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- [21] Glucose Transporter Type 1 Deficiency Syndrome: A Single-Center Case SeriesTURKISH JOURNAL OF NEUROLOGY, 2021, 27 (03) : 343 - 346Yildirim, Mirac论文数: 0 引用数: 0 h-index: 0机构: Ankara Univ, Dept Pediat Neurol, Fac Med, Ankara, Turkey Ankara Univ, Dept Pediat Neurol, Fac Med, Ankara, TurkeyBabayigit, Omur论文数: 0 引用数: 0 h-index: 0机构: Hacettepe Univ, Dept Pediat Neurol, Fac Med, Ankara, Turkey Ankara Univ, Dept Pediat Neurol, Fac Med, Ankara, TurkeyIlgaz, Fatma论文数: 0 引用数: 0 h-index: 0机构: Hacettepe Univ, Dept Nutr & Dietet, Fac Hlth Sci, Ankara, Turkey Ankara Univ, Dept Pediat Neurol, Fac Med, Ankara, TurkeyYalnizoglu, Dilek论文数: 0 引用数: 0 h-index: 0机构: Hacettepe Univ, Dept Pediat Neurol, Fac Med, Ankara, Turkey Ankara Univ, Dept Pediat Neurol, Fac Med, Ankara, TurkeyTopcu, Meral论文数: 0 引用数: 0 h-index: 0机构: Hacettepe Univ, Dept Pediat Neurol, Fac Med, Ankara, Turkey Ankara Univ, Dept Pediat Neurol, Fac Med, Ankara, Turkey
- [22] NF1 Molecular Characterization and Neurofibromatosis Type I Genotype-Phenotype Correlation: The French ExperienceHUMAN MUTATION, 2013, 34 (11) : 1510 - 1518Sabbagh, Audrey论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, UMR745, INSERM, PRES Sorbonne Paris Cite,Fac Sci Pharmaceut & Bio, F-75006 Paris, France IRD, UMR216, Paris, France Univ Paris 05, Fac Sci Pharmaceut & Biol, PRES Sorbonne Paris Cite, F-75006 Paris, France Univ Paris 05, UMR745, INSERM, PRES Sorbonne Paris Cite,Fac Sci Pharmaceut & Bio, F-75006 Paris, FrancePasmant, Eric论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, UMR745, INSERM, PRES Sorbonne Paris Cite,Fac Sci Pharmaceut & Bio, F-75006 Paris, France Hop Cochin, AP HP, Serv Biochim & Genet Mol, F-75674 Paris, France Univ Paris 05, UMR745, INSERM, PRES Sorbonne Paris Cite,Fac Sci Pharmaceut & Bio, F-75006 Paris, FranceImbard, Apolline论文数: 0 引用数: 0 h-index: 0机构: Hop Robert Debre, Serv Biochim Hormonol, F-75019 Paris, France Univ Paris 05, UMR745, INSERM, PRES Sorbonne Paris Cite,Fac Sci Pharmaceut & Bio, F-75006 Paris, FranceLuscan, Armelle论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, UMR745, INSERM, PRES Sorbonne Paris Cite,Fac Sci Pharmaceut & Bio, F-75006 Paris, France Hop Cochin, AP HP, Serv Biochim & Genet Mol, F-75674 Paris, France Univ Paris 05, UMR745, INSERM, PRES Sorbonne Paris Cite,Fac Sci Pharmaceut & Bio, F-75006 Paris, FranceSoares, Magali论文数: 0 引用数: 0 h-index: 0机构: Hop Cochin, AP HP, Serv Biochim & Genet Mol, F-75674 Paris, France Univ Paris 05, UMR745, INSERM, PRES Sorbonne Paris Cite,Fac Sci Pharmaceut & Bio, F-75006 Paris, FranceBlanche, Helene论文数: 0 引用数: 0 h-index: 0机构: Fdn Jean Dausset Ctr Etud Polymorphisme Humain CE, Inst Genet Mol, Paris, France Univ Paris 05, UMR745, INSERM, PRES Sorbonne Paris Cite,Fac Sci Pharmaceut & Bio, F-75006 Paris, FranceLaurendeau, Ingrid论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, UMR745, INSERM, PRES Sorbonne Paris Cite,Fac Sci Pharmaceut & Bio, F-75006 Paris, France Univ Paris 05, UMR745, INSERM, PRES Sorbonne Paris Cite,Fac Sci Pharmaceut & Bio, F-75006 Paris, FranceFerkal, Salah论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp Henri Mondor Albert Chenevier, AP HP, INSERM, Ctr Invest Clin 006, Creteil, France Univ Paris 05, UMR745, INSERM, PRES Sorbonne Paris Cite,Fac Sci Pharmaceut & Bio, F-75006 Paris, FranceVidaud, Michel论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, UMR745, INSERM, PRES Sorbonne Paris Cite,Fac Sci Pharmaceut & Bio, F-75006 Paris, France Hop Cochin, AP HP, Serv Biochim & Genet Mol, F-75674 Paris, France Univ Paris 05, UMR745, INSERM, PRES Sorbonne Paris Cite,Fac Sci Pharmaceut & Bio, F-75006 Paris, FrancePinson, Stephane论文数: 0 引用数: 0 h-index: 0机构: Hop Edouard Herriot, Serv Genet Mol, Lyon, France Univ Paris 05, UMR745, INSERM, PRES Sorbonne Paris Cite,Fac Sci Pharmaceut & Bio, F-75006 Paris, FranceBellanne-Chantelot, Christine论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 06, Hop La Pitie Salpetriere, AP HP, Dept Genet, Paris, France Univ Paris 05, UMR745, INSERM, PRES Sorbonne Paris Cite,Fac Sci Pharmaceut & Bio, F-75006 Paris, FranceVidaud, Dominique论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, UMR745, INSERM, PRES Sorbonne Paris Cite,Fac Sci Pharmaceut & Bio, F-75006 Paris, France Hop Cochin, AP HP, Serv Biochim & Genet Mol, F-75674 Paris, France Univ Paris 05, UMR745, INSERM, PRES Sorbonne Paris Cite,Fac Sci Pharmaceut & Bio, F-75006 Paris, FranceParfait, Beatrice论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, UMR745, INSERM, PRES Sorbonne Paris Cite,Fac Sci Pharmaceut & Bio, F-75006 Paris, France Hop Cochin, AP HP, Serv Biochim & Genet Mol, F-75674 Paris, France Univ Paris 05, UMR745, INSERM, PRES Sorbonne Paris Cite,Fac Sci Pharmaceut & Bio, F-75006 Paris, FranceWolkenstein, Pierre论文数: 0 引用数: 0 h-index: 0机构: UPEC, Hop Henri Mondor, AP HP, Dept Dermatol,Ctr Reference Neurofibromatoses, Creteil, France UPEC, EA LIC 4393, Creteil, France Univ Paris 05, UMR745, INSERM, PRES Sorbonne Paris Cite,Fac Sci Pharmaceut & Bio, F-75006 Paris, France
- [23] A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the NetherlandsCLINICAL GENETICS, 2014, 85 (04) : 318 - 327van Minkelen, R.论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC, Dept Clin Genet, NL-3000 CA Rotterdam, Netherlands Erasmus MC, Dept Clin Genet, NL-3000 CA Rotterdam, Netherlandsvan Bever, Y.论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC, Dept Clin Genet, NL-3000 CA Rotterdam, Netherlands Erasmus MC, Dept Clin Genet, NL-3000 CA Rotterdam, NetherlandsKromosoeto, J. N. R.论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC, Dept Clin Genet, NL-3000 CA Rotterdam, Netherlands Erasmus MC, Dept Clin Genet, NL-3000 CA Rotterdam, NetherlandsWithagen-Hermans, C. J.论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC, Dept Clin Genet, NL-3000 CA Rotterdam, Netherlands Erasmus MC, Dept Clin Genet, NL-3000 CA Rotterdam, NetherlandsNieuwlaat, A.论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC, Dept Clin Genet, NL-3000 CA Rotterdam, Netherlands Erasmus MC, Dept Clin Genet, NL-3000 CA Rotterdam, NetherlandsHalley, D. J. J.论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC, Dept Clin Genet, NL-3000 CA Rotterdam, Netherlands Erasmus MC, Dept Clin Genet, NL-3000 CA Rotterdam, Netherlandsvan den Ouweland, A. M. W.论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC, Dept Clin Genet, NL-3000 CA Rotterdam, Netherlands Erasmus MC, Dept Clin Genet, NL-3000 CA Rotterdam, Netherlands
- [24] Possible modifier genes in the variation of neurofibromatosis type 1 clinical phenotypesJOURNAL OF NEUROGENETICS, 2018, 32 (02) : 65 - 77Sharafi, Parisa论文数: 0 引用数: 0 h-index: 0机构: TOBB Univ Econ & Technol, Fac Med, Ankara, Turkey TOBB Univ Econ & Technol, Fac Med, Ankara, TurkeyAyter, Sukriye论文数: 0 引用数: 0 h-index: 0机构: TOBB Univ Econ & Technol, Fac Med, Ankara, Turkey TOBB Univ Econ & Technol, Fac Med, Ankara, Turkey
- [25] Identification and characterization of NF1 splicing mutations in Korean patients with neurofibromatosis type 1JOURNAL OF HUMAN GENETICS, 2016, 61 (08) : 705 - 709论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Lee, Myoung-Keun论文数: 0 引用数: 0 h-index: 0机构: Sungkyunkwan Univ, Sch Med, Samsung Med Ctr, Dept Lab Med & Genet, 81 Irwon Ro, Seoul 06351, South Korea Soonchunhyang Univ, Coll Med, Bucheon Hosp, Dept Lab Med & Genet, Bucheon, South KoreaKim, Jong-Won论文数: 0 引用数: 0 h-index: 0机构: Sungkyunkwan Univ, Sch Med, Samsung Med Ctr, Dept Lab Med & Genet, 81 Irwon Ro, Seoul 06351, South Korea Soonchunhyang Univ, Coll Med, Bucheon Hosp, Dept Lab Med & Genet, Bucheon, South KoreaKi, Chang-Seok论文数: 0 引用数: 0 h-index: 0机构: Sungkyunkwan Univ, Sch Med, Samsung Med Ctr, Dept Lab Med & Genet, 81 Irwon Ro, Seoul 06351, South Korea Soonchunhyang Univ, Coll Med, Bucheon Hosp, Dept Lab Med & Genet, Bucheon, South Korea
- [26] The molecular landscape of glioma in patients with Neurofibromatosis 1NATURE MEDICINE, 2019, 25 (01) : 176 - +D'Angelo, Fulvio论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Med Ctr, Inst Canc Genet, New York, NY 10027 USA BIOGEM Ist Ric Genet G Salvatore, Ariano Irpino, Italy Columbia Univ, Med Ctr, Inst Canc Genet, New York, NY 10027 USA论文数: 引用数: h-index:机构:Tala论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Med Ctr, Inst Canc Genet, New York, NY 10027 USA Columbia Univ, Med Ctr, Inst Canc Genet, New York, NY 10027 USAGarofano, Luciano论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Med Ctr, Inst Canc Genet, New York, NY 10027 USA BIOGEM Ist Ric Genet G Salvatore, Ariano Irpino, Italy Columbia Univ, Med Ctr, Inst Canc Genet, New York, NY 10027 USAZhang, Jing论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Med Ctr, Inst Canc Genet, New York, NY 10027 USA Columbia Univ, Med Ctr, Inst Canc Genet, New York, NY 10027 USAFrattini, Veronique论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Med Ctr, Inst Canc Genet, New York, NY 10027 USA Columbia Univ, Med Ctr, Inst Canc Genet, New York, NY 10027 USACaruso, Francesca P.论文数: 0 引用数: 0 h-index: 0机构: BIOGEM Ist Ric Genet G Salvatore, Ariano Irpino, Italy Univ Sannio, Dept Sci & Technol, Benevento, Italy Columbia Univ, Med Ctr, Inst Canc Genet, New York, NY 10027 USALewis, Genevieve论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Med Ctr, Inst Canc Genet, New York, NY 10027 USA Columbia Univ, Med Ctr, Inst Canc Genet, New York, NY 10027 USAAlfaro, Kristin D.论文数: 0 引用数: 0 h-index: 0机构: Univ Texas MD Anderson Canc Ctr, John Mendelsohn Fac, Ctr FC7 3025 Neurooncol, Unit 0431, Houston, TX 77030 USA Columbia Univ, Med Ctr, Inst Canc Genet, New York, NY 10027 USABauchet, Luc论文数: 0 引用数: 0 h-index: 0机构: Montpellier Univ, Med Ctr, Gui Chauliac Hosp, Dept Neurosurg, Montpellier, France Columbia Univ, Med Ctr, Inst Canc Genet, New York, NY 10027 USABerzero, Giulia论文数: 0 引用数: 0 h-index: 0机构: UPMC Univ Paris 06, Sorbonne Univ, AP HP, UMR S 1127,INSERM,U1127,CNRS,UMR 7225,ICM, Paris, France Columbia Univ, Med Ctr, Inst Canc Genet, New York, NY 10027 USACachia, David论文数: 0 引用数: 0 h-index: 0机构: Med Univ South Carolina, Dept Neurooncol, Charleston, SC 29425 USA Med Univ South Carolina, Dept Neurosurg, Charleston, SC 29425 USA Columbia Univ, Med Ctr, Inst Canc Genet, New York, NY 10027 USACangiano, Mario论文数: 0 引用数: 0 h-index: 0机构: BIOGEM Ist Ric Genet G Salvatore, Ariano Irpino, Italy Columbia Univ, Med Ctr, Inst Canc Genet, New York, NY 10027 USACapelle, Laurent论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, AP HP, Serv Neurochirurg, Paris, France Columbia Univ, Med Ctr, Inst Canc Genet, New York, NY 10027 USAde Groot, John论文数: 0 引用数: 0 h-index: 0机构: Univ Texas MD Anderson Canc Ctr, Houston, TX 77030 USA Columbia Univ, Med Ctr, Inst Canc Genet, New York, NY 10027 USADiMeco, Francesco论文数: 0 引用数: 0 h-index: 0机构: Ist Nazl Neurol Carlo Besta, Dept Neurol Surg, Milan, Italy Univ Milan, Dept Pathophysiol & Transplantat, Milan, Italy Hunterian Brain Tumor Res Lab, CRB2 2M41, Baltimore, MD USA Columbia Univ, Med Ctr, Inst Canc Genet, New York, NY 10027 USADucray, Francois论文数: 0 引用数: 0 h-index: 0机构: Univ Claude Bernard Lyon 1, Hosp Civils Lyon, Canc Res Ctr Lyon,CNRS,UMR 5286, Serv Neurooncol,Dept Canc Cell Plast,INSERM,U1052, Lyon, France Columbia Univ, Med Ctr, Inst Canc Genet, New York, NY 10027 USAFarah, Walid论文数: 0 引用数: 0 h-index: 0机构: CHU Dijon, Dept Neurosurg, Dijon, France Columbia Univ, Med Ctr, Inst Canc Genet, New York, NY 10027 USAFinocchiaro, Gaetano论文数: 0 引用数: 0 h-index: 0机构: Ist Nazl Neurol Carlo Besta, IRCCS Fdn, Unit Mol Neurooncol, Milan, Italy Columbia Univ, Med Ctr, Inst Canc Genet, New York, NY 10027 USAGoutagny, Stephane论文数: 0 引用数: 0 h-index: 0机构: Hop Beaujon, AP HP, Serv Neurochirurg, Clichy, France Columbia Univ, Med Ctr, Inst Canc Genet, New York, NY 10027 USAKamiya-Matsuoka, Carlos论文数: 0 引用数: 0 h-index: 0机构: Univ Texas MD Anderson Canc Ctr, Houston, TX 77030 USA Columbia Univ, Med Ctr, Inst Canc Genet, New York, NY 10027 USALavarino, Cinzia论文数: 0 引用数: 0 h-index: 0机构: Fdn St Joan Deu, Dev Tumor Lab, Barcelona, Spain Columbia Univ, Med Ctr, Inst Canc Genet, New York, NY 10027 USALoiseau, Hugues论文数: 0 引用数: 0 h-index: 0机构: Bordeaux Univ, Bordeaux Univ Hospital, Dept Neurosurg, Labex TRAIL ANR 10 LABX 57 IMOTION EA 7435, Bordeaux, France Columbia Univ, Med Ctr, Inst Canc Genet, New York, NY 10027 USALorgis, Veronique论文数: 0 引用数: 0 h-index: 0机构: Ctr GF Leclerc, Dept Med Oncol, Dijon, France Columbia Univ, Med Ctr, Inst Canc Genet, New York, NY 10027 USAMarras, Carlo E.论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Pediat Hosp, Dept Neurosci & Neurorehabilitat, Pediat Neurosurg Unit, Rome, Italy Columbia Univ, Med Ctr, Inst Canc Genet, New York, NY 10027 USAMcCutcheon, Ian论文数: 0 引用数: 0 h-index: 0机构: Univ Texas MD Anderson Canc Ctr, Houston, TX 77030 USA Columbia Univ, Med Ctr, Inst Canc Genet, New York, NY 10027 USANam, Do-Hyun论文数: 0 引用数: 0 h-index: 0机构: Sungkyunkwan Univ, Sch Med, Samsung Med Ctr, Dept Neurosurg, Seoul, South Korea Sungkyunkwan Univ, SAIHST, Dept Hlth Sci & Technol, Seoul, South Korea Columbia Univ, Med Ctr, Inst Canc Genet, New York, NY 10027 USARonchi, Susanna论文数: 0 引用数: 0 h-index: 0机构: UPMC Univ Paris 06, Sorbonne Univ, AP HP, UMR S 1127,INSERM,U1127,CNRS,UMR 7225,ICM, Paris, France Columbia Univ, Med Ctr, Inst Canc Genet, New York, NY 10027 USASaletti, Veronica论文数: 0 引用数: 0 h-index: 0机构: Ist Nazl Neurol Carlo Besta, IRCCS Fdn, Dev Neurol Unit, Milan, Italy Columbia Univ, Med Ctr, Inst Canc Genet, New York, NY 10027 USASeizeur, Romuald论文数: 0 引用数: 0 h-index: 0机构: Univ Brest, CHRU Brest, Hop Cavale Blanche, Serv Neurochirurg, Brest, France Columbia Univ, Med Ctr, Inst Canc Genet, New York, NY 10027 USASlopis, John论文数: 0 引用数: 0 h-index: 0机构: Univ Texas MD Anderson Canc Ctr, Houston, TX 77030 USA Columbia Univ, Med Ctr, Inst Canc Genet, New York, NY 10027 USASunol, Mariona论文数: 0 引用数: 0 h-index: 0机构: Hosp St Joan Deu, Dept Pathol, Barcelona, Spain Columbia Univ, Med Ctr, Inst Canc Genet, New York, NY 10027 USAVandenbos, Fanny论文数: 0 引用数: 0 h-index: 0机构: Pasteur I Univ Hosp, Cent Lab Pathol, Nice, France Columbia Univ, Med Ctr, Inst Canc Genet, New York, NY 10027 USAVarlet, Pascale论文数: 0 引用数: 0 h-index: 0机构: St Anna Hosp, Dept Neuropathol, Paris, France Inst Psychiat & Neurosci Paris, INSERM, IMA Brain, U894, Paris, France Columbia Univ, Med Ctr, Inst Canc Genet, New York, NY 10027 USAVidaud, Dominique论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, EA 7331, Paris, France Hop Cochin, AP HP, Serv Genet & Biol Mol, Paris, France Columbia Univ, Med Ctr, Inst Canc Genet, New York, NY 10027 USAWatts, Colin论文数: 0 引用数: 0 h-index: 0机构: Univ Birmingham Edgbaston, Inst Canc & Genom Sci, Birmingham, W Midlands, England Columbia Univ, Med Ctr, Inst Canc Genet, New York, NY 10027 USATabar, Viviane论文数: 0 引用数: 0 h-index: 0机构: Mem Sloan Kettering Canc Ctr, Dept Neurosurg, 1275 York Ave, New York, NY 10021 USA Columbia Univ, Med Ctr, Inst Canc Genet, New York, NY 10027 USAReuss, David E.论文数: 0 引用数: 0 h-index: 0机构: German Canc Res Ctr, Clin Cooperat Unit Neuropathol, Heidelberg, Germany Heidelberg Univ Hosp, Inst Pathol, Dept Neuropathol, Heidelberg, Germany Columbia Univ, Med Ctr, Inst Canc Genet, New York, NY 10027 USAKim, Seung-Ki论文数: 0 引用数: 0 h-index: 0机构: Seoul Natl Univ, Coll Med, Childrens Hosp, Div Pediat Neurosurg, Seoul, South Korea Columbia Univ, Med Ctr, Inst Canc Genet, New York, NY 10027 USAMeyronet, David论文数: 0 引用数: 0 h-index: 0机构: Est Hosp Civils Lyon, Ctr Pathol & Neuropathol, Lyon, France Columbia Univ, Med Ctr, Inst Canc Genet, New York, NY 10027 USA论文数: 引用数: h-index:机构:Salvador, Hector论文数: 0 引用数: 0 h-index: 0机构: Hosp St Joan Deu, Pediat Oncol Unit, Barcelona, Spain Columbia Univ, Med Ctr, Inst Canc Genet, New York, NY 10027 USABhat, Krishna P.论文数: 0 引用数: 0 h-index: 0机构: Univ Texas MD Anderson Canc Ctr, Houston, TX 77030 USA Columbia Univ, Med Ctr, Inst Canc Genet, New York, NY 10027 USAEoli, Marica论文数: 0 引用数: 0 h-index: 0机构: Ist Nazl Neurol Carlo Besta, IRCCS Fdn, Unit Mol Neurooncol, Milan, Italy Columbia Univ, Med Ctr, Inst Canc Genet, New York, NY 10027 USA论文数: 引用数: h-index:机构:Lasorella, Anna论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Med Ctr, Inst Canc Genet, New York, NY 10027 USA Columbia Univ, Dept Pediat, Med Ctr, New York, NY 10027 USA Columbia Univ, Dept Pathol & Cell Biol, Med Ctr, New York, NY 10027 USA Columbia Univ, Med Ctr, Inst Canc Genet, New York, NY 10027 USA论文数: 引用数: h-index:机构:
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