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- [1] Breast cancer risk in neurofibromatosis type 1 is a function of the type of NF1 gene mutation: a new genotype-phenotype correlationJOURNAL OF MEDICAL GENETICS, 2019, 56 (04) : 209 - 219Frayling, Ian M.论文数: 0 引用数: 0 h-index: 0机构: Cardiff Univ, Inherited Tumour Syndromes Res Grp, Inst Canc & Genet, Cardiff, S Glam, Wales Univ Hosp Wales, All Wales Med Genet Serv, Inst Med Genet, Cardiff, S Glam, Wales Cardiff Univ, Inherited Tumour Syndromes Res Grp, Inst Canc & Genet, Cardiff, S Glam, WalesMautner, Victor-Felix论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Dept Neurol, Hamburg, Germany Cardiff Univ, Inherited Tumour Syndromes Res Grp, Inst Canc & Genet, Cardiff, S Glam, Walesvan Minkelen, Rick论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC, Clin Genet, Rotterdam, Netherlands Cardiff Univ, Inherited Tumour Syndromes Res Grp, Inst Canc & Genet, Cardiff, S Glam, WalesKallionpaa, Roope A.论文数: 0 引用数: 0 h-index: 0机构: Turun Yliopisto, Dept Cell Biol & Anat, Turku, Finland Cardiff Univ, Inherited Tumour Syndromes Res Grp, Inst Canc & Genet, Cardiff, S Glam, WalesAktas, Safiye论文数: 0 引用数: 0 h-index: 0机构: Dokuz Eylul Univ, Izmir, Turkey Cardiff Univ, Inherited Tumour Syndromes Res Grp, Inst Canc & Genet, Cardiff, S Glam, WalesBaralle, Diana论文数: 0 引用数: 0 h-index: 0机构: Univ Southampton, Fac Med, Southampton, Hants, England Cardiff Univ, Inherited Tumour Syndromes Res Grp, Inst Canc & Genet, Cardiff, S Glam, WalesBen-Shachar, Shay论文数: 0 引用数: 0 h-index: 0机构: Tel Aviv Univ, Genet Inst, Tel Aviv Sourasky Med Ctr, Sackler Fac Med, Tel Aviv, Israel Cardiff Univ, Inherited Tumour Syndromes Res Grp, Inst Canc & Genet, Cardiff, S Glam, WalesCallaway, Alison论文数: 0 引用数: 0 h-index: 0机构: Salisbury NHS Fdn Trust, Wessex Reg Genet Lab, Salisbury, Wilts, England Cardiff Univ, Inherited Tumour Syndromes Res Grp, Inst Canc & Genet, Cardiff, S Glam, WalesCox, Harriet论文数: 0 引用数: 0 h-index: 0机构: Cardiff Univ, Inst Canc & Genet, Cardiff, S Glam, Wales Cardiff Univ, Inherited Tumour Syndromes Res Grp, Inst Canc & Genet, Cardiff, S Glam, WalesEccles, Diana M.论文数: 0 引用数: 0 h-index: 0机构: Univ Southampton, Fac Med, Southampton, Hants, England Cardiff Univ, Inherited Tumour Syndromes Res Grp, Inst Canc & Genet, Cardiff, S Glam, WalesFerkal, Salah论文数: 0 引用数: 0 h-index: 0机构: Hop Henri Mondor, Serv Sante Publ, Creteil, France Cardiff Univ, Inherited Tumour Syndromes Res Grp, Inst Canc & Genet, Cardiff, S Glam, WalesLaDuca, Holly论文数: 0 引用数: 0 h-index: 0机构: Ambry Genetics Corp, Clin Diagnost, Aliso Viejo, CA USA Cardiff Univ, Inherited Tumour Syndromes Res Grp, Inst Canc & Genet, Cardiff, S Glam, WalesLazaro, Conxi论文数: 0 引用数: 0 h-index: 0机构: Inst Catala Oncol, Hereditary Canc Program, Lhospitalet De Llobregat, Spain Cardiff Univ, Inherited Tumour Syndromes Res Grp, Inst Canc & Genet, Cardiff, S Glam, WalesRogers, Mark T.论文数: 0 引用数: 0 h-index: 0机构: Cardiff Univ, Inherited Tumour Syndromes Res Grp, Inst Canc & Genet, Cardiff, S Glam, Wales Univ Hosp Wales, All Wales Med Genet Serv, Inst Med Genet, Cardiff, S Glam, Wales Cardiff Univ, Inherited Tumour Syndromes Res Grp, Inst Canc & Genet, Cardiff, S Glam, WalesStuenkel, Aaron J.论文数: 0 引用数: 0 h-index: 0机构: Ambry Genetics Corp, Clin Diagnost, Aliso Viejo, CA USA Cardiff Univ, Inherited Tumour Syndromes Res Grp, Inst Canc & Genet, Cardiff, S Glam, WalesSummerour, Pia论文数: 0 引用数: 0 h-index: 0机构: Ambry Genetics Corp, Clin Diagnost, Aliso Viejo, CA USA Cardiff Univ, Inherited Tumour Syndromes Res Grp, Inst Canc & Genet, Cardiff, S Glam, WalesVaran, Ali论文数: 0 引用数: 0 h-index: 0机构: Hacettepe Univ, Onkol Enstitusu, Ankara, Turkey Cardiff Univ, Inherited Tumour Syndromes Res Grp, Inst Canc & Genet, Cardiff, S Glam, WalesYap, Yoon Sim论文数: 0 引用数: 0 h-index: 0机构: Natl Canc Ctr Singapore, Dept Med Oncol, Singapore, Singapore Cardiff Univ, Inherited Tumour Syndromes Res Grp, Inst Canc & Genet, Cardiff, S Glam, WalesZehou, Ouidad论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Est Creteil, Hop Henri Mondor, APHP, Creteil, France Cardiff Univ, Inherited Tumour Syndromes Res Grp, Inst Canc & Genet, Cardiff, S Glam, WalesPeltonen, Juha论文数: 0 引用数: 0 h-index: 0机构: Turun Yliopisto, Dept Cell Biol & Anat, Turku, Finland Cardiff Univ, Inherited Tumour Syndromes Res Grp, Inst Canc & Genet, Cardiff, S Glam, WalesEvans, D. Gareth论文数: 0 引用数: 0 h-index: 0机构: Cent Manchester Univ Hosp NHS Fdn Trust, Manchester Ctr Genom Med, Manchester, Lancs, England Univ Manchester, Manchester Ctr Genom Med, Manchester, Lancs, England Cardiff Univ, Inherited Tumour Syndromes Res Grp, Inst Canc & Genet, Cardiff, S Glam, Wales论文数: 引用数: h-index:机构:Upadhyaya, Meena论文数: 0 引用数: 0 h-index: 0机构: Cardiff Univ, Inherited Tumour Syndromes Res Grp, Inst Canc & Genet, Cardiff, S Glam, Wales Cardiff Univ, Inherited Tumour Syndromes Res Grp, Inst Canc & Genet, Cardiff, S Glam, Wales
- [2] Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848AMERICAN JOURNAL OF HUMAN GENETICS, 2018, 102 (01) : 69 - 87Koczkowska, Magdalena论文数: 0 引用数: 0 h-index: 0机构: Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USA Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USAChen, Yunjia论文数: 0 引用数: 0 h-index: 0机构: Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USA Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USACallens, Tom论文数: 0 引用数: 0 h-index: 0机构: Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USA Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USAGomes, Alicia论文数: 0 引用数: 0 h-index: 0机构: Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USA Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USASharp, Angela论文数: 0 引用数: 0 h-index: 0机构: Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USA Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USAJohnson, Sherrell论文数: 0 引用数: 0 h-index: 0机构: Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USA Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USAHsiao, Meng-Chang论文数: 0 引用数: 0 h-index: 0机构: Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USA Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USAChen, Zhenbin论文数: 0 引用数: 0 h-index: 0机构: Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USA Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USABalasubramanian, Meena论文数: 0 引用数: 0 h-index: 0机构: Sheffield Childrens NHS Fdn Trust, Sheffield Clin Genet Serv, Sheffield S10 2TH, S Yorkshire, England Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USABarnett, Christopher P.论文数: 0 引用数: 0 h-index: 0机构: Womens & Childrens Hosp SA Pathol, Adelaide, SA 5006, Australia Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USABecker, Troy A.论文数: 0 引用数: 0 h-index: 0机构: John Hopkins All Childrens Hosp, Med Genet, St Petersburg, FL 33701 USA Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USABen-Shachar, Shay论文数: 0 引用数: 0 h-index: 0机构: Genet Inst Inc, Tel Aviv Sourasky Med Ctr, IL-6997801 Tel Aviv, Israel Genet Inst Inc, Sackler Fac Med, IL-6997801 Tel Aviv, Israel Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USABertola, Debora R.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Dept Pediat, BR-05403000 Sao Paulo, Brazil Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USABlakeley, Jaishri O.论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Sch Med, Dept Neurol, Baltimore, MD 21287 USA Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USABurkitt-Wright, Emma M. M.论文数: 0 引用数: 0 h-index: 0机构: Univ Manchester, Cent Manchester Univ Hosp NHS Fdn Trust, Manchester Acad Hlth Sci Ctr, Div Evolut & Genom Sci,Gen Med, Manchester M13 9WL, Lancs, England Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USACallaway, Alison论文数: 0 引用数: 0 h-index: 0机构: Salisbury NHS Fdn Trust, Wessex Reg Genet Lab, Salisbury SP2 8BJ, Wilts, England Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USACrenshaw, Melissa论文数: 0 引用数: 0 h-index: 0机构: John Hopkins All Childrens Hosp, Med Genet, St Petersburg, FL 33701 USA Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USACunha, Karin S.论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Fluminense, Sch Med, Dept Pathol, BR-24220900 Niteroi, RJ, Brazil Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USACunningham, Mitch论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Michigan, Detroit Med Ctr, Div Genet Genom & Metab Disorders, Detroit, MI 48201 USA Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USAD'Agostino, Maria D.论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Hlth Ctr, Dept Med Genet, Montreal H4A 3J1, PQ, Canada Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USADahan, Karin论文数: 0 引用数: 0 h-index: 0机构: Inst Pathol & Genet, Ctr Human Genet, B-6041 Gosselies, Belgium Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USADe Luca, Alessandro论文数: 0 引用数: 0 h-index: 0机构: IRCCS, Casa Sollievo Sofferenza Hosp, Mol Genet Unit, I-71013 San Giovanni Rotondo, Italy Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USADestree, Anne论文数: 0 引用数: 0 h-index: 0机构: Inst Pathol & Genet, Ctr Human Genet, B-6041 Gosselies, Belgium Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USADhamija, Radhika论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Clin Genom & Neurol, Phoenix, AZ 85259 USA Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USAEoli, Marica论文数: 0 引用数: 0 h-index: 0机构: IRCCS Fdn, Carlo Besta Neurol Inst, Unit Mol Neurooncol, I-20133 Milan, Italy Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USAEvans, D. Gareth R.论文数: 0 引用数: 0 h-index: 0机构: Univ Manchester, Cent Manchester Univ Hosp NHS Fdn Trust, Manchester Acad Hlth Sci Ctr, Div Evolut & Genom Sci,Gen Med, Manchester M13 9WL, Lancs, England Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USAGalvin-Parton, Patricia论文数: 0 引用数: 0 h-index: 0机构: Stony Brook Childrens, Dept Genet, Stony Brook, NY 11794 USA Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USAGeorge-Abraham, Jaya K.论文数: 0 引用数: 0 h-index: 0机构: Dell Childrens Med Ctr Cent Texas, Austin, TX 78723 USA Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USAGripp, Karen W.论文数: 0 引用数: 0 h-index: 0机构: DuPont Hosp Children, Div Med Genet, Wilmington, DE 19803 USA Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USAGuevara-Campos, Jose论文数: 0 引用数: 0 h-index: 0机构: Univ Oriente, Felipe Guevara Rojas Hosp, Pediat Serv, El Tigre Anzoategui 6034, Spain Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USAHanchard, Neil A.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USAHernandez-Chico, Concepcion论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Ramon & Cayal, Dept Genet, Inst Hlth Res IRYCIS, Madrid 28034, Spain Hosp Univ Ramon & Cayal, Ctr Biomed Res Network Rare Dis CIBERER, Madrid 28034, Spain Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USAImmken, LaDonna论文数: 0 引用数: 0 h-index: 0机构: Dell Childrens Med Ctr Cent Texas, Austin, TX 78723 USA Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USAJanssens, Sandra论文数: 0 引用数: 0 h-index: 0机构: Ghent Univ Hosp, Ctr Med Genet, B-9000 Ghent, Belgium Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USAJones, Kristi J.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Dept Clin Genet, Westmead, NSW 2145, Australia Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USAKeena, Beth A.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Sch Med, Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USA Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USAKochhar, Aaina论文数: 0 引用数: 0 h-index: 0机构: Valley Childrens Healthcare, Dept Genet, Madera, CA 93636 USA Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USALiebelt, Jan论文数: 0 引用数: 0 h-index: 0机构: Womens & Childrens Hosp SA Pathol, Adelaide, SA 5006, Australia Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USAMartir-Negron, Arelis论文数: 0 引用数: 0 h-index: 0机构: Miami Canc Inst, Ctr Genom Med, Div Clin Genet, Miami, FL 33176 USA Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USAMahoney, Maurice J.论文数: 0 引用数: 0 h-index: 0机构: Yale Univ, Dept Genet, New Haven, CT 06520 USA Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USAMaystadt, Isabelle论文数: 0 引用数: 0 h-index: 0机构: Inst Pathol & Genet, Ctr Human Genet, B-6041 Gosselies, Belgium Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USAMcDougall, Carey论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Sch Med, Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USA Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USAMcEntagart, Meriel论文数: 0 引用数: 0 h-index: 0机构: St Georges Univ Hosp NHS Fdn Trust, London SW17 0QT, England Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USAMendelsohn, Nancy论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Minnesota, Genom Med Program, Minneapolis, MN 55404 USA Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USAMiller, David T.论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Multidisciplinary Neurofibromatosis Program, Boston, MA 02115 USA Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USA论文数: 引用数: h-index:机构:Morton, Jenny论文数: 0 引用数: 0 h-index: 0机构: BirminghamWomens & Childrens NHS Fdn Trust, Birmingham B15 2TG, W Midlands, England Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USAPappas, John论文数: 0 引用数: 0 h-index: 0机构: NYU, Sch Med, Clin Genet Serv, Dept Pediat, New York, NY 10016 USA Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USAPlotkin, Scott R.论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Dept Neurol, Boston, MA 02114 USA Massachusetts Gen Hosp, Ctr Canc, Boston, MA 02114 USA Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USAPond, Dinel论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Minnesota, Genom Med Program, Minneapolis, MN 55404 USA Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USA
- [3] 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, France论文数: 引用数: h-index:机构:Wolkenstein, 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
- [4] MUTATION SCREENING AND GENOTYPE-PHENOTYPE CORRELATION IN NF2 PATIENTSJOURNAL OF MEDICAL GENETICS, 1995, 32 (02) : 138 - 138BOURN, D论文数: 0 引用数: 0 h-index: 0机构: UNIV NEWCASTLE UPON TYNE,DIV HUMAN GENET,NEWCASTLE TYNE NE1 7RU,TYNE & WEAR,ENGLANDMASON, S论文数: 0 引用数: 0 h-index: 0机构: UNIV NEWCASTLE UPON TYNE,DIV HUMAN GENET,NEWCASTLE TYNE NE1 7RU,TYNE & WEAR,ENGLANDTEKES, S论文数: 0 引用数: 0 h-index: 0机构: UNIV NEWCASTLE UPON TYNE,DIV HUMAN GENET,NEWCASTLE TYNE NE1 7RU,TYNE & WEAR,ENGLANDCARTER, SA论文数: 0 引用数: 0 h-index: 0机构: UNIV NEWCASTLE UPON TYNE,DIV HUMAN GENET,NEWCASTLE TYNE NE1 7RU,TYNE & WEAR,ENGLANDEVANS, DGR论文数: 0 引用数: 0 h-index: 0机构: UNIV NEWCASTLE UPON TYNE,DIV HUMAN GENET,NEWCASTLE TYNE NE1 7RU,TYNE & WEAR,ENGLANDSTRACHAN, T论文数: 0 引用数: 0 h-index: 0机构: UNIV NEWCASTLE UPON TYNE,DIV HUMAN GENET,NEWCASTLE TYNE NE1 7RU,TYNE & WEAR,ENGLAND
- [5] Emerging genotype-phenotype relationships in patients with large NF1 deletionsHUMAN GENETICS, 2017, 136 (04) : 349 - 376Kehrer-Sawatzki, Hildegard论文数: 0 引用数: 0 h-index: 0机构: Univ Ulm, Inst Human Genet, Albert Einstein Allee 11, D-89081 Ulm, Germany Univ Ulm, Inst Human Genet, Albert Einstein Allee 11, D-89081 Ulm, GermanyMautner, Victor-Felix论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Hamburg Eppendorf, Dept Neurol, D-20246 Hamburg, Germany Univ Ulm, Inst Human Genet, Albert Einstein Allee 11, D-89081 Ulm, GermanyCooper, David N.论文数: 0 引用数: 0 h-index: 0机构: Cardiff Univ, Sch Med, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales Univ Ulm, Inst Human Genet, Albert Einstein Allee 11, D-89081 Ulm, Germany
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