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02115 USA Harvard Med Sch, Boston Childrens Hosp, Dept Med, Enders 561,300 Longwood Ave, Boston, MA 02115 USAConnaughton, Deryla M.论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston Childrens Hosp, Dept Med, Enders 561,300 Longwood Ave, Boston, MA 02115 USA Harvard Med Sch, Boston Childrens Hosp, Dept Med, Enders 561,300 Longwood Ave, Boston, MA 02115 USADai, Rufeng论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston Childrens Hosp, Dept Med, Enders 561,300 Longwood Ave, Boston, MA 02115 USA Harvard Med Sch, Boston Childrens Hosp, Dept Med, Enders 561,300 Longwood Ave, Boston, MA 02115 USAMann, Nina论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston Childrens Hosp, Dept Med, Enders 561,300 Longwood Ave, Boston, MA 02115 USA Harvard Med Sch, Boston Childrens Hosp, Dept Med, Enders 561,300 Longwood Ave, Boston, MA 02115 USANakayama, Makiko论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston Childrens Hosp, Dept Med, Enders 561,300 Longwood Ave, Boston, MA 02115 USA Harvard Med Sch, Boston Childrens Hosp, Dept Med, Enders 561,300 Longwood Ave, Boston, MA 02115 USAMajmundar, Amar J.论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston Childrens Hosp, Dept Med, Enders 561,300 Longwood Ave, Boston, MA 02115 USA Harvard Med Sch, Boston Childrens Hosp, Dept Med, Enders 561,300 Longwood Ave, Boston, MA 02115 USAWu, Chen-Han W.论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston Childrens Hosp, Dept Med, Enders 561,300 Longwood Ave, Boston, MA 02115 USA Harvard Med Sch, Boston Childrens Hosp, Dept Med, Enders 561,300 Longwood Ave, Boston, MA 02115 USAKari, Jameela A.论文数: 0 引用数: 0 h-index: 0机构: King Abdulaziz Univ, Fac Med, Pediat Nephrol Ctr Excellence, Jeddah, Saudi Arabia King Abdulaziz Univ, Fac Med, Pediat Dept, Jeddah, Saudi Arabia Harvard Med Sch, Boston Childrens Hosp, Dept Med, Enders 561,300 Longwood Ave, Boston, MA 02115 USAEl Desoky, Sherif M.论文数: 0 引用数: 0 h-index: 0机构: King Abdulaziz Univ, Fac Med, Pediat Nephrol Ctr Excellence, Jeddah, Saudi Arabia King Abdulaziz Univ, Fac Med, Pediat Dept, Jeddah, Saudi Arabia Harvard Med Sch, Boston Childrens Hosp, Dept Med, Enders 561,300 Longwood Ave, Boston, MA 02115 USASenguttuvan, Prabha论文数: 0 引用数: 0 h-index: 0机构: Dr Mehtas Multispecialty Hosp, Dept Pediat Nephrol, Chennai, Tamil Nadu, India Harvard Med Sch, Boston Childrens Hosp, Dept Med, Enders 561,300 Longwood Ave, Boston, MA 02115 USABogdanovic, Radovan论文数: 0 引用数: 0 h-index: 0机构: Inst Mother & Child Hlth Care, Dept Pediat Nephrol, Belgrade, Serbia Harvard Med Sch, Boston Childrens Hosp, Dept Med, Enders 561,300 Longwood Ave, Boston, MA 02115 USAStajic, Natasa论文数: 0 引用数: 0 h-index: 0机构: Inst Mother & Child Hlth Care, Dept Pediat Nephrol, Belgrade, Serbia Harvard Med Sch, Boston Childrens Hosp, Dept Med, Enders 561,300 Longwood Ave, Boston, MA 02115 USAValivullah, Zaheer论文数: 0 引用数: 0 h-index: 0机构: Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA Harvard Med Sch, Boston Childrens Hosp, Dept Med, Enders 561,300 Longwood Ave, Boston, MA 02115 USALek, Monkol论文数: 0 引用数: 0 h-index: 0机构: Yale Univ, Sch Med, Dept Genet, New Haven, CT 06510 USA Harvard Med Sch, Boston Childrens Hosp, Dept Med, Enders 561,300 Longwood Ave, Boston, MA 02115 USAMane, Shrikant论文数: 0 引用数: 0 h-index: 0机构: Yale Univ, Sch Med, Dept Genet, New Haven, CT 06510 USA Harvard Med Sch, Boston Childrens Hosp, Dept Med, Enders 561,300 Longwood Ave, Boston, MA 02115 USALifton, Richard P.论文数: 0 引用数: 0 h-index: 0机构: Yale Univ, Sch Med, Dept Genet, New Haven, CT 06510 USA Rockefeller Univ, Lab Human Genet & Genom, 1230 York Ave, New York, NY 10021 USA Harvard Med Sch, Boston Childrens Hosp, Dept Med, Enders 561,300 Longwood Ave, Boston, MA 02115 USATasic, Velibor论文数: 0 引用数: 0 h-index: 0机构: Univ Childrens Hosp, Med Fac Skopje, Skopje, Macedonia Harvard Med Sch, Boston Childrens Hosp, Dept Med, Enders 561,300 Longwood Ave, Boston, MA 02115 USAShril, Shirlee论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston Childrens Hosp, Dept Med, Enders 561,300 Longwood Ave, Boston, MA 02115 USA Harvard Med Sch, Boston Childrens Hosp, Dept Med, Enders 561,300 Longwood Ave, Boston, MA 02115 USAHildebrandt, Friedhelm论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston Childrens Hosp, Dept Med, Enders 561,300 Longwood Ave, Boston, MA 02115 USA Harvard Med Sch, Boston Childrens Hosp, Dept Med, Enders 561,300 Longwood Ave, Boston, MA 02115 USA
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- [37] COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humansHuman Genetics, 2019, 138 : 1105 - 1115Thomas M. Kitzler论文数: 0 引用数: 0 h-index: 0机构: Harvard Medical School,Department of Medicine, Boston Children’s Hospital, Enders 561Ronen Schneider论文数: 0 引用数: 0 h-index: 0机构: Harvard Medical School,Department of Medicine, Boston Children’s Hospital, Enders 561Stefan Kohl论文数: 0 引用数: 0 h-index: 0机构: Harvard Medical School,Department of Medicine, Boston Children’s Hospital, Enders 561Caroline M. Kolvenbach论文数: 0 引用数: 0 h-index: 0机构: Harvard Medical School,Department of Medicine, Boston Children’s Hospital, Enders 561Dervla M. Connaughton论文数: 0 引用数: 0 h-index: 0机构: Harvard Medical School,Department of Medicine, Boston Children’s Hospital, Enders 561Rufeng Dai论文数: 0 引用数: 0 h-index: 0机构: Harvard Medical School,Department of Medicine, Boston Children’s Hospital, Enders 561Nina Mann论文数: 0 引用数: 0 h-index: 0机构: Harvard Medical School,Department of Medicine, Boston Children’s Hospital, Enders 561Makiko Nakayama论文数: 0 引用数: 0 h-index: 0机构: Harvard Medical School,Department of Medicine, Boston Children’s Hospital, Enders 561Amar J. Majmundar论文数: 0 引用数: 0 h-index: 0机构: Harvard Medical School,Department of Medicine, Boston Children’s Hospital, Enders 561Chen-Han W. Wu论文数: 0 引用数: 0 h-index: 0机构: Harvard Medical School,Department of Medicine, Boston Children’s Hospital, Enders 561Jameela A. Kari论文数: 0 引用数: 0 h-index: 0机构: Harvard Medical School,Department of Medicine, Boston Children’s Hospital, Enders 561Sherif M. El Desoky论文数: 0 引用数: 0 h-index: 0机构: Harvard Medical School,Department of Medicine, Boston Children’s Hospital, Enders 561Prabha Senguttuvan论文数: 0 引用数: 0 h-index: 0机构: Harvard Medical School,Department of Medicine, Boston Children’s Hospital, Enders 561Radovan Bogdanovic论文数: 0 引用数: 0 h-index: 0机构: Harvard Medical School,Department of Medicine, Boston Children’s Hospital, Enders 561Natasa Stajic论文数: 0 引用数: 0 h-index: 0机构: Harvard Medical School,Department of Medicine, Boston Children’s Hospital, Enders 561Zaheer Valivullah论文数: 0 引用数: 0 h-index: 0机构: Harvard Medical School,Department of Medicine, Boston Children’s Hospital, Enders 561Monkol Lek论文数: 0 引用数: 0 h-index: 0机构: Harvard Medical School,Department of Medicine, Boston Children’s Hospital, Enders 561Shrikant Mane论文数: 0 引用数: 0 h-index: 0机构: Harvard Medical School,Department of Medicine, Boston Children’s Hospital, Enders 561Richard P. Lifton论文数: 0 引用数: 0 h-index: 0机构: Harvard Medical School,Department of Medicine, Boston Children’s Hospital, Enders 561Velibor Tasic论文数: 0 引用数: 0 h-index: 0机构: Harvard Medical School,Department of Medicine, Boston Children’s Hospital, Enders 561Shirlee Shril论文数: 0 引用数: 0 h-index: 0机构: Harvard Medical School,Department of Medicine, Boston Children’s Hospital, Enders 561Friedhelm Hildebrandt论文数: 0 引用数: 0 h-index: 0机构: Harvard Medical School,Department of Medicine, Boston Children’s Hospital, Enders 561
- [38] Neurologic phenotypes associated with COL4A1/2 mutations Expanding the spectrum of diseaseNEUROLOGY, 2018, 91 (22) : E2078 - E2088Zagaglia, Sara论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, Dept Clin & Expt Epilepsy, London, England Marche Polytech Univ Ancona, Clin Neurol, Dept Expt & Clin Med, Ancona, Italy UCL Inst Neurol, Dept Clin & Expt Epilepsy, London, EnglandSelch, Christina论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Augsburg, Dept Pediat Neurol & Neurol Rehabil, Augsburg, Germany Childrens Hosp Augsburg, Dept Pediat, Sch Klin Vogtareuth, Augsburg, Germany UCL Inst Neurol, Dept Clin & Expt Epilepsy, London, EnglandNisevic, Jelena Radic论文数: 0 引用数: 0 h-index: 0机构: UCL Great Ormond St Inst Child Hlth, London, England UCL Inst Neurol, Dept Clin & Expt Epilepsy, London, EnglandMei, Davide论文数: 0 引用数: 0 h-index: 0机构: Univ Florence, A Meyer Childrens Hosp, Paediat Neurol & Neurogenet Unit & Labs, Florence, Italy UCL Inst Neurol, Dept Clin & Expt Epilepsy, London, EnglandMichalak, Zuzanna论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, Dept Clin & Expt Epilepsy, London, England UCL Inst Neurol, Div Neuropathol, London, England Chalfont Ctr Epilepsy, Gerrards Cross, Bucks, England UCL Inst Neurol, Dept Clin & Expt Epilepsy, London, EnglandHernandez-Hernandez, Laura论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, Dept Clin & Expt Epilepsy, London, England Chalfont Ctr Epilepsy, Gerrards Cross, Bucks, England UCL Inst Neurol, Dept Clin & Expt Epilepsy, London, EnglandKrithika, S.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, Dept Clin & Expt Epilepsy, London, England Chalfont Ctr Epilepsy, Gerrards Cross, Bucks, England UCL Inst Neurol, Dept Clin & Expt Epilepsy, London, EnglandVezyroglou, Katharina论文数: 0 引用数: 0 h-index: 0机构: UCL Great Ormond St Inst Child Hlth, London, England UCL Inst Neurol, Dept Clin & Expt Epilepsy, London, EnglandVaradkar, Sophia M.论文数: 0 引用数: 0 h-index: 0机构: UCL Great Ormond St Inst Child Hlth, London, England UCL Inst Neurol, Dept Clin & Expt Epilepsy, London, EnglandPepler, Alexander论文数: 0 引用数: 0 h-index: 0机构: CeGaT Ctr Genom & Transcript, Tubingen, Germany UCL Inst Neurol, Dept Clin & Expt Epilepsy, London, EnglandBiskup, Saskia论文数: 0 引用数: 0 h-index: 0机构: CeGaT Ctr Genom & Transcript, Tubingen, Germany UCL Inst Neurol, Dept Clin & Expt Epilepsy, London, EnglandLeao, Miguel论文数: 0 引用数: 0 h-index: 0机构: Hosp Sao Joao, Dept Med Genet, Neurogenet Unit, Porto, Portugal UCL Inst Neurol, Dept Clin & Expt Epilepsy, London, EnglandGaertner, Jutta论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Gottingen, Dept Pediat & Adolescent Med, Leipzig, Germany UCL Inst Neurol, Dept Clin & Expt Epilepsy, London, EnglandMerkenschlager, Andreas论文数: 0 引用数: 0 h-index: 0机构: Univ Clin Leipzig, Hosp Children & Adolescents, Leipzig, Germany UCL Inst Neurol, Dept Clin & Expt Epilepsy, London, EnglandJaksch, Michaela论文数: 0 引用数: 0 h-index: 0机构: Freiburg Med Lab, Dubai, U Arab Emirates UCL Inst Neurol, Dept Clin & Expt Epilepsy, London, EnglandMoller, Rikke S.论文数: 0 引用数: 0 h-index: 0机构: Danish Epilepsy Ctr, Dianalund, Denmark Univ Southern Denmark, Inst Reg Hlth Serv, Odense, Denmark UCL Inst Neurol, Dept Clin & Expt Epilepsy, London, England论文数: 引用数: h-index:机构:Kristiansen, Britta Schlott论文数: 0 引用数: 0 h-index: 0机构: Odense Univ Hosp, Dept Clin Genet, Odense, Denmark UCL Inst Neurol, Dept Clin & Expt Epilepsy, London, EnglandHansen, Lars Kjaersgaard论文数: 0 引用数: 0 h-index: 0机构: Hans Christian Andersen Childrens Hosp, Odense, Denmark UCL Inst Neurol, Dept Clin & Expt Epilepsy, London, EnglandVari, Maria Stella论文数: 0 引用数: 0 h-index: 0机构: Univ Genoa, G Gaslini Inst, Pediat Neurol & Muscular Dis Unit, Dept Neurosci Rehabil Ophthalmol Genet & Maternal, Genoa, Italy UCL Inst Neurol, Dept Clin & Expt Epilepsy, London, EnglandHelbig, Katherine L.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Neurol, Philadelphia, PA 19104 USA UCL Inst Neurol, Dept Clin & Expt Epilepsy, London, EnglandDesai, Sonal论文数: 0 引用数: 0 h-index: 0机构: Kennedy Krieger Inst, Dept Neurol, Div Neurogenet, Baltimore, MD USA UCL Inst Neurol, Dept Clin & Expt Epilepsy, London, EnglandSmith-Hicks, Constance L.论文数: 0 引用数: 0 h-index: 0机构: Kennedy Krieger Inst, Dept Neurol, Div Neurogenet, Baltimore, MD USA UCL Inst Neurol, Dept Clin & Expt Epilepsy, London, EnglandHino-Fukuyo, Naomi论文数: 0 引用数: 0 h-index: 0机构: Tohoku Univ, Ctr Genom Med, Sendai, Miyagi, Japan Tohoku Univ, Sch Med, Dept Pediat, Sendai, Miyagi, Japan UCL Inst Neurol, Dept Clin & Expt Epilepsy, London, EnglandTalvik, Tiina论文数: 0 引用数: 0 h-index: 0机构: Univ Tartu, Dept Pediat, Tartu, Estonia Tartu Univ Hosp, Childrens Clin, Tartu, Estonia UCL Inst Neurol, Dept Clin & Expt Epilepsy, London, England论文数: 引用数: h-index:机构:Ilves, Pilvi论文数: 0 引用数: 0 h-index: 0机构: Tartu Univ Hosp, Dept Radiol, Tartu, Estonia UCL Inst Neurol, Dept Clin & Expt Epilepsy, London, England论文数: 引用数: h-index:机构:Koerber, Ingrid论文数: 0 引用数: 0 h-index: 0机构: Ludwig Maximilians Univ Munchen, Munich, Germany UCL Inst Neurol, Dept Clin & Expt Epilepsy, London, EnglandHartlieb, Till论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Augsburg, Dept Pediat Neurol & Neurol Rehabil, Augsburg, Germany UCL Inst Neurol, Dept Clin & Expt Epilepsy, London, EnglandKudernatsch, Manfred论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Augsburg, Neurosurg Clin, Augsburg, Germany Childrens Hosp Augsburg, Clin Epilepsy Surg, Augsburg, Germany UCL Inst Neurol, Dept Clin & Expt Epilepsy, London, EnglandWinkler, Peter论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Augsburg, Dept Pediat Neurol & Neurol Rehabil, Augsburg, Germany UCL Inst Neurol, Dept Clin & Expt Epilepsy, London, EnglandSchimmel, Mareike论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Augsburg, Dept Pediat, Sch Klin Vogtareuth, Augsburg, Germany UCL Inst Neurol, Dept Clin & Expt Epilepsy, London, EnglandHasse, Anette论文数: 0 引用数: 0 h-index: 0机构: Dr Horst Schmidt Klin, Dept Pediat Neurol, Clin Traunstein, Wiesbaden, Germany UCL Inst Neurol, Dept Clin & Expt Epilepsy, London, EnglandKnuf, Markus论文数: 0 引用数: 0 h-index: 0机构: Dr Horst Schmidt Klin, Childrens Hosp, Wiesbaden, Germany UCL Inst Neurol, Dept Clin & Expt Epilepsy, London, EnglandHeinemeyer, Jan论文数: 0 引用数: 0 h-index: 0机构: Altona Childrens Hosp, Hamburg, Germany UCL Inst Neurol, Dept Clin & Expt Epilepsy, London, EnglandMakowski, Christine论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Dept Pediat, Munich, Germany UCL Inst Neurol, Dept Clin & Expt Epilepsy, London, EnglandGhedia, Sondhya论文数: 0 引用数: 0 h-index: 0机构: Royal North Shore Hosp, Dept Clin Genet, St Leonards, NSW, Australia UCL Inst Neurol, Dept Clin & Expt Epilepsy, London, EnglandSubramanian, Gopinath M.论文数: 0 引用数: 0 h-index: 0机构: John Hunter Childrens Hosp, New Lambton Hts, NSW, Australia UCL Inst Neurol, Dept Clin & Expt Epilepsy, London, EnglandStriano, Pasquale论文数: 0 引用数: 0 h-index: 0机构: Univ Genoa, G Gaslini Inst, Pediat Neurol & Muscular Dis Unit, Dept Neurosci Rehabil Ophthalmol Genet & Maternal, Genoa, Italy UCL Inst Neurol, Dept Clin & Expt 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