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- [1] 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
- [2] 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
- [3] Noonan syndrome associated with growth hormone deficiency with biallelic LZTR1 variantsGENETICS IN MEDICINE, 2019, 21 (01) : 260 - 260Nakaguma, Marilena论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Unidade Endocrinol Desenvolvimento, Lab Hormonios & Genet Mol LIM42, Hosp Clin,Disciplina Endocrinol,Fac Med, Sao Paulo, Brazil Univ Sao Paulo, Unidade Endocrinol Desenvolvimento, Lab Hormonios & Genet Mol LIM42, Hosp Clin,Disciplina Endocrinol,Fac Med, Sao Paulo, BrazilJorge, Alexander A. L.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Unidade Endocrinol Genet, Lab Endocrinol Celular & Mol LIM25, Hosp Clin,Disciplina Endocrinol,Fac Med, Sao Paulo, Brazil Univ Sao Paulo, Unidade Endocrinol Desenvolvimento, Lab Hormonios & Genet Mol LIM42, Hosp Clin,Disciplina Endocrinol,Fac Med, Sao Paulo, BrazilArnhold, Ivo J. P.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Unidade Endocrinol Desenvolvimento, Lab Hormonios & Genet Mol LIM42, Hosp Clin,Disciplina Endocrinol,Fac Med, Sao Paulo, Brazil Univ Sao Paulo, Unidade Endocrinol Desenvolvimento, Lab Hormonios & Genet Mol LIM42, Hosp Clin,Disciplina Endocrinol,Fac Med, Sao Paulo, Brazil
- [4] Rare variants in SOS2 and LZTR1 are associated with Noonan syndromeJOURNAL OF MEDICAL GENETICS, 2015, 52 (06) : 413 - 421Yamamoto, Guilherme Lopes论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Fac Med, Unidade Genet, Inst Crianca,Hosp Clin, BR-05403000 Sao Paulo, SP, Brazil Univ Sao Paulo, Inst Biociencias, Ctr Pesquisa Genoma Humano & Celulas Tronco, BR-05403000 Sao Paulo, SP, Brazil Univ Sao Paulo, Fac Med, Unidade Genet, Inst Crianca,Hosp Clin, BR-05403000 Sao Paulo, SP, BrazilAguena, Meire论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Inst Biociencias, Ctr Pesquisa Genoma Humano & Celulas Tronco, BR-05403000 Sao Paulo, SP, Brazil Univ Sao Paulo, Fac Med, Unidade Genet, Inst Crianca,Hosp Clin, BR-05403000 Sao Paulo, SP, BrazilGos, Monika论文数: 0 引用数: 0 h-index: 0机构: Inst Mother & Child Hlth, Dept Med Genet, Warsaw, Poland Univ Sao Paulo, Fac Med, Unidade Genet, Inst Crianca,Hosp Clin, BR-05403000 Sao Paulo, SP, BrazilHung, Christina论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Dept Med, Div Genet & Genom, Boston, MA USA Univ Sao Paulo, Fac Med, Unidade Genet, Inst Crianca,Hosp Clin, BR-05403000 Sao Paulo, SP, BrazilPilch, Jacek论文数: 0 引用数: 0 h-index: 0机构: Med Univ Silesia, Dept Child Neurol, Katowice, Poland Univ Sao Paulo, Fac Med, Unidade Genet, Inst Crianca,Hosp Clin, BR-05403000 Sao Paulo, SP, BrazilFahiminiya, Somayyeh论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Dept Human Genet, Montreal, PQ, Canada Univ Sao Paulo, Fac Med, Unidade Genet, Inst Crianca,Hosp Clin, BR-05403000 Sao Paulo, SP, BrazilAbramowicz, Anna论文数: 0 引用数: 0 h-index: 0机构: Inst Mother & Child Hlth, Dept Med Genet, Warsaw, Poland Univ Sao Paulo, Fac Med, Unidade Genet, Inst Crianca,Hosp Clin, BR-05403000 Sao Paulo, SP, BrazilCristian, Ingrid论文数: 0 引用数: 0 h-index: 0机构: Nemours Childrens Hosp Orlando, Orlando, FL USA Univ Sao Paulo, Fac Med, Unidade Genet, Inst Crianca,Hosp Clin, BR-05403000 Sao Paulo, SP, BrazilBuscarilli, Michelle论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Fac Med, Unidade Genet, Inst Crianca,Hosp Clin, BR-05403000 Sao Paulo, SP, Brazil Univ Sao Paulo, Fac Med, Unidade Genet, Inst Crianca,Hosp Clin, BR-05403000 Sao Paulo, SP, BrazilNaslavsky, Michel Satya论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Inst Biociencias, Ctr Pesquisa Genoma Humano & Celulas Tronco, BR-05403000 Sao Paulo, SP, Brazil Univ Sao Paulo, Fac Med, Unidade Genet, Inst Crianca,Hosp Clin, BR-05403000 Sao Paulo, SP, BrazilMalaquias, Alexsandra C.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Fac Med, Hosp Clin, Dept Endocrinol, BR-05403000 Sao Paulo, SP, Brazil Univ Sao Paulo, Fac Med, Unidade Genet, Inst Crianca,Hosp Clin, BR-05403000 Sao Paulo, SP, BrazilZatz, Mayana论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Inst Biociencias, Ctr Pesquisa Genoma Humano & Celulas Tronco, BR-05403000 Sao Paulo, SP, Brazil Univ Sao Paulo, Fac Med, Unidade Genet, Inst Crianca,Hosp Clin, BR-05403000 Sao Paulo, SP, BrazilBodamer, Olaf论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Dept Med, Div Genet & Genom, Boston, MA USA Univ Sao Paulo, Fac Med, Unidade Genet, Inst Crianca,Hosp Clin, BR-05403000 Sao Paulo, SP, BrazilMajewski, Jacek论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Dept Human Genet, Montreal, PQ, Canada Univ Sao Paulo, Fac Med, Unidade Genet, Inst Crianca,Hosp Clin, BR-05403000 Sao Paulo, SP, BrazilJorge, Alexander A. L.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Fac Med, Hosp Clin, Dept Endocrinol, BR-05403000 Sao Paulo, SP, Brazil Univ Sao Paulo, Fac Med, Unidade Genet, Inst Crianca,Hosp Clin, BR-05403000 Sao Paulo, SP, BrazilPereira, Alexandre C.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Fac Med, Hosp Clin, Inst Cardiol, BR-05403000 Sao Paulo, SP, Brazil Univ Sao Paulo, Fac Med, Unidade Genet, Inst Crianca,Hosp Clin, BR-05403000 Sao Paulo, SP, BrazilKim, Chong Ae论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Fac Med, Unidade Genet, Inst Crianca,Hosp Clin, BR-05403000 Sao Paulo, SP, Brazil Univ Sao Paulo, Fac Med, Unidade Genet, Inst Crianca,Hosp Clin, BR-05403000 Sao Paulo, SP, BrazilPassos-Bueno, Maria Rita论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Inst Biociencias, Ctr Pesquisa Genoma Humano & Celulas Tronco, BR-05403000 Sao Paulo, SP, Brazil Univ Sao Paulo, Fac Med, Unidade Genet, Inst Crianca,Hosp Clin, BR-05403000 Sao Paulo, SP, BrazilBertola, Debora Romeo论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Fac Med, Unidade Genet, Inst Crianca,Hosp Clin, BR-05403000 Sao Paulo, SP, Brazil Univ Sao Paulo, Inst Biociencias, Ctr Pesquisa Genoma Humano & Celulas Tronco, BR-05403000 Sao Paulo, SP, Brazil Univ Sao Paulo, Fac Med, Unidade Genet, Inst Crianca,Hosp Clin, BR-05403000 Sao Paulo, SP, Brazil
- [5] Noonan syndrome associated with growth hormone deficiency with biallelic LZTR1 variants ResponseGENETICS IN MEDICINE, 2019, 21 (01) : 261 - 261Biesecker, Leslie G.论文数: 0 引用数: 0 h-index: 0机构: NHGRI, NIH, Bethesda, MD 20892 USA NHGRI, NIH, Bethesda, MD 20892 USA
- [6] Two Novel Cases of Autosomal Recessive Noonan Syndrome Associated With LZTR1 VariantsREVISTA ESPANOLA DE CARDIOLOGIA, 2019, 72 (11): : 978 - 980Perin, Francesca论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Virgen Nieves, Unidad Cardiol Pediat, Granada, Spain Hosp Univ Virgen Nieves, Unidad Cardiol Pediat, Granada, SpainPablo Trujillo-Quintero, Juan论文数: 0 引用数: 0 h-index: 0机构: Inst Invest Biomed A Coruna INIBIC, La Coruna, Spain Hlth Code, Dept Clin, La Coruna, Spain Hosp Univ Virgen Nieves, Unidad Cardiol Pediat, Granada, SpainJimenez-Jaimez, Juan论文数: 0 引用数: 0 h-index: 0机构: Univ Virgen Nieves, Serv Cardiol Hosp, Unidad Arritmias, Granada, Spain Hosp Univ Virgen Nieves, Unidad Cardiol Pediat, Granada, SpainRodriguez-Vazquez del Rey, Maria del Mar论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Virgen Nieves, Unidad Cardiol Pediat, Granada, Spain Hosp Univ Virgen Nieves, Unidad Cardiol Pediat, Granada, SpainMonserrat, Lorenzo论文数: 0 引用数: 0 h-index: 0机构: Inst Invest Biomed A Coruna INIBIC, La Coruna, Spain Hlth Code, Dept Clin, La Coruna, Spain Hosp Univ Virgen Nieves, Unidad Cardiol Pediat, Granada, SpainTercedor, Luis论文数: 0 引用数: 0 h-index: 0机构: Univ Virgen Nieves, Serv Cardiol Hosp, Unidad Arritmias, Granada, Spain Hosp Univ Virgen Nieves, Unidad Cardiol Pediat, Granada, Spain
- [7] 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
- [8] NOVEL LZTR1 GENE VARIANTS ASSOCIATED TO NOONAN SYNDROME AND GROWTH HORMONE DEFICIENCYHORMONE RESEARCH IN PAEDIATRICS, 2017, 88 : 151 - 152Nakaguma, Marilena论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Med Sch, Sao Paulo, Brazil Univ Sao Paulo, Med Sch, Sao Paulo, BrazilJorge, Alexander A. L.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Fac Med, Sao Paulo, Brazil Univ Sao Paulo, Med Sch, Sao Paulo, BrazilMariana, Funari F. A.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Fac Med, Sao Paulo, Brazil Univ Sao Paulo, Med Sch, Sao Paulo, Brazil论文数: 引用数: h-index:机构:Fernanda, Correa A.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Fac Med, Sao Paulo, Brazil Univ Sao Paulo, Med Sch, Sao Paulo, BrazilLuciani, Carvalho R. S.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Fac Med, Sao Paulo, Brazil Univ Sao Paulo, Med Sch, Sao Paulo, BrazilBerenice, Mendonca B.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Fac Med, Sao Paulo, Brazil Univ Sao Paulo, Med Sch, Sao Paulo, BrazilArnhold, Ivo J.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Med Sch, Sao Paulo, Brazil Univ Sao Paulo, Med Sch, Sao Paulo, Brazil
- [9] 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
- [10] Noonan syndrome-associated biallelic LZTR1 mutations cause cardiac hypertrophy and vascular malformations in zebrafishMOLECULAR GENETICS & GENOMIC MEDICINE, 2020, 8 (03):Nakagama, Yu论文数: 0 引用数: 0 h-index: 0机构: Univ Tokyo, Dept Pediat, Grad Sch Med, Tokyo, Japan Osaka City Univ, Grad Sch Med, Dept Parasitol, Osaka, Japan Univ Tokyo, Dept Pediat, Grad Sch Med, Tokyo, JapanTakeda, Norihiko论文数: 0 引用数: 0 h-index: 0机构: Univ Tokyo, Grad Sch Med, Dept Cardiovasc Med, Tokyo, Japan Univ Tokyo, Dept Pediat, Grad Sch Med, Tokyo, Japan论文数: 引用数: h-index:机构:Takeda, Hiroyuki论文数: 0 引用数: 0 h-index: 0机构: Univ Tokyo, Grad Sch Sci, Dept Biol Sci, Tokyo, Japan Univ Tokyo, Dept Pediat, Grad Sch Med, Tokyo, JapanFurutani, Yoshiyuki论文数: 0 引用数: 0 h-index: 0机构: Tokyo Womens Med Univ, Dept Pediat Cardiol & Adult Congenital Cardiol, Tokyo, Japan Univ Tokyo, Dept Pediat, Grad Sch Med, Tokyo, JapanNakanishi, Toshio论文数: 0 引用数: 0 h-index: 0机构: Tokyo Womens Med Univ, Dept Pediat Cardiol & Adult Congenital Cardiol, Tokyo, Japan Univ Tokyo, Dept Pediat, Grad Sch Med, Tokyo, JapanSato, Tatsuyuki论文数: 0 引用数: 0 h-index: 0机构: Univ Tokyo, Grad Sch Med, Dept Cardiovasc Med, Tokyo, Japan Univ Tokyo, Dept Pediat, Grad Sch Med, Tokyo, JapanHirata, Yoichiro论文数: 0 引用数: 0 h-index: 0机构: Univ Tokyo, Dept Pediat, Grad Sch Med, Tokyo, Japan Univ Tokyo, Dept Pediat, Grad Sch Med, Tokyo, JapanOka, Akira论文数: 0 引用数: 0 h-index: 0机构: Univ Tokyo, Dept Pediat, Grad Sch Med, Tokyo, Japan Univ Tokyo, Dept Pediat, Grad Sch Med, Tokyo, Japan论文数: 引用数: h-index:机构: