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- [22] Is Neurofibromatosis Type 1-Noonan Syndrome a Phenotypic Result of Combined Genetic and Epigenetic Factors?IN VIVO, 2016, 30 (03): : 315 - 320Yapijakis, Christos论文数: 0 引用数: 0 h-index: 0机构: Univ Athens, Eginit Hosp, Sch Med, Dept Neurol, GR-11528 Athens, Greece Univ Athens, Eginit Hosp, Sch Med, Dept Neurol, GR-11528 Athens, GreecePachis, Nikos论文数: 0 引用数: 0 h-index: 0机构: Univ Athens, Eginit Hosp, Sch Med, Dept Neurol, GR-11528 Athens, Greece Univ Athens, Eginit Hosp, Sch Med, Dept Neurol, GR-11528 Athens, GreeceNatsis, Stavros论文数: 0 引用数: 0 h-index: 0机构: Univ Athens, Eginit Hosp, Sch Med, Dept Neurol, GR-11528 Athens, Greece Univ Athens, Eginit Hosp, Sch Med, Dept Neurol, GR-11528 Athens, GreeceVoumvourakis, Costas论文数: 0 引用数: 0 h-index: 0机构: Univ Athens, Eginit Hosp, Sch Med, Dept Neurol, GR-11528 Athens, Greece Univ Athens, Eginit Hosp, Sch Med, Dept Neurol, GR-11528 Athens, Greece
- [23] Molecular genetics of neurofibromatosis type 1 (NF1)JOURNAL OF MEDICAL GENETICS, 1996, 33 (01) : 2 - 17Shen, MH论文数: 0 引用数: 0 h-index: 0机构: UNIV WALES COLL MED, INST MED GENET, CARDIFF CF4 4XN, S GLAM, WALES UNIV WALES COLL MED, INST MED GENET, CARDIFF CF4 4XN, S GLAM, WALESHarper, PS论文数: 0 引用数: 0 h-index: 0机构: UNIV WALES COLL MED, INST MED GENET, CARDIFF CF4 4XN, S GLAM, WALES UNIV WALES COLL MED, INST MED GENET, CARDIFF CF4 4XN, S GLAM, WALESUpadhyaya, M论文数: 0 引用数: 0 h-index: 0机构: UNIV WALES COLL MED, INST MED GENET, CARDIFF CF4 4XN, S GLAM, WALES UNIV WALES COLL MED, INST MED GENET, CARDIFF CF4 4XN, S GLAM, WALES
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- [25] Clinical and neuroradiological signs in adults with type 1 neurofibromatosisNEUROLOGIA, 2013, 28 (06): : 361 - 365Jimenez Caballero, P. E.论文数: 0 引用数: 0 h-index: 0机构: Hosp San Pedro Alcantara, Secc Neurol, Caceres, Spain Hosp San Pedro Alcantara, Secc Neurol, Caceres, SpainLopez Espuela, F.论文数: 0 引用数: 0 h-index: 0机构: Hosp San Pedro Alcantara, Secc Neurol, Caceres, Spain Hosp San Pedro Alcantara, Secc Neurol, Caceres, SpainPortilla Cuenca, J. C.论文数: 0 引用数: 0 h-index: 0机构: Hosp San Pedro Alcantara, Secc Neurol, Caceres, Spain Hosp San Pedro Alcantara, Secc Neurol, Caceres, SpainRomero Sevilla, R. M.论文数: 0 引用数: 0 h-index: 0机构: Hosp San Pedro Alcantara, Secc Neurol, Caceres, Spain Hosp San Pedro Alcantara, Secc Neurol, Caceres, SpainFermin Marrero, J. A.论文数: 0 引用数: 0 h-index: 0机构: Hosp San Pedro Alcantara, Secc Neurol, Caceres, Spain Hosp San Pedro Alcantara, Secc Neurol, Caceres, SpainCasado Naranjo, I.论文数: 0 引用数: 0 h-index: 0机构: Hosp San Pedro Alcantara, Secc Neurol, Caceres, Spain Hosp San Pedro Alcantara, Secc Neurol, Caceres, Spain
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- [27] A variable combination of features of Noonan syndrome and neurofibromatosis type I are caused by mutations in the NF1 geneAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2006, 140A (24) : 2749 - 2756Hueffmeier, Ulrike论文数: 0 引用数: 0 h-index: 0机构: Univ Erlangen Nurnberg, Inst Human Genet, D-91054 Erlangen, GermanyZenker, Martin论文数: 0 引用数: 0 h-index: 0机构: Univ Erlangen Nurnberg, Inst Human Genet, D-91054 Erlangen, GermanyHoyer, Juliane论文数: 0 引用数: 0 h-index: 0机构: Univ Erlangen Nurnberg, Inst Human Genet, D-91054 Erlangen, GermanyFahsold, Raimund论文数: 0 引用数: 0 h-index: 0机构: Univ Erlangen Nurnberg, Inst Human Genet, D-91054 Erlangen, GermanyRauch, Anita论文数: 0 引用数: 0 h-index: 0机构: Univ Erlangen Nurnberg, Inst Human Genet, D-91054 Erlangen, Germany Univ Erlangen Nurnberg, Inst Human Genet, D-91054 Erlangen, Germany
- [28] Prevalence of Choroidal Abnormalities and Lisch Nodules in Children Meeting Clinical and Molecular Diagnosis of Neurofibromatosis Type 1TRANSLATIONAL VISION SCIENCE & TECHNOLOGY, 2022, 11 (02):Pimentel, Mariana Flores论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Dept Ophthalmol & Visual Sci, 555 Univ Ave, Toronto, ON M5G 1X8, Canada Univ Toronto, Dept Ophthalmol & Vis Sci, Toronto, ON, Canada Hosp Sick Children, Dept Ophthalmol & Visual Sci, 555 Univ Ave, Toronto, ON M5G 1X8, CanadaHeath, Anna论文数: 0 引用数: 0 h-index: 0机构: Univ Toronto, Dalla Lana Sch Publ Hlth, Div Biostat, Toronto, ON, Canada Hosp Sick Children, Dept Ophthalmol & Visual Sci, 555 Univ Ave, Toronto, ON M5G 1X8, CanadaWan, Michael J.论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Dept Ophthalmol & Visual Sci, 555 Univ Ave, Toronto, ON M5G 1X8, Canada Univ Toronto, Dept Ophthalmol & Vis Sci, Toronto, ON, Canada Hosp Sick Children, Dept Ophthalmol & Visual Sci, 555 Univ Ave, Toronto, ON M5G 1X8, CanadaHussein, Rowaida论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Genet & Genome Biol, Toronto, ON, Canada Hosp Sick Children, Dept Ophthalmol & Visual Sci, 555 Univ Ave, Toronto, ON M5G 1X8, CanadaLeahy, Kate E.论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Dept Ophthalmol & Visual Sci, 555 Univ Ave, Toronto, ON M5G 1X8, Canada Univ Toronto, Dept Ophthalmol & Vis Sci, Toronto, ON, Canada Hosp Sick Children, Dept Ophthalmol & Visual Sci, 555 Univ Ave, Toronto, ON M5G 1X8, CanadaMacDonald, Heather论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Dept Ophthalmol & Visual Sci, 555 Univ Ave, Toronto, ON M5G 1X8, Canada Univ Toronto, Dept Mol Genet, Toronto, ON, Canada Hosp Sick Children, Dept Genet Counselling, Toronto, ON, Canada Hosp Sick Children, Dept Ophthalmol & Visual Sci, 555 Univ Ave, Toronto, ON M5G 1X8, CanadaTavares, Erika论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Genet & Genome Biol, Toronto, ON, Canada Hosp Sick Children, Dept Ophthalmol & Visual Sci, 555 Univ Ave, Toronto, ON M5G 1X8, CanadaVandenHoven, Cynthia论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Dept Ophthalmol & Visual Sci, 555 Univ Ave, Toronto, ON M5G 1X8, Canada Hosp Sick Children, Dept Ophthalmol & Visual Sci, 555 Univ Ave, Toronto, ON M5G 1X8, CanadaMacNeill, Katelyn论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Dept Ophthalmol & Visual Sci, 555 Univ Ave, Toronto, ON M5G 1X8, Canada Hosp Sick Children, Dept Ophthalmol & Visual Sci, 555 Univ Ave, Toronto, ON M5G 1X8, CanadaKannu, Peter论文数: 0 引用数: 0 h-index: 0机构: Univ Alberta, Dept Med Genet, Edmonton, AB, Canada Hosp Sick Children, Dept Ophthalmol & Visual Sci, 555 Univ Ave, Toronto, ON M5G 1X8, CanadaParkin, Patricia C.论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Dept Pediat, Toronto, ON, Canada Hosp Sick Children, Dept Ophthalmol & Visual Sci, 555 Univ Ave, Toronto, ON M5G 1X8, CanadaHeon, Elise论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Dept Ophthalmol & Visual Sci, 555 Univ Ave, Toronto, ON M5G 1X8, Canada Univ Toronto, Dept Ophthalmol & Vis Sci, Toronto, ON, Canada Hosp Sick Children, Genet & Genome Biol, Toronto, ON, Canada Hosp Sick Children, Dept Ophthalmol & Visual Sci, 555 Univ Ave, Toronto, ON M5G 1X8, CanadaReginald, Arun论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Dept Ophthalmol & Visual Sci, 555 Univ Ave, Toronto, ON M5G 1X8, Canada Univ Toronto, Dept Ophthalmol & Vis Sci, Toronto, ON, Canada Hosp Sick Children, Dept Ophthalmol & Visual Sci, 555 Univ Ave, Toronto, ON M5G 1X8, CanadaVincent, Ajoy论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Dept Ophthalmol & Visual Sci, 555 Univ Ave, Toronto, ON M5G 1X8, Canada Univ Toronto, Dept Ophthalmol & Vis Sci, Toronto, ON, Canada Hosp Sick Children, Genet & Genome Biol, Toronto, ON, Canada Hosp Sick Children, Dept Ophthalmol & Visual Sci, 555 Univ Ave, Toronto, ON M5G 1X8, Canada
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W.论文数: 0 引用数: 0 h-index: 0机构: Hopp Childrens Canc Ctr Heidelberg KiTZ, Heidelberg, Germany German Canc Res Ctr, Pediat Glioma Res Grp, Heidelberg, Germany Childrens Hosp Philadelphia, Div Oncol, 3615 Civ Ctr Blvd, Philadelphia, PA 19104 USALi, Yimei M.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Dept Biostat Epidemiol & Informat, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Oncol, 3615 Civ Ctr Blvd, Philadelphia, PA 19104 USAGuo, Xiaofan论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Dept Neurol, Sch Med, 660 South Euclid Ave,Box 8111, St Louis, MO 63110 USA Childrens Hosp Philadelphia, Div Oncol, 3615 Civ Ctr Blvd, Philadelphia, PA 19104 USASonawane, Poonam S.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Neurosurg, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Oncol, 3615 Civ Ctr Blvd, Philadelphia, PA 19104 USAWaanders, Angela J.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Oncol, 3615 Civ Ctr Blvd, Philadelphia, PA 19104 USA Lurie Childrens Hosp Chicago, Div Hematol Oncol, Chicago, IL USA Childrens Hosp Philadelphia, Div Oncol, 3615 Civ Ctr Blvd, Philadelphia, PA 19104 USAPhillips, Joanna J.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Pathol, San Francisco, CA 94140 USA Childrens Hosp Philadelphia, Div Oncol, 3615 Civ Ctr Blvd, Philadelphia, PA 19104 USAWeiss, William A.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Neurol, San Francisco, CA USA Childrens Hosp Philadelphia, Div Oncol, 3615 Civ Ctr Blvd, Philadelphia, PA 19104 USAResnick, Adam C.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Neurosurg, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Oncol, 3615 Civ Ctr Blvd, Philadelphia, PA 19104 USAGosline, Sara论文数: 0 引用数: 0 h-index: 0机构: Sage Bionetworks, Seattle, WA USA Pacific Northwest Natl Lab, Seattle, WA USA Childrens Hosp Philadelphia, Div Oncol, 3615 Civ Ctr Blvd, Philadelphia, PA 19104 USABanerjee, Jineta论文数: 0 引用数: 0 h-index: 0机构: Sage Bionetworks, Seattle, WA USA Childrens Hosp Philadelphia, Div Oncol, 3615 Civ Ctr Blvd, Philadelphia, PA 19104 USAGuinney, Justin论文数: 0 引用数: 0 h-index: 0机构: Sage Bionetworks, Seattle, WA USA Childrens Hosp Philadelphia, Div Oncol, 3615 Civ Ctr Blvd, Philadelphia, PA 19104 USAGnekow, Astrid论文数: 0 引用数: 0 h-index: 0机构: Univ Augsburg, Fac Med, Augsburg, Germany Childrens Hosp Philadelphia, Div Oncol, 3615 Civ Ctr Blvd, Philadelphia, PA 19104 USA论文数: 引用数: h-index:机构:Foreman, Nicholas K.论文数: 0 引用数: 0 h-index: 0机构: Univ Colorado, Denver, CO 80202 USA Childrens Hosp Philadelphia, Div Oncol, 3615 Civ Ctr Blvd, Philadelphia, PA 19104 USAKorshunov, Andrey论文数: 0 引用数: 0 h-index: 0机构: Heidelberg Univ, Dept Neuropathol, Heidelberg, Germany Childrens Hosp Philadelphia, Div Oncol, 3615 Civ Ctr Blvd, Philadelphia, PA 19104 USARyzhova, Marina论文数: 0 引用数: 0 h-index: 0机构: NN Burdenko Neurosurg Res Ctr, Dept Neuropathol, Moscow, Russia Childrens Hosp Philadelphia, Div Oncol, 3615 Civ Ctr Blvd, Philadelphia, PA 19104 USAMassimi, Luca论文数: 0 引用数: 0 h-index: 0机构: IRCCS, Fdn Policlin A Gemelli, Rome, Italy A Gemelli Hosp, Pediat Neurosurg, Rome, Italy Childrens Hosp Philadelphia, Div Oncol, 3615 Civ Ctr Blvd, Philadelphia, PA 19104 USAGururangan, Sri论文数: 0 引用数: 0 h-index: 0机构: UF Hlth Shands Hosp, Dept Neurosurg, Gainesville, FL USA Childrens Hosp Philadelphia, Div Oncol, 3615 Civ Ctr Blvd, Philadelphia, PA 19104 USAKieran, Mark W.论文数: 0 引用数: 0 h-index: 0机构: Dana Farber Canc Inst, Dept Pediat, Boston, MA 02115 USA Bristol Myers Squibb, Lawrenceville, NJ USA Childrens Hosp Philadelphia, Div Oncol, 3615 Civ Ctr Blvd, Philadelphia, PA 19104 USAWang, Zhihong论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Michigan, Div Hematol Oncol, Detroit, MI 48201 USA Childrens Hosp Richmond, Div Hematol & Oncol, Richmond, VA USA Childrens Hosp Philadelphia, Div Oncol, 3615 Civ Ctr Blvd, Philadelphia, PA 19104 USAFouladi, Maryam论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp Med Ctr, Div Hematol Oncol, Cincinnati, OH 45229 USA Nationwide Childrens Hosp, Div Hematol & Oncol, Columbus, OH USA Childrens Hosp Philadelphia, Div Oncol, 3615 Civ Ctr Blvd, Philadelphia, PA 19104 USASato, Mariko论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Stead Family Childrens Hosp, Div Hematol Oncol, Iowa City, IA USA Childrens Hosp Philadelphia, Div Oncol, 3615 Civ Ctr Blvd, Philadelphia, PA 19104 USAOra, Ingrid论文数: 0 引用数: 0 h-index: 0机构: Lund Univ, Canc Ctr, Lund, Sweden Childrens Hosp Philadelphia, Div Oncol, 3615 Civ Ctr Blvd, Philadelphia, PA 19104 USAHolm, Stefan论文数: 0 引用数: 0 h-index: 0机构: Karolinska Univ Hosp, Stockholm, Sweden Childrens Hosp Philadelphia, Div Oncol, 3615 Civ Ctr Blvd, Philadelphia, PA 19104 USAMarkham, Stephen J.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Oncol, 3615 Civ Ctr Blvd, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Oncol, 3615 Civ Ctr Blvd, Philadelphia, PA 19104 USABeck, Pengbo论文数: 0 引用数: 0 h-index: 0机构: Hopp Childrens Canc Ctr Heidelberg KiTZ, Heidelberg, Germany German Canc Res Ctr, Pediat Glioma Res Grp, Heidelberg, Germany Childrens Hosp Philadelphia, Div Oncol, 3615 Civ Ctr Blvd, Philadelphia, PA 19104 USAJaeger, Natalie论文数: 0 引用数: 0 h-index: 0机构: Hopp Childrens Canc Ctr Heidelberg KiTZ, Heidelberg, Germany German Canc Res Ctr, Pediat Glioma Res Grp, Heidelberg, Germany Childrens Hosp Philadelphia, Div Oncol, 3615 Civ Ctr Blvd, Philadelphia, PA 19104 USAWittmann, Andrea论文数: 0 引用数: 0 h-index: 0机构: Hopp Childrens Canc Ctr Heidelberg KiTZ, Heidelberg, Germany Childrens Hosp Philadelphia, Div Oncol, 3615 Civ Ctr Blvd, Philadelphia, PA 19104 USASommerkamp, Alexander C.论文数: 0 引用数: 0 h-index: 0机构: Hopp Childrens Canc Ctr Heidelberg KiTZ, Heidelberg, Germany German Canc Res Ctr, Pediat Glioma Res Grp, Heidelberg, Germany Childrens Hosp Philadelphia, Div Oncol, 3615 Civ Ctr Blvd, Philadelphia, PA 19104 USASahm, Felix论文数: 0 引用数: 0 h-index: 0机构: Heidelberg Univ, Dept Neuropathol, Heidelberg, Germany Childrens Hosp Philadelphia, Div Oncol, 3615 Civ Ctr Blvd, Philadelphia, PA 19104 USAPfister, Stefan M.论文数: 0 引用数: 0 h-index: 0机构: Hopp Childrens Canc Ctr Heidelberg KiTZ, Heidelberg, Germany German Canc Res Ctr, Pediat Glioma Res Grp, Heidelberg, Germany Heidelberg Univ Hosp, Dept Pediat Oncol Hematol Immunol & Pulmonol, Heidelberg, Germany Childrens Hosp Philadelphia, Div Oncol, 3615 Civ Ctr Blvd, Philadelphia, PA 19104 USAGutmann, David H.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Dept Neurol, Sch Med, 660 South Euclid Ave,Box 8111, St Louis, MO 63110 USA Childrens Hosp Philadelphia, Div Oncol, 3615 Civ Ctr Blvd, Philadelphia, PA 19104 USA
- [30] Neurofibromatosis type 1 and associated clinical abnormalities in 27 childrenKLINISCHE PADIATRIE, 2007, 219 (06): : 326 - 332Syrbe, S.论文数: 0 引用数: 0 h-index: 0机构: Univ Leipzig, Klin & Poliklin Kinder & Jugendliche, D-04103 Leipzig, GermanyEberle, K.论文数: 0 引用数: 0 h-index: 0机构: Univ Leipzig, Klin & Poliklin Kinder & Jugendliche, D-04103 Leipzig, GermanyStrenge, S.论文数: 0 引用数: 0 h-index: 0机构: Univ Leipzig, Klin & Poliklin Kinder & Jugendliche, D-04103 Leipzig, GermanyBernhard, M. K.论文数: 0 引用数: 0 h-index: 0机构: Univ Leipzig, Klin & Poliklin Kinder & Jugendliche, D-04103 Leipzig, GermanyHerbertz, S.论文数: 0 引用数: 0 h-index: 0机构: Univ Leipzig, Klin & Poliklin Kinder & Jugendliche, D-04103 Leipzig, GermanyBierbach, U.论文数: 0 引用数: 0 h-index: 0机构: Univ Leipzig, Klin & Poliklin Kinder & Jugendliche, D-04103 Leipzig, GermanyHirsch, W.论文数: 0 引用数: 0 h-index: 0机构: Univ Leipzig, Klin & Poliklin Kinder & Jugendliche, D-04103 Leipzig, GermanyFroster, U. G.论文数: 0 引用数: 0 h-index: 0机构: Univ Leipzig, Klin & Poliklin Kinder & Jugendliche, D-04103 Leipzig, GermanyKiess, W.论文数: 0 引用数: 0 h-index: 0机构: Univ Leipzig, Klin & Poliklin Kinder & Jugendliche, D-04103 Leipzig, GermanyMerkenschlager, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Leipzig, Klin & Poliklin Kinder & Jugendliche, D-04103 Leipzig, Germany