: 0 引用数: 0 h-index: 0机构: Tohoku Univ, Grad Sch Life Sci, Dept Dev Biol & Neurosci, Lab Membrane Trafficking Mech,Aoba Ku, Sendai, Miyagi 9808578, Japan Tohoku Univ, Grad Sch Life Sci, Dept Dev Biol & Neurosci, Lab Membrane Trafficking Mech,Aoba Ku, Sendai, Miyagi 9808578, JapanPourakbari, Babak论文数: 0 引用数: 0 h-index: 0机构: Univ Tehran Med Sci, Infect Dis Res Ctr, Dept Pediat, Tehran, Iran Tohoku Univ, Grad Sch Life Sci, Dept Dev Biol & Neurosci, Lab Membrane Trafficking Mech,Aoba Ku, Sendai, Miyagi 9808578, JapanTamizifar, Banafshe论文数: 0 引用数: 0 h-index: 0机构: Univ Tehran Med Sci, Childrens Med Ctr, Pediat Ctr Excellence, Tehran, Iran Tohoku Univ, Grad Sch Life Sci, Dept Dev Biol & Neurosci, Lab Membrane Trafficking Mech,Aoba Ku, Sendai, Miyagi 9808578, JapanMohammadpour, Masoud论文数: 0 引用数: 0 h-index: 0机构: Univ Tehran Med Sci, Infect Dis Res Ctr, Dept Pediat, Tehran, Iran Univ Tehran Med Sci, Childrens Med Ctr, Pediat Ctr Excellence, Tehran, Iran Tohoku Univ, Grad Sch Life Sci, Dept Dev Biol & Neurosci, Lab Membrane Trafficking Mech,Aoba Ku, Sendai, Miyagi 9808578, JapanFukuda, Mitsunori论文数: 0 引用数: 0 h-index: 0机构: Tohoku Univ, Grad Sch Life Sci, Dept Dev Biol & Neurosci, Lab Membrane Trafficking Mech,Aoba Ku, Sendai, Miyagi 9808578, Japan Tohoku Univ, Grad Sch Life Sci, Dept Dev Biol & Neurosci, Lab Membrane Trafficking Mech,Aoba Ku, Sendai, Miyagi 9808578, JapanParvaneh, Nima论文数: 0 引用数: 0 h-index: 0机构: Univ Tehran Med Sci, Infect Dis Res Ctr, Dept Pediat, Tehran, Iran Univ Tehran Med Sci, Childrens Med Ctr, Pediat Ctr Excellence, Tehran, Iran Tohoku Univ, Grad Sch Life Sci, Dept Dev Biol & Neurosci, Lab Membrane Trafficking Mech,Aoba Ku, Sendai, Miyagi 9808578, Japan
- [7] Analysis of RAB27A gene in griscelli syndrome type 2:: Novel mutations including a deletion hotspotJOURNAL OF CLINICAL IMMUNOLOGY, 2008, 28 (04) : 384 - 389Mamishi, Setareh论文数: 0 引用数: 0 h-index: 0机构: Childrens Med Ctr, Infect Dis Res Ctr, Tehran 14194, Iran Childrens Med Ctr, Dept Pediat, Tehran 14194, Iran Childrens Med Ctr, Infect Dis Res Ctr, Tehran 14194, IranModarressi, Mohammad Hossein论文数: 0 引用数: 0 h-index: 0机构: Univ Tehran, Dept Med Genet, Tehran, Iran Childrens Med Ctr, Infect Dis Res Ctr, Tehran 14194, IranPourakbari, Babak论文数: 0 引用数: 0 h-index: 0机构: Childrens Med Ctr, Infect Dis Res Ctr, Tehran 14194, Iran Childrens Med Ctr, Infect Dis Res Ctr, Tehran 14194, IranTamizifar, Banafshe论文数: 0 引用数: 0 h-index: 0机构: Razi Hosp, Dept Dermatol, Tehran, Iran Childrens Med Ctr, Infect Dis Res Ctr, Tehran 14194, IranMahjoub, Fatemeh论文数: 0 引用数: 0 h-index: 0机构: Childrens Med Ctr, Dept Pathol, Tehran 14194, Iran Childrens Med Ctr, Infect Dis Res Ctr, Tehran 14194, IranFahimzad, Alireza论文数: 0 引用数: 0 h-index: 0机构: Mofid Childrens Hosp, Pediat Infect Dis Res Ctr, Tehran, Iran Shaheed Beheshti Univ Med Sci, Tehran, Iran Childrens Med Ctr, Infect Dis Res Ctr, Tehran 14194, IranAlyasin, Soheila论文数: 0 引用数: 0 h-index: 0机构: Nemazee Hosp, Dept Pediat, Shiraz, Iran Shiraz Univ Med Sci, Shiraz, Iran Childrens Med Ctr, Infect Dis Res Ctr, Tehran 14194, IranBemanian, Mohamad Hassan论文数: 0 引用数: 0 h-index: 0机构: Shahid Sadoughi Hosp, Dept Pediat, Yazd, Iran Shahid Sadoughi Univ Med Sci, Sch Med, Yazd, Iran Childrens Med Ctr, Infect Dis Res Ctr, Tehran 14194, IranHamidiyeh, Amir Ali论文数: 0 引用数: 0 h-index: 0机构: Shariati Hosp, Hematol Oncol & HSCT Res Ctr, Tehran, Iran Childrens Med Ctr, Infect Dis Res Ctr, Tehran 14194, IranFazlollahi, Mohammad Reza论文数: 0 引用数: 0 h-index: 0机构: Childrens Med Ctr, Dept Pediat, Tehran 14194, Iran Childrens Med Ctr, Infect Dis Res Ctr, Tehran 14194, IranAshrafi, Mahmoud Reza论文数: 0 引用数: 0 h-index: 0机构: Childrens Med Ctr, Dept Pediat, Tehran 14194, Iran Childrens Med Ctr, Infect Dis Res Ctr, Tehran 14194, IranIsaeian, Anna论文数: 0 引用数: 0 h-index: 0机构: Childrens Med Ctr, Dept Pediat, Tehran 14194, Iran Childrens Med Ctr, Infect Dis Res Ctr, Tehran 14194, IranKhotaei, Ghamartaj论文数: 0 引用数: 0 h-index: 0机构: Childrens Med Ctr, Dept Pediat, Tehran 14194, Iran Childrens Med Ctr, Infect Dis Res Ctr, Tehran 14194, IranYeganeh, Mehdi论文数: 0 引用数: 0 h-index: 0机构: Childrens Med Ctr, Infect Dis Res Ctr, Tehran 14194, Iran Childrens Med Ctr, Infect Dis Res Ctr, Tehran 14194, IranParvaneh, Nima论文数: 0 引用数: 0 h-index: 0机构: Childrens Med Ctr, Infect Dis Res Ctr, Tehran 14194, Iran Childrens Med Ctr, Dept Pediat, Tehran 14194, Iran Childrens Med Ctr, Infect Dis Res Ctr, Tehran 14194, Iran
- [8] Novel 47.5-kb deletion in RAB27A results in severe Griscelli Syndrome Type 2MOLECULAR GENETICS AND METABOLISM, 2010, 101 (01) : 62 - 65Vincent, Lisa M.论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Sect Human Biochem Genet, Med Genet Branch, NIH, Bethesda, MD 20892 USA NHGRI, Sect Human Biochem Genet, Med Genet Branch, NIH, Bethesda, MD 20892 USAGilbert, Fred论文数: 0 引用数: 0 h-index: 0机构: Weill Cornell Med Coll, Div Human Genet, Dept Pediat, New York, NY 10021 USA New York Presbyterian Weill Cornell Med Ctr, New York, NY 10021 USA NHGRI, Sect Human Biochem Genet, Med Genet Branch, NIH, Bethesda, MD 20892 USADiPace, Jennifer I.论文数: 0 引用数: 0 h-index: 0机构: New York Presbyterian Weill Cornell Med Ctr, New York, NY 10021 USA Weill Cornell Med Coll, Dept Pediat, Div Hematol Oncol, New York, NY 10021 USA NHGRI, Sect Human Biochem Genet, Med Genet Branch, NIH, Bethesda, MD 20892 USACiccone, Carla论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Sect Human Biochem Genet, Med Genet Branch, NIH, Bethesda, MD 20892 USA NHGRI, Sect Human Biochem Genet, Med Genet Branch, NIH, Bethesda, MD 20892 USAMarkello, Thomas C.论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Sect Human Biochem Genet, Med Genet Branch, NIH, Bethesda, MD 20892 USA NHGRI, Sect Human Biochem Genet, Med Genet Branch, NIH, Bethesda, MD 20892 USAJeong, Andrew论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Sect Human Biochem Genet, Med Genet Branch, NIH, Bethesda, MD 20892 USA NHGRI, Sect Human Biochem Genet, Med Genet Branch, NIH, Bethesda, MD 20892 USADorward, Heidi论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Sect Human Biochem Genet, Med Genet Branch, NIH, Bethesda, MD 20892 USA NHGRI, Sect Human Biochem Genet, Med Genet Branch, NIH, Bethesda, MD 20892 USAWestbroek, Wendy论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Sect Human Biochem Genet, Med Genet Branch, NIH, Bethesda, MD 20892 USA NHGRI, Sect Human Biochem Genet, Med Genet Branch, NIH, Bethesda, MD 20892 USAGahl, William A.论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Sect Human Biochem Genet, Med Genet Branch, NIH, Bethesda, MD 20892 USA NIH, Intramural Off Rare Dis, Off Director, Bethesda, MD 20892 USA NHGRI, Sect Human Biochem Genet, Med Genet Branch, NIH, Bethesda, MD 20892 USABussel, James B.论文数: 0 引用数: 0 h-index: 0机构: New York Presbyterian Weill Cornell Med Ctr, New York, NY 10021 USA Weill Cornell Med Coll, Dept Pediat, Div Hematol Oncol, New York, NY 10021 USA NHGRI, Sect Human Biochem Genet, Med Genet Branch, NIH, Bethesda, MD 20892 USAHuizing, Marjan论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Sect Human Biochem Genet, Med Genet Branch, NIH, Bethesda, MD 20892 USA NHGRI, Sect Human Biochem Genet, Med Genet Branch, NIH, Bethesda, MD 20892 USA
- [9] Analysis of RAB27A Gene in Griscelli Syndrome type 2: Novel Mutations Including a Deletion HotspotJournal of Clinical Immunology, 2008, 28 : 384 - 389Setareh Mamishi论文数: 0 引用数: 0 h-index: 0机构: Children’s Medical Center,Infectious Disease Research CenterMohammad Hossein Modarressi论文数: 0 引用数: 0 h-index: 0机构: Children’s Medical Center,Infectious Disease Research CenterBabak Pourakbari论文数: 0 引用数: 0 h-index: 0机构: Children’s Medical Center,Infectious Disease Research CenterBanafshe Tamizifar论文数: 0 引用数: 0 h-index: 0机构: Children’s Medical Center,Infectious Disease Research CenterFatemeh Mahjoub论文数: 0 引用数: 0 h-index: 0机构: Children’s Medical Center,Infectious Disease Research CenterAlireza Fahimzad论文数: 0 引用数: 0 h-index: 0机构: Children’s Medical Center,Infectious Disease Research CenterSoheila Alyasin论文数: 0 引用数: 0 h-index: 0机构: Children’s Medical Center,Infectious Disease Research CenterMohamad Hassan Bemanian论文数: 0 引用数: 0 h-index: 0机构: Children’s Medical Center,Infectious Disease Research CenterAmir Ali Hamidiyeh论文数: 0 引用数: 0 h-index: 0机构: Children’s Medical Center,Infectious Disease Research CenterMohammad Reza Fazlollahi论文数: 0 引用数: 0 h-index: 0机构: Children’s Medical Center,Infectious Disease Research CenterMahmoud Reza Ashrafi论文数: 0 引用数: 0 h-index: 0机构: Children’s Medical Center,Infectious Disease Research CenterAnna Isaeian论文数: 0 引用数: 0 h-index: 0机构: Children’s Medical Center,Infectious Disease Research CenterGhamartaj Khotaei论文数: 0 引用数: 0 h-index: 0机构: Children’s Medical Center,Infectious Disease Research CenterMehdi Yeganeh论文数: 0 引用数: 0 h-index: 0机构: Children’s Medical Center,Infectious Disease Research Center论文数: 引用数: h-index:机构:
- [10] Griscelli syndrome-type 2 in twin siblings: case report and update on RAB27A human mutations and gene structureBRAZILIAN JOURNAL OF MEDICAL AND BIOLOGICAL RESEARCH, 2008, 41 (10) : 839 - 848Meschede, I. P.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, FMRP, Dept Biol Celular & Mol & Bioagentes Patogen, BR-14049900 Ribeirao Preto, SP, Brazil Univ Sao Paulo, FMRP, Dept Biol Celular & Mol & Bioagentes Patogen, BR-14049900 Ribeirao Preto, SP, BrazilSantos, T. O.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, FMRP, Dept Biol Celular & Mol & Bioagentes Patogen, BR-14049900 Ribeirao Preto, SP, Brazil Univ Sao Paulo, FMRP, Dept Biol Celular & Mol & Bioagentes Patogen, BR-14049900 Ribeirao Preto, SP, BrazilIzidoro-Toledo, T. C.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, FMRP, Dept Biol Celular & Mol & Bioagentes Patogen, BR-14049900 Ribeirao Preto, SP, Brazil Univ Sao Paulo, FMRP, Dept Biol Celular & Mol & Bioagentes Patogen, BR-14049900 Ribeirao Preto, SP, BrazilGurgel-Gianetti, J.论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Minas Gerais, Dept Pediat, Belo Horizonte, MG, Brazil Univ Sao Paulo, FMRP, Dept Biol Celular & Mol & Bioagentes Patogen, BR-14049900 Ribeirao Preto, SP, BrazilEspreafico, E. M.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, FMRP, Dept Biol Celular & Mol & Bioagentes Patogen, BR-14049900 Ribeirao Preto, SP, Brazil Univ Sao Paulo, FMRP, Dept Biol Celular & Mol & Bioagentes Patogen, BR-14049900 Ribeirao Preto, SP, Brazil