共 50 条
- [1] LZTR1 molecular genetic overlap with clinical implications for Noonan syndrome and schwannomatosisBMC MEDICAL GENOMICS, 2022, 15 (01)Farncombe, Kirsten M.论文数: 0 引用数: 0 h-index: 0机构: Univ Hlth Network, Toronto Gen Hosp, Res Inst, Toronto, ON, Canada Univ Hlth Network, Toronto Gen Hosp, Res Inst, Toronto, ON, CanadaThain, Emily论文数: 0 引用数: 0 h-index: 0机构: Univ Hlth Network, Princess Margaret Canc Ctr, Bhalwani Familial Canc Clin, Toronto, ON, Canada Univ Hlth Network, Toronto Gen Hosp, Res Inst, Toronto, ON, CanadaBarnett-Tapia, Carolina论文数: 0 引用数: 0 h-index: 0机构: Univ Toronto, Univ Hlth Network, Dept Med, Div Neurol, Toronto, ON, Canada Univ Hlth Network, Toronto Gen Hosp, Ellen & Martin Prossermann Ctr Neuromuscular Dis, Toronto, ON, Canada Univ Hlth Network, Toronto Gen Hosp, Res Inst, Toronto, ON, CanadaSadeghian, Hamid论文数: 0 引用数: 0 h-index: 0机构: Univ Toronto, Univ Hlth Network, Dept Med, Div Neurol, Toronto, ON, Canada Univ Hlth Network, Toronto Gen Hosp, Ellen & Martin Prossermann Ctr Neuromuscular Dis, Toronto, ON, Canada Univ Hlth Network, Toronto Gen Hosp, Res Inst, Toronto, ON, CanadaKim, Raymond H.论文数: 0 引用数: 0 h-index: 0机构: Univ Hlth Network, Princess Margaret Canc Ctr, Div Med Oncol & Hematol, Sinai Hlth Syst, Toronto, ON, Canada Univ Toronto, Hosp Sick Children, Ontario Inst Canc Res, Dept Med,Div Clin & Metab Genet, Toronto, ON, Canada Univ Hlth Network, Toronto Gen Hosp, Res Inst, Toronto, ON, Canada
- [2] LZTR1: Genotype Expansion in Noonan SyndromeHORMONE RESEARCH IN PAEDIATRICS, 2020, 92 (04): : 269 - 275Guemes, Maria论文数: 0 引用数: 0 h-index: 0机构: Hosp Infantil Univ Nino Jesus, Dept Pediat, Avda Menendez Pelayo 65, ES-28009 Madrid, Spain Hosp Infantil Univ Nino Jesus, Dept Pediat Endocrinol, Avda Menendez Pelayo 65, ES-28009 Madrid, Spain La Princesa Res Inst, Madrid, Spain Hosp Infantil Univ Nino Jesus, Dept Pediat, Avda Menendez Pelayo 65, ES-28009 Madrid, SpainMartin-Rivada, Alvaro论文数: 0 引用数: 0 h-index: 0机构: Hosp Infantil Univ Nino Jesus, Dept Pediat, Avda Menendez Pelayo 65, ES-28009 Madrid, Spain Hosp Infantil Univ Nino Jesus, Dept Pediat Endocrinol, Avda Menendez Pelayo 65, ES-28009 Madrid, Spain Hosp Infantil Univ Nino Jesus, Dept Pediat, Avda Menendez Pelayo 65, ES-28009 Madrid, SpainOrtiz-Cabrera, Neimar Valentina论文数: 0 引用数: 0 h-index: 0机构: Hosp Infantil Univ Nino Jesus, Dept Clin Genet, Madrid, Spain Hosp Infantil Univ Nino Jesus, Dept Pediat, Avda Menendez Pelayo 65, ES-28009 Madrid, SpainMartos-Moreno, Gabriel Angel论文数: 0 引用数: 0 h-index: 0机构: Hosp Infantil Univ Nino Jesus, Dept Pediat, Avda Menendez Pelayo 65, ES-28009 Madrid, Spain Hosp Infantil Univ Nino Jesus, Dept Pediat Endocrinol, Avda Menendez Pelayo 65, ES-28009 Madrid, Spain La Princesa Res Inst, Madrid, Spain Univ Autonoma Madrid, Dept Pediat, Madrid, Spain Inst Salud Carlos III, Ctr Invest Biomed Red Fisiopatol Obesidad & Nutr, Madrid, Spain Hosp Infantil Univ Nino Jesus, Dept Pediat, Avda Menendez Pelayo 65, ES-28009 Madrid, SpainPozo-Roman, Jesus论文数: 0 引用数: 0 h-index: 0机构: Hosp Infantil Univ Nino Jesus, Dept Pediat, Avda Menendez Pelayo 65, ES-28009 Madrid, Spain Hosp Infantil Univ Nino Jesus, Dept Pediat Endocrinol, Avda Menendez Pelayo 65, ES-28009 Madrid, Spain La Princesa Res Inst, Madrid, Spain Univ Autonoma Madrid, Dept Pediat, Madrid, Spain Inst Salud Carlos III, Ctr Invest Biomed Red Fisiopatol Obesidad & Nutr, Madrid, Spain Hosp Infantil Univ Nino Jesus, Dept Pediat, Avda Menendez Pelayo 65, ES-28009 Madrid, SpainArgente, Jesus论文数: 0 引用数: 0 h-index: 0机构: Hosp Infantil Univ Nino Jesus, Dept Pediat, Avda Menendez Pelayo 65, ES-28009 Madrid, Spain Hosp Infantil Univ Nino Jesus, Dept Pediat Endocrinol, Avda Menendez Pelayo 65, ES-28009 Madrid, Spain La Princesa Res Inst, Madrid, Spain Univ Autonoma Madrid, Dept Pediat, Madrid, Spain Inst Salud Carlos III, Ctr Invest Biomed Red Fisiopatol Obesidad & Nutr, Madrid, Spain CEIUAM CSI, Food Inst, IMDEA, Madrid, Spain Hosp Infantil Univ Nino Jesus, Dept Pediat, Avda Menendez Pelayo 65, ES-28009 Madrid, Spain
- [3] Neurofibromas in LZTR1 schwannomatosisCLINICAL GENETICS, 2022, 101 (5-6) : 571 - 572Groen, Justus L.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Dept Neurosurg, Med Ctr, Leiden, Netherlands Leiden Univ, Dept Neurosurg, Med Ctr, Leiden, NetherlandsMoghadasi, Setareh论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Dept Clin Genet, Med Ctr, Leiden, Netherlands Leiden Univ, Dept Neurosurg, Med Ctr, Leiden, NetherlandsSpruijt, Liesbeth论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Dept Clin Genet, Med Ctr, Nijmegen, Netherlands Leiden Univ, Dept Neurosurg, Med Ctr, Leiden, NetherlandsKorpershoek, Esther论文数: 0 引用数: 0 h-index: 0机构: ErasmusMC, Dept Clin Genet, Rotterdam, Netherlands Leiden Univ, Dept Neurosurg, Med Ctr, Leiden, Netherlandsvan Ierland, Yvette论文数: 0 引用数: 0 h-index: 0机构: ErasmusMC, Dept Clin Genet, Rotterdam, Netherlands Leiden Univ, Dept Neurosurg, Med Ctr, Leiden, Netherlandsvan Wezel, J. Tom论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Dept Pathol, Med Ctr, Leiden, Netherlands Leiden Univ, Dept Neurosurg, Med Ctr, Leiden, Netherlands论文数: 引用数: h-index:机构:Malessy, Martijn J. A.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Dept Neurosurg, Med Ctr, Leiden, Netherlands Leiden Univ, Dept Neurosurg, Med Ctr, Leiden, NetherlandsLesnik Oberstein, Saskia A. J.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Dept Clin Genet, Med Ctr, Leiden, Netherlands Leiden Univ, Dept Neurosurg, Med Ctr, Leiden, Netherlands
- [4] A novel missense variant in the LZTR1 gene in a patient with an overlapping phenotype of autosomal dominant Noonan Syndrome and SchwannomatosisEUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 1127 - 1128Calosci, Davide论文数: 0 引用数: 0 h-index: 0机构: Univ Padua, Dept Womens & Childrens Hlth SDB, Padua, Italy Univ Padua, Dept Womens & Childrens Hlth SDB, Padua, ItalyPassaglia, Lisa论文数: 0 引用数: 0 h-index: 0机构: Univ Padua, Dept Womens & Childrens Hlth SDB, Padua, Italy Univ Padua, Dept Womens & Childrens Hlth SDB, Padua, ItalyCalo, Annapaola论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Padova, Clin Genet Unit, Padua, Italy Univ Padua, Dept Womens & Childrens Hlth SDB, Padua, ItalyRigon, Chiara论文数: 0 引用数: 0 h-index: 0机构: Univ Padua, Dept Womens & Childrens Hlth SDB, Padua, Italy Ist Ric Pediat, Fdn Citta Speranza, Padua, Italy Univ Padua, Dept Womens & Childrens Hlth SDB, Padua, ItalyAli, Dario Seif论文数: 0 引用数: 0 h-index: 0机构: AOU Marche, SOSD Genet Med & Coordinamento Malattie Rare, Ancona, Italy Univ Padua, Dept Womens & Childrens Hlth SDB, Padua, ItalyBertolin, Cinzia论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Padova, Clin Genet Unit, Padua, Italy Univ Padua, Dept Womens & Childrens Hlth SDB, Padua, ItalyTrevisson, Eva论文数: 0 引用数: 0 h-index: 0机构: Univ Padua, Dept Womens & Childrens Hlth SDB, Padua, Italy Univ Hosp Padova, Clin Genet Unit, Padua, Italy Ist Ric Pediat, Fdn Citta Speranza, Padua, Italy Univ Padua, Dept Womens & Childrens Hlth SDB, Padua, Italy
- [5] Expanding the mutational spectrum of LZTR1 in schwannomatosisEuropean Journal of Human Genetics, 2015, 23 : 963 - 968Irene Paganini论文数: 0 引用数: 0 h-index: 0机构: Medical Genetics,Department of Biomedical Experimental and Clinical SciencesVivian Y Chang论文数: 0 引用数: 0 h-index: 0机构: Medical Genetics,Department of Biomedical Experimental and Clinical SciencesGabriele L Capone论文数: 0 引用数: 0 h-index: 0机构: Medical Genetics,Department of Biomedical Experimental and Clinical SciencesJeremie Vitte论文数: 0 引用数: 0 h-index: 0机构: Medical Genetics,Department of Biomedical Experimental and Clinical SciencesMatteo Benelli论文数: 0 引用数: 0 h-index: 0机构: Medical Genetics,Department of Biomedical Experimental and Clinical SciencesLorenzo Barbetti论文数: 0 引用数: 0 h-index: 0机构: Medical Genetics,Department of Biomedical Experimental and Clinical SciencesRoberta Sestini论文数: 0 引用数: 0 h-index: 0机构: Medical Genetics,Department of Biomedical Experimental and Clinical SciencesEva Trevisson论文数: 0 引用数: 0 h-index: 0机构: Medical Genetics,Department of Biomedical Experimental and Clinical SciencesTheo JM Hulsebos论文数: 0 引用数: 0 h-index: 0机构: Medical Genetics,Department of Biomedical Experimental and Clinical SciencesMarco Giovannini论文数: 0 引用数: 0 h-index: 0机构: Medical Genetics,Department of Biomedical Experimental and Clinical SciencesStanley F Nelson论文数: 0 引用数: 0 h-index: 0机构: Medical Genetics,Department of Biomedical Experimental and Clinical SciencesLaura Papi论文数: 0 引用数: 0 h-index: 0机构: Medical Genetics,Department of Biomedical Experimental and Clinical Sciences
- [6] Expanding the mutational spectrum of LZTR1 in schwannomatosisEUROPEAN JOURNAL OF HUMAN GENETICS, 2015, 23 (07) : 963 - 968Paganini, Irene论文数: 0 引用数: 0 h-index: 0机构: Univ Florence, Dept Biomed Expt & Clin Sci, Med Genet, I-50139 Florence, Italy Univ Florence, Dept Biomed Expt & Clin Sci, Med Genet, I-50139 Florence, ItalyChang, Vivian Y.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, Dept Pediat, Div Hematol Oncol, Los Angeles, CA 90024 USA Univ Florence, Dept Biomed Expt & Clin Sci, Med Genet, I-50139 Florence, ItalyCapone, Gabriele L.论文数: 0 引用数: 0 h-index: 0机构: Univ Florence, Dept Biomed Expt & Clin Sci, Med Genet, I-50139 Florence, Italy FIORGEN Fdn Farmacogenom Polo Sci, Florence, Italy Univ Florence, Dept Biomed Expt & Clin Sci, Med Genet, I-50139 Florence, ItalyVitte, Jeremie论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, David Geffen Sch Med, Dept Head & Neck Surg, Los Angeles, CA 90095 USA Univ Florence, Dept Biomed Expt & Clin Sci, Med Genet, I-50139 Florence, ItalyBenelli, Matteo论文数: 0 引用数: 0 h-index: 0机构: Univ Careggi, Azienda Osped, Diagnost Genet Unit, Florence, Italy Univ Florence, Dept Biomed Expt & Clin Sci, Med Genet, I-50139 Florence, ItalyBarbetti, Lorenzo论文数: 0 引用数: 0 h-index: 0机构: Univ Florence, Dept Biomed Expt & Clin Sci, Med Genet, I-50139 Florence, Italy Univ Florence, Dept Biomed Expt & Clin Sci, Med Genet, I-50139 Florence, ItalySestini, Roberta论文数: 0 引用数: 0 h-index: 0机构: Univ Florence, Dept Biomed Expt & Clin Sci, Med Genet, I-50139 Florence, Italy Univ Florence, Dept Biomed Expt & Clin Sci, Med Genet, I-50139 Florence, ItalyTrevisson, Eva论文数: 0 引用数: 0 h-index: 0机构: Univ Padua, Clin Genet Unit, Dept Woman & Child Hlth, Padua, Italy Univ Florence, Dept Biomed Expt & Clin Sci, Med Genet, I-50139 Florence, ItalyHulsebos, Theo J. M.论文数: 0 引用数: 0 h-index: 0机构: Univ Amsterdam, Acad Med Ctr, Dept Genome Anal, NL-1105 AZ Amsterdam, Netherlands Univ Florence, Dept Biomed Expt & Clin Sci, Med Genet, I-50139 Florence, ItalyGiovannini, Marco论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, David Geffen Sch Med, Dept Head & Neck Surg, Los Angeles, CA 90095 USA Univ Florence, Dept Biomed Expt & Clin Sci, Med Genet, I-50139 Florence, ItalyNelson, Stanley F.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, Dept Human Genet Pathol & Lab Med & Psychiat, Los Angeles, CA USA Univ Florence, Dept Biomed Expt & Clin Sci, Med Genet, I-50139 Florence, ItalyPapi, Laura论文数: 0 引用数: 0 h-index: 0机构: Univ Florence, Dept Biomed Expt & Clin Sci, Med Genet, I-50139 Florence, Italy Univ Florence, Dept Biomed Expt & Clin Sci, Med Genet, I-50139 Florence, Italy
- [7] Mutations in LZTR1 add to the complex heterogeneity of schwannomatosisNEUROLOGY, 2015, 84 (02) : 141 - 147Smith, Miriam J.论文数: 0 引用数: 0 h-index: 0机构: Univ Manchester, Manchester Ctr Genom Med, Manchester M13 9PL, Lancs, England Univ Manchester, Manchester Ctr Genom Med, Manchester M13 9PL, Lancs, EnglandIsidor, Bertand论文数: 0 引用数: 0 h-index: 0机构: CHU Nantes, Serv Genet Med, Nantes, France Univ Manchester, Manchester Ctr Genom Med, Manchester M13 9PL, Lancs, EnglandBeetz, Christian论文数: 0 引用数: 0 h-index: 0机构: Univ Klinikum Jena, Inst Klin Chem & Labs Diag, Jena, Germany Univ Manchester, Manchester Ctr Genom Med, Manchester M13 9PL, Lancs, EnglandWilliams, Simon G.论文数: 0 引用数: 0 h-index: 0机构: Cent Manchester Univ Hosp NHS Fdn Trust, St Marys Hosp, Ctr Genom Med, Manchester, Lancs, England Univ Manchester, Manchester Ctr Genom Med, Manchester M13 9PL, Lancs, EnglandBhaskar, Sanjeev S.论文数: 0 引用数: 0 h-index: 0机构: Cent Manchester Univ Hosp NHS Fdn Trust, St Marys Hosp, Ctr Genom Med, Manchester, Lancs, England Univ Manchester, Manchester Ctr Genom Med, Manchester M13 9PL, Lancs, EnglandRicher, Wilfrid论文数: 0 引用数: 0 h-index: 0机构: INSERM, U830, Lab Genet & Biol Cancers, Paris, France Univ Manchester, Manchester Ctr Genom Med, Manchester M13 9PL, Lancs, EnglandO'Sullivan, James论文数: 0 引用数: 0 h-index: 0机构: Cent Manchester Univ Hosp NHS Fdn Trust, St Marys Hosp, Ctr Genom Med, Manchester, Lancs, England Univ Manchester, Manchester Ctr Genom Med, Manchester M13 9PL, Lancs, EnglandAnderson, Beverly论文数: 0 引用数: 0 h-index: 0机构: Cent Manchester Univ Hosp NHS Fdn Trust, St Marys Hosp, Ctr Genom Med, Manchester, Lancs, England Univ Manchester, Manchester Ctr Genom Med, Manchester M13 9PL, Lancs, EnglandDaly, Sarah B.论文数: 0 引用数: 0 h-index: 0机构: Cent Manchester Univ Hosp NHS Fdn Trust, St Marys Hosp, Ctr Genom Med, Manchester, Lancs, England Univ Manchester, Manchester Ctr Genom Med, Manchester M13 9PL, Lancs, EnglandUrquhart, Jill E.论文数: 0 引用数: 0 h-index: 0机构: Cent Manchester Univ Hosp NHS Fdn Trust, St Marys Hosp, Ctr Genom Med, Manchester, Lancs, England Univ Manchester, Manchester Ctr Genom Med, Manchester M13 9PL, Lancs, EnglandFryer, Alan论文数: 0 引用数: 0 h-index: 0机构: Alder Hey Childrens Hosp, Dept Clin Genet, Liverpool L12 2AP, Merseyside, England Univ Manchester, Manchester Ctr Genom Med, Manchester M13 9PL, Lancs, EnglandRustad, Cecilie F.论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Dept Med Genet, Oslo, Norway Univ Manchester, Manchester Ctr Genom Med, Manchester M13 9PL, Lancs, EnglandMills, Samantha J.论文数: 0 引用数: 0 h-index: 0机构: Univ Manchester, Biomed Imaging Inst, Manchester M13 9PL, Lancs, England Univ Manchester, Manchester Acad Hlth Sci Ctr, Manchester M13 9PL, Lancs, England Univ Manchester, Ctr Imaging Sci, Manchester M13 9PL, Lancs, England Univ Manchester, Manchester Ctr Genom Med, Manchester M13 9PL, Lancs, EnglandSamii, Amir论文数: 0 引用数: 0 h-index: 0机构: Int Neurosci Inst, Hannover, Germany Univ Manchester, Manchester Ctr Genom Med, Manchester M13 9PL, Lancs, Englanddu Plessis, Daniel论文数: 0 引用数: 0 h-index: 0机构: Salford Royal Hosp NHS Fdn Trust, Dept Cellular Pathol, Salford, Lancs, England Salford Royal Hosp NHS Fdn Trust, Greater Manchester Neurosci Ctr, Salford, Lancs, England Univ Manchester, Manchester Ctr Genom Med, Manchester M13 9PL, Lancs, EnglandHalliday, Dorothy论文数: 0 引用数: 0 h-index: 0机构: Oxford Radcliffe Hosp NHS Trust, Dept Clin Genet, Oxford, England Univ Manchester, Manchester Ctr Genom Med, Manchester M13 9PL, Lancs, EnglandBarbarot, Sebastien论文数: 0 引用数: 0 h-index: 0机构: CHU Nantes, Serv Dermatol, Nantes, France Univ Manchester, Manchester Ctr Genom Med, Manchester M13 9PL, Lancs, EnglandBourdeaut, Franck论文数: 0 引用数: 0 h-index: 0机构: INSERM, U830, Lab Genet & Biol Cancers, Paris, France Inst Curie, SIRIC, Paris, France Inst Curie, Dept Oncol Pediat Adolescents & Jeunes Adultes, Paris, France Univ Manchester, Manchester Ctr Genom Med, Manchester M13 9PL, Lancs, EnglandNewman, William G.论文数: 0 引用数: 0 h-index: 0机构: Univ Manchester, Manchester Ctr Genom Med, Manchester M13 9PL, Lancs, England Cent Manchester Univ Hosp NHS Fdn Trust, St Marys Hosp, Ctr Genom Med, Manchester, Lancs, England Univ Manchester, Manchester Ctr Genom Med, Manchester M13 9PL, Lancs, EnglandEvans, D. Gareth论文数: 0 引用数: 0 h-index: 0机构: Univ Manchester, Manchester Ctr Genom Med, Manchester M13 9PL, Lancs, England Cent Manchester Univ Hosp NHS Fdn Trust, St Marys Hosp, Ctr Genom Med, Manchester, Lancs, England Univ Manchester, Manchester Ctr Genom Med, Manchester M13 9PL, Lancs, England
- [8] Recessive and dominant patterns in Noonan Syndrome associated with LZTR1 variantsEUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 223 - 223Cambra, A.论文数: 0 引用数: 0 h-index: 0机构: Hosp Gen Univ Gregorio Maranon, Inst Invest Sanitaria Gregorio Maranon IiSGM, Dept Lab Med, Mol Diagnost Lab, Madrid, Spain Hosp Gen Univ Gregorio Maranon, Inst Invest Sanitaria Gregorio Maranon IiSGM, Dept Lab Med, Mol Diagnost Lab, Madrid, SpainLopez-Blazquez, M.论文数: 0 引用数: 0 h-index: 0机构: Hosp Gen Univ Gregorio Maranon, Dept Pediat, Pediat Cardiol, Madrid, Spain Hosp Gen Univ Gregorio Maranon, Inst Invest Sanitaria Gregorio Maranon IiSGM, Dept Lab Med, Mol Diagnost Lab, Madrid, SpainSanchez del Pozo, J.论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ 12 Octubre, Pediat Endocrinol, Dept Pediat, Madrid, Spain Hosp Gen Univ Gregorio Maranon, Inst Invest Sanitaria Gregorio Maranon IiSGM, Dept Lab Med, Mol Diagnost Lab, Madrid, SpainCruz-Rojo, J.论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ 12 Octubre, Pediat Endocrinol, Dept Pediat, Madrid, Spain Hosp Gen Univ Gregorio Maranon, Inst Invest Sanitaria Gregorio Maranon IiSGM, Dept Lab Med, Mol Diagnost Lab, Madrid, SpainGuemes, M.论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Nino Jesus, Pediat Endocrinol, Dept Pediat, Madrid, Spain Hosp Gen Univ Gregorio Maranon, Inst Invest Sanitaria Gregorio Maranon IiSGM, Dept Lab Med, Mol Diagnost Lab, Madrid, SpainCarcavilla, A.论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ La Paz, Pediat Endocrinol, Dept Pediat, Madrid, Spain Hosp Gen Univ Gregorio Maranon, Inst Invest Sanitaria Gregorio Maranon IiSGM, Dept Lab Med, Mol Diagnost Lab, Madrid, SpainSeidel, V.论文数: 0 引用数: 0 h-index: 0机构: Hosp Gen Univ Gregorio Maranon, Dept Pediat, Clin Genet, Madrid, Spain Hosp Gen Univ Gregorio Maranon, Inst Invest Sanitaria Gregorio Maranon IiSGM, Dept Lab Med, Mol Diagnost Lab, Madrid, SpainMedrano, C.论文数: 0 引用数: 0 h-index: 0机构: Hosp Gen Univ Gregorio Maranon, Dept Pediat, Pediat Cardiol, Madrid, Spain Hosp Gen Univ Gregorio Maranon, Inst Invest Sanitaria Gregorio Maranon IiSGM, Dept Lab Med, Mol Diagnost Lab, Madrid, SpainEzquieta, B.论文数: 0 引用数: 0 h-index: 0机构: Hosp Gen Univ Gregorio Maranon, Inst Invest Sanitaria Gregorio Maranon IiSGM, Dept Lab Med, Mol Diagnost Lab, Madrid, Spain Hosp Gen Univ Gregorio Maranon, Inst Invest Sanitaria Gregorio Maranon IiSGM, Dept Lab Med, Mol Diagnost Lab, Madrid, Spain
- [9] Providing more evidence on LZTR1 variants in Noonan syndrome patientsAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2020, 182 (02) : 409 - 414Chinton, Josefina论文数: 0 引用数: 0 h-index: 0机构: Hosp Pediat Garrahan, Serv Genet, Lab Biol Mol, Combate Pozos 1881, AR-1245 Buenos Aires, DF, Argentina Hosp Pediat Garrahan, Serv Genet, Lab Biol Mol, Combate Pozos 1881, AR-1245 Buenos Aires, DF, ArgentinaHuckstadt, Victoria论文数: 0 引用数: 0 h-index: 0机构: Hosp Pediat Garrahan, Serv Genet, Buenos Aires, DF, Argentina Hosp Pediat Garrahan, Serv Genet, Lab Biol Mol, Combate Pozos 1881, AR-1245 Buenos Aires, DF, ArgentinaMucciolo, Mafalda论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Pediat Hosp, Med Genet Lab, Med Genet Unit, Rome, Italy Hosp Pediat Garrahan, Serv Genet, Lab Biol Mol, Combate Pozos 1881, AR-1245 Buenos Aires, DF, ArgentinaLepri, Francesca论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Pediat Hosp, Med Genet Lab, Med Genet Unit, Rome, Italy Hosp Pediat Garrahan, Serv Genet, Lab Biol Mol, Combate Pozos 1881, AR-1245 Buenos Aires, DF, ArgentinaNovelli, Antonio论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Pediat Hosp, Med Genet Lab, Med Genet Unit, Rome, Italy Hosp Pediat Garrahan, Serv Genet, Lab Biol Mol, Combate Pozos 1881, AR-1245 Buenos Aires, DF, ArgentinaPablo Gravina, Luis论文数: 0 引用数: 0 h-index: 0机构: Hosp Pediat Garrahan, Serv Genet, Lab Biol Mol, Combate Pozos 1881, AR-1245 Buenos Aires, DF, Argentina Hosp Pediat Garrahan, Serv Genet, Lab Biol Mol, Combate Pozos 1881, AR-1245 Buenos Aires, DF, ArgentinaGabriela Obregon, Maria论文数: 0 引用数: 0 h-index: 0机构: Hosp Pediat Garrahan, Serv Genet, Buenos Aires, DF, Argentina Hosp Pediat Garrahan, Serv Genet, Lab Biol Mol, Combate Pozos 1881, AR-1245 Buenos Aires, DF, Argentina
- [10] Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variantsGENETICS IN MEDICINE, 2018, 20 (10) : 1175 - 1185Johnston, Jennifer J.论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USA Univ Med Ctr Utrecht, Dept Genet, Utrecht, Netherlands Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USAvan der Smagt, Jasper J.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Genet, Utrecht, Netherlands NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USARosenfeld, Jill 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 NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USAPagnamenta, Alistair T.论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Natl Inst Hlth Res, Wellcome Ctr Human Genet, Oxford Biomed Res Ctr, Oxford, England NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USAAlswaid, Abdulrahman论文数: 0 引用数: 0 h-index: 0机构: King Abdul Aziz Med City, Riyadh, Saudi Arabia NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USABaker, Eva H.论文数: 0 引用数: 0 h-index: 0机构: NIH, Dept Radiol & Imaging Serv, Bldg 10, Bethesda, MD 20892 USA NIH, Clin Ctr, Bldg 10, Bethesda, MD 20892 USA NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USABlair, Edward论文数: 0 引用数: 0 h-index: 0机构: Oxford Univ Hosp NHS Fdn Trust, Oxford Ctr Genom Med, Oxford, England NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USABorck, Guntram论文数: 0 引用数: 0 h-index: 0机构: Univ Ulm, Inst Human Genet, Ulm, Germany NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USABrinkmann, Julia论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp, Inst Human Genet, Magdeburg, Germany NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USACraigen, William论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USAVu Chi Dung论文数: 0 引用数: 0 h-index: 0机构: Natl Childrens Hosp, Dept Med Genet & Metab, Rare Dis & Newborn Screening Serv, Hanoi, Vietnam NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USAEmrick, Lisa论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Div Neurol & Dev Neurosci, Houston, TX 77030 USA Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USAEverman, David B.论文数: 0 引用数: 0 h-index: 0机构: Greenwood Genet Ctr, Greenwood, SC 29646 USA NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USAvan Gassen, Koen L.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Genet, Utrecht, Netherlands NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USAGulsuner, Suleyman论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Div Med Genet, Seattle, WA 98195 USA NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USAHarr, Margaret H.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USA NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USAJain, Mahim论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Johns Hopkins Med Inst, Kennedy Krieger Inst, Baltimore, MD 21205 USA Johns Hopkins Med Inst, Dept Pediat, Baltimore, MD 21205 USA NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USAKuechler, Alma论文数: 0 引用数: 0 h-index: 0机构: Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, Essen, Germany NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USALeppig, Kathleen A.论文数: 0 引用数: 0 h-index: 0机构: Kaiser Permanente Washington, Genet Serv, Seattle, WA USA NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USAMcDonald-McGinn, Donna M.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USA Univ Penn, Childrens Hosp Philadelphia, Dept Pediat, Philadelphia, PA 19104 USA Univ Penn, Perelman Sch Med, Philadelphia, PA 19104 USA NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USANgoc Thi Bich Can论文数: 0 引用数: 0 h-index: 0机构: Natl Childrens Hosp, Dept Med Genet & Metab, Rare Dis & Newborn Screening Serv, Hanoi, Vietnam NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USAPeleg, Amir论文数: 0 引用数: 0 h-index: 0机构: Carmel Hosp, Inst Human Genet, Haifa, Israel NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USARoeder, Elizabeth R.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Pediat & Mol & Human Genet, San Antonio, TX USA NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USARogers, R. Curtis论文数: 0 引用数: 0 h-index: 0机构: Greenwood Genet Ctr, Greenwood, SC 29646 USA NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USASagi-Dain, Lena论文数: 0 引用数: 0 h-index: 0机构: Carmel Hosp, Inst Human Genet, Haifa, Israel NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USASapp, Julie C.论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USA NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USASchaffer, Alejandro A.论文数: 0 引用数: 0 h-index: 0机构: NIH, Computat Biol Branch, Natl Ctr Biotechnol Informat, Bldg 10, Bethesda, MD 20892 USA NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USASchanze, Denny论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp, Inst Human Genet, Magdeburg, Germany NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USAStewart, Helen论文数: 0 引用数: 0 h-index: 0机构: Oxford Univ Hosp NHS Fdn Trust, Oxford Ctr Genom Med, Oxford, England NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USATaylor, Jenny C.论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Natl Inst Hlth Res, Wellcome Ctr Human Genet, Oxford Biomed Res Ctr, Oxford, England NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USAVerbeek, Nienke E.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Genet, Utrecht, Netherlands NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USAWalkiewicz, Magdalena 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 NIAID, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USAZackai, Elaine H.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USA Univ Penn, Childrens Hosp Philadelphia, Dept Pediat, Philadelphia, PA 19104 USA Univ Penn, Perelman Sch Med, Philadelphia, PA 19104 USA NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USAZweier, Christiane论文数: 0 引用数: 0 h-index: 0机构: Friedrich Alexander Univ Erlangen Nurnberg, Inst Human Genet, Erlangen, Germany NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USAZenker, Martin论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp, Inst Human Genet, Magdeburg, Germany NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USALee, Brendan论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USABiesecker, Leslie G.论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USA NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USA