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- [21] A patient with Down syndrome with a de novo derivative chromosome 21GENE, 2012, 507 (02) : 159 - 164Cetin, Zafer论文数: 0 引用数: 0 h-index: 0机构: Akdeniz Univ, Fac Med, Dept Med Biol & Genet, TR-07058 Antalya, Turkey Akdeniz Univ, Fac Med, Dept Med Biol & Genet, TR-07058 Antalya, TurkeyYakut, Sezin论文数: 0 引用数: 0 h-index: 0机构: Akdeniz Univ, Fac Med, Dept Med Biol & Genet, TR-07058 Antalya, Turkey Akdeniz Univ, Fac Med, Dept Med Biol & Genet, TR-07058 Antalya, TurkeyMihci, Ercan论文数: 0 引用数: 0 h-index: 0机构: Akdeniz Univ, Fac Med, Dept Pediat Genet, TR-07058 Antalya, Turkey Akdeniz Univ, Fac Med, Dept Med Biol & Genet, TR-07058 Antalya, TurkeyManguoglu, Ayse Esra论文数: 0 引用数: 0 h-index: 0机构: Akdeniz Univ, Fac Med, Dept Med Biol & Genet, TR-07058 Antalya, Turkey Akdeniz Univ, Fac Med, Dept Med Biol & Genet, TR-07058 Antalya, TurkeyBerker, Sibel论文数: 0 引用数: 0 h-index: 0机构: Akdeniz Univ, Fac Med, Dept Med Biol & Genet, TR-07058 Antalya, Turkey Akdeniz Univ, Fac Med, Dept Med Biol & Genet, TR-07058 Antalya, TurkeyKeser, Ibrahim论文数: 0 引用数: 0 h-index: 0机构: Akdeniz Univ, Fac Med, Dept Med Biol & Genet, TR-07058 Antalya, Turkey Akdeniz Univ, Fac Med, Dept Med Biol & Genet, TR-07058 Antalya, TurkeyLuleci, Guven论文数: 0 引用数: 0 h-index: 0机构: Akdeniz Univ, Fac Med, Dept Med Biol & Genet, TR-07058 Antalya, Turkey Akdeniz Univ, Fac Med, Dept Med Biol & Genet, TR-07058 Antalya, Turkey
- [22] Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorderHUMAN MUTATION, 2021, 42 (09) : 1094 - 1100Semino, Francesca论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Heidelberg, Ctr Pediat & Adolescent Med, Div Pediat Epileptol, Neuenheimer Feld 430, D-69120 Heidelberg, Germany Heidelberg Univ, Inst Physiol & Pathophysiol, Heidelberg, Germany Univ Hosp Heidelberg, Ctr Pediat & Adolescent Med, Div Pediat Epileptol, Neuenheimer Feld 430, D-69120 Heidelberg, GermanySchroeter, Julian论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Heidelberg, Ctr Pediat & Adolescent Med, Div Pediat Epileptol, Neuenheimer Feld 430, D-69120 Heidelberg, Germany Univ Hosp Heidelberg, Ctr Pediat & Adolescent Med, Div Pediat Epileptol, Neuenheimer Feld 430, D-69120 Heidelberg, GermanyWillemsen, Marjolein H.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands Univ Hosp Heidelberg, Ctr Pediat & Adolescent Med, Div Pediat Epileptol, Neuenheimer Feld 430, D-69120 Heidelberg, GermanyBast, Thomas论文数: 0 引用数: 0 h-index: 0机构: Epilepsy Ctr Kork, Kehl, Germany Univ Freiburg, Med Fac, Kehl, Germany Univ Hosp Heidelberg, Ctr Pediat & Adolescent Med, Div Pediat Epileptol, Neuenheimer Feld 430, D-69120 Heidelberg, GermanyBiskup, Saskia论文数: 0 引用数: 0 h-index: 0机构: Praxis Humangenet Tubingen, Tubingen, Germany CEGAT GmbH, Tubingen, Germany Univ Hosp Heidelberg, Ctr Pediat & Adolescent Med, Div Pediat Epileptol, Neuenheimer Feld 430, D-69120 Heidelberg, GermanyBeck-Woedl, Stefanie论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Inst Med Genet & Appl Genom, Tubingen, Germany Univ Hosp Heidelberg, Ctr Pediat & Adolescent Med, Div Pediat Epileptol, Neuenheimer Feld 430, D-69120 Heidelberg, GermanyBrennenstuhl, Heiko论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Heidelberg, Ctr Pediat & Adolescent Med, Div Neuropediat & Inherited Metab Dis, Heidelberg, Germany Univ Hosp Heidelberg, Ctr Pediat & Adolescent Med, Div Pediat Epileptol, Neuenheimer Feld 430, D-69120 Heidelberg, GermanySchaaf, Christian P.论文数: 0 引用数: 0 h-index: 0机构: Heidelberg Univ, Inst Human Genet, Heidelberg, Germany Univ Hosp Heidelberg, Ctr Pediat & Adolescent Med, Div Pediat Epileptol, Neuenheimer Feld 430, D-69120 Heidelberg, GermanyKoelker, Stefan论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Heidelberg, Ctr Pediat & Adolescent Med, Div Neuropediat & Inherited Metab Dis, Heidelberg, Germany Univ Hosp Heidelberg, Ctr Pediat & Adolescent Med, Div Pediat Epileptol, Neuenheimer Feld 430, D-69120 Heidelberg, GermanyHoffmann, Georg F.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Heidelberg, Ctr Pediat & Adolescent Med, Div Neuropediat & Inherited Metab Dis, Heidelberg, Germany Univ Hosp Heidelberg, Ctr Pediat & Adolescent Med, Div Pediat Epileptol, Neuenheimer Feld 430, D-69120 Heidelberg, GermanyHaack, Tobias B.论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Inst Med Genet & Appl Genom, Tubingen, Germany Univ Tubingen, Ctr Rare Dis, Tubingen, Germany Univ Hosp Heidelberg, Ctr Pediat & Adolescent Med, Div Pediat Epileptol, Neuenheimer Feld 430, D-69120 Heidelberg, GermanySyrbe, Steffen论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Heidelberg, Ctr Pediat & Adolescent Med, Div Pediat Epileptol, Neuenheimer Feld 430, D-69120 Heidelberg, Germany Univ Hosp Heidelberg, Ctr Pediat & Adolescent Med, Div Pediat Epileptol, Neuenheimer Feld 430, D-69120 Heidelberg, Germany
- [23] De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonusBRAIN, 2022, 145 (01) : 208 - 223Galosi, Serena论文数: 0 引用数: 0 h-index: 0机构: Sapienza Univ, Dept Human Neurosci, I-00185 Rome, Italy Sapienza Univ, Dept Human Neurosci, I-00185 Rome, ItalyEdani, Ban H.论文数: 0 引用数: 0 h-index: 0机构: Yale Univ, Vasc Biol & Therapeut Program, Sch Med, New Haven, CT 06520 USA Yale Univ, Dept Pharmacol, Sch Med, New Haven, CT 06520 USA Sapienza Univ, Dept Human Neurosci, I-00185 Rome, ItalyMartinelli, Simone论文数: 0 引用数: 0 h-index: 0机构: Ist Super Sanita, Dept Oncol & Mol Med, I-00161 Rome, Italy Sapienza Univ, Dept Human Neurosci, I-00185 Rome, ItalyHansikova, Hana论文数: 0 引用数: 0 h-index: 0机构: Charles Univ Prague, Fac Med 1, Dept Pediat & Inherited Metab Disorders, Prague 12808, Czech Republic Gen Univ Hosp Prague, Prague 12808, Czech Republic Sapienza Univ, Dept Human Neurosci, I-00185 Rome, ItalyEklund, Erik A.论文数: 0 引用数: 0 h-index: 0机构: Lund Univ, Dept Clin Sci, Sect Pediat, S-22184 Lund, Sweden Sapienza Univ, Dept Human Neurosci, I-00185 Rome, ItalyCaputi, Caterina论文数: 0 引用数: 0 h-index: 0机构: Sapienza Univ, Dept Human Neurosci, I-00185 Rome, Italy Sapienza Univ, Dept Human Neurosci, I-00185 Rome, ItalyMasuelli, Laura论文数: 0 引用数: 0 h-index: 0机构: Sapienza Univ, Dept Expt Med, I-00161 Rome, Italy Sapienza Univ, Dept Human Neurosci, I-00185 Rome, ItalyCorsten-Janssen, Nicole论文数: 0 引用数: 0 h-index: 0机构: Univ Groningen, Univ Med Ctr Groningen, Dept Genet, NL-9700 Groningen, Netherlands Sapienza Univ, Dept Human Neurosci, I-00185 Rome, ItalySrour, Myriam论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Dept Pediat, Montreal, PQ H4A 3J1, Canada McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ H4A 3J1, Canada Sapienza Univ, Dept Human Neurosci, I-00185 Rome, ItalyOegema, Renske论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Genet, NL-3584 CX Utrecht, Netherlands Sapienza Univ, Dept Human Neurosci, I-00185 Rome, ItalyBosch, Danielle G. M.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Genet, NL-3584 CX Utrecht, Netherlands Sapienza Univ, Dept Human Neurosci, I-00185 Rome, ItalyEllis, Colin A.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Dept Neurol, Philadelphia, PA 19104 USA Sapienza Univ, Dept Human Neurosci, I-00185 Rome, ItalyAmlie-Wolf, Louise论文数: 0 引用数: 0 h-index: 0机构: Nemours AI duPont Hosp Children, Div Med Genet, Wilmington, DE 19803 USA Sapienza Univ, Dept Human Neurosci, I-00185 Rome, Italy论文数: 引用数: h-index:机构:Atallah, Isis论文数: 0 引用数: 0 h-index: 0机构: Lausanne Univ Hosp, Div Genet Med, CH-1011 Lausanne, Switzerland Univ Lausanne, CH-1011 Lausanne, Switzerland Sapienza Univ, Dept Human Neurosci, I-00185 Rome, ItalyAverdunk, Luisa论文数: 0 引用数: 0 h-index: 0机构: Heinrich Heine Univ, Dept Gen Pediat Neonatol & Pediat Cardiol, Med Fac, D-40225 Dusseldorf, Germany Heinrich Heine Univ, Univ Hosp Dusseldorf, D-40225 Dusseldorf, Germany Sapienza Univ, Dept Human Neurosci, I-00185 Rome, ItalyBaranano, Kristin W.论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Sch Med, Dept Neurol, Baltimore, MD 21287 USA Sapienza Univ, Dept Human Neurosci, I-00185 Rome, ItalyBei, Roberto论文数: 0 引用数: 0 h-index: 0机构: Univ Roma Tor Vergata, Dept Clin Sci & Translat Med, I-00133 Rome, Italy Sapienza Univ, Dept Human Neurosci, I-00185 Rome, ItalyBagnasco, Irene论文数: 0 引用数: 0 h-index: 0机构: Martini Hosp, Epilepsy Ctr Children, Div Neuropsychiat, I-10128 Turin, Italy Sapienza Univ, Dept Human Neurosci, I-00185 Rome, ItalyBrusco, Alfredo论文数: 0 引用数: 0 h-index: 0机构: Univ Torino, Dept Med Sci, I-10126 Turin, Italy Citta Salute & Sci Univ Hosp, I-10126 Turin, Italy Sapienza Univ, Dept Human Neurosci, I-00185 Rome, ItalyDemarest, Scott论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Colorado, Aurora, CO 80045 USA Univ Colorado, Dept Pediat, Sch Med, Aurora, CO 80045 USA Sapienza Univ, Dept Human Neurosci, I-00185 Rome, ItalyAlaix, Anne-Sophie论文数: 0 引用数: 0 h-index: 0机构: Hop Univ Necker Enfants Malad, AP HP, F-75015 Paris, France Sapienza Univ, Dept Human Neurosci, I-00185 Rome, ItalyDi Bonaventura, Carlo论文数: 0 引用数: 0 h-index: 0机构: Sapienza Univ, Dept Human Neurosci, I-00185 Rome, Italy Sapienza Univ, Dept Human Neurosci, I-00185 Rome, ItalyDistelmaier, Felix论文数: 0 引用数: 0 h-index: 0机构: Heinrich Heine Univ, Dept Gen Pediat Neonatol & Pediat Cardiol, Med Fac, D-40225 Dusseldorf, Germany Heinrich Heine Univ, Univ Hosp Dusseldorf, D-40225 Dusseldorf, Germany Sapienza Univ, Dept Human Neurosci, I-00185 Rome, ItalyElmslie, Frances论文数: 0 引用数: 0 h-index: 0机构: St Georges Healthcare NHS Trust, South West Thames Reg Genet Serv, London SW17 0QT, England Sapienza Univ, Dept Human Neurosci, I-00185 Rome, ItalyGan-Or, Ziv论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ H4A 3J1, Canada McGill Univ, Montreal Neurol Inst & Hosp, Montreal, PQ H3A 2B4, Canada McGill Univ, Dept Human Genet, Montreal, PQ H3A 0C7, Canada Sapienza Univ, Dept Human Neurosci, I-00185 Rome, Italy论文数: 引用数: h-index:机构:Gripp, Karen论文数: 0 引用数: 0 h-index: 0机构: Nemours AI duPont Hosp Children, Div Med Genet, Wilmington, DE 19803 USA Sapienza Univ, Dept Human Neurosci, I-00185 Rome, ItalyKamsteeg, Erik-Jan论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen Med Ctr, Dept Human Genet, NL-6525 Nijmegen, Netherlands Sapienza Univ, Dept Human Neurosci, I-00185 Rome, ItalyMacnamara, Ellen论文数: 0 引用数: 0 h-index: 0机构: NIH, Undiagnosed Dis Program, Bethesda, MD 20892 USA Sapienza Univ, Dept Human Neurosci, I-00185 Rome, ItalyMarcelis, Carlo论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen Med Ctr, Dept Clin Genet, NL-6525 Nijmegen, Netherlands Sapienza Univ, Dept Human Neurosci, I-00185 Rome, ItalyMercier, Noelle论文数: 0 引用数: 0 h-index: 0机构: Hop Neurol, Serv Epileptol & Med Handicap, Inst Lavigny, CH-1175 Lavigny, Switzerland Sapienza Univ, Dept Human Neurosci, I-00185 Rome, ItalyPeeden, Joseph论文数: 0 引用数: 0 h-index: 0机构: Univ Tennessee, East Tennessee Childrens Hosp, Dept Med, Knoxville, TN 37916 USA Sapienza Univ, Dept Human Neurosci, I-00185 Rome, ItalyPizzi, Simone论文数: 0 引用数: 0 h-index: 0机构: Osped Pediat Bambino Gesu, IRCCS, Genet & Rare Dis Res Div, I-00146 Rome, Italy Sapienza Univ, Dept Human Neurosci, I-00185 Rome, ItalyPannone, Luca论文数: 0 引用数: 0 h-index: 0机构: Osped Pediat Bambino Gesu, IRCCS, Genet & Rare Dis Res Div, I-00146 Rome, Italy Sapienza Univ, Dept Human Neurosci, I-00185 Rome, ItalyShinawi, Marwan论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Dept Pediat, Sch Med, St Louis, MO 63110 USA Sapienza Univ, Dept Human Neurosci, I-00185 Rome, ItalyToro, Camilo论文数: 0 引用数: 0 h-index: 0机构: NIH, Undiagnosed Dis Program, Bethesda, MD 20892 USA Sapienza Univ, Dept Human Neurosci, I-00185 Rome, ItalyVerbeek, Nienke E.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Genet, NL-3584 CX Utrecht, Netherlands Sapienza Univ, Dept Human Neurosci, I-00185 Rome, ItalyVenkateswaran, Sunita论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Eastern Ontario, Div Neurol, Ottawa, ON K1H 8L1, Canada Sapienza Univ, Dept Human Neurosci, I-00185 Rome, ItalyWheeler, Patricia G.论文数: 0 引用数: 0 h-index: 0机构: Arnold Palmer Hosp Children, Orlando, FL 32806 USA Sapienza Univ, Dept Human Neurosci, I-00185 Rome, ItalyZdrazilova, Lucie论文数: 0 引用数: 0 h-index: 0机构: Charles Univ Prague, Fac Med 1, Dept Pediat & Inherited Metab Disorders, Prague 12808, Czech Republic Gen Univ Hosp Prague, Prague 12808, Czech Republic Sapienza Univ, Dept Human Neurosci, I-00185 Rome, ItalyZhang, Rong论文数: 0 引用数: 0 h-index: 0机构: Yale Univ, Vasc Biol & Therapeut Program, Sch Med, New Haven, CT 06520 USA Yale Univ, Dept Pharmacol, Sch Med, New Haven, CT 06520 USA Sapienza Univ, Dept Human Neurosci, I-00185 Rome, ItalyZorzi, Giovanna论文数: 0 引用数: 0 h-index: 0机构: IRCCS Fdn Carlo Besta Neurol Inst, Dept Pediat Neurol, I-20133 Milan, Italy Sapienza Univ, Dept Human Neurosci, I-00185 Rome, ItalyGuerrini, Renzo论文数: 0 引用数: 0 h-index: 0机构: Univ Florence, Meyer Childrens Hosp, AOU Meyer, Pediat Neurol Neurogenet & Neurobiol Unit & Labs, I-50139 Florence, Italy Sapienza Univ, Dept Human Neurosci, I-00185 Rome, ItalySessa, William C.论文数: 0 引用数: 0 h-index: 0机构: Yale Univ, Vasc Biol & Therapeut Program, Sch Med, New Haven, CT 06520 USA Yale Univ, Dept Pharmacol, Sch Med, New Haven, CT 06520 USA Sapienza Univ, Dept Human Neurosci, I-00185 Rome, ItalyLefeber, Dirk论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen Med Ctr, Donders Inst Brain Cognit & Behav, Dept Neurol, Translat Metab Lab, NL-6525 AJ Nijmegen, Netherlands Sapienza Univ, Dept Human Neurosci, I-00185 Rome, ItalyTartaglia, Marco论文数: 0 引用数: 0 h-index: 0机构: Osped Pediat Bambino Gesu, IRCCS, Genet & Rare Dis Res Div, I-00146 Rome, Italy Sapienza Univ, Dept Human Neurosci, I-00185 Rome, ItalyHamdan, Fadi F.论文数: 0 引用数: 0 h-index: 0机构: CHU St Justine, Div Med Genet, Dept Pediat, Montreal, PQ H3T 1C5, Canada Univ Montreal, Montreal, PQ H3T 1C5, Canada Sapienza Univ, Dept Human Neurosci, I-00185 Rome, ItalyGrabinska, Kariona A.论文数: 0 引用数: 0 h-index: 0机构: Yale Univ, Vasc Biol & Therapeut Program, Sch Med, New Haven, CT 06520 USA Yale Univ, Dept Pharmacol, Sch Med, New Haven, CT 06520 USA Sapienza Univ, Dept Human Neurosci, I-00185 Rome, ItalyLeuzzi, Vincenzo论文数: 0 引用数: 0 h-index: 0机构: Sapienza Univ, Dept Human Neurosci, I-00185 Rome, Italy Sapienza Univ, Dept Human Neurosci, I-00185 Rome, Italy
- [24] Down Syndrome Disintegrative Disorder: A Clinical Regression Syndrome of Increasing ImportancePEDIATRICS, 2020, 145 (06)Rosso, Mattia论文数: 0 引用数: 0 h-index: 0机构: Harvard Univ, Harvard Med Sch, Ann Romney Ctr Neurol Dis, Boston, MA 02115 USA Brigham & Womens Hosp, 75 Francis St, Boston, MA 02115 USA Harvard Univ, Harvard Med Sch, Ann Romney Ctr Neurol Dis, Boston, MA 02115 USAFremion, Ellen论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Internal Med Pediat Program, Houston, TX 77030 USA Harvard Univ, Harvard Med Sch, Ann Romney Ctr Neurol Dis, Boston, MA 02115 USASantoro, Stephanie L.论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Dept Pediat, Div Med Genet & Metab, Boston, MA 02114 USA Harvard Univ, Harvard Med Sch, Dept Pediat, Boston, MA 02115 USA Harvard Univ, Harvard Med Sch, Ann Romney Ctr Neurol Dis, Boston, MA 02115 USAOreskovic, Nicolas M.论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Dept Pediat, Div Med Genet & Metab, Boston, MA 02114 USA Harvard Univ, Harvard Med Sch, Ann Romney Ctr Neurol Dis, Boston, MA 02115 USAChitnis, Tanuja论文数: 0 引用数: 0 h-index: 0机构: Harvard Univ, Harvard Med Sch, Ann Romney Ctr Neurol Dis, Boston, MA 02115 USA Brigham & Womens Hosp, 75 Francis St, Boston, MA 02115 USA Harvard Univ, Harvard Med Sch, Ann Romney Ctr Neurol Dis, Boston, MA 02115 USASkotko, Brian G.论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Dept Pediat, Div Med Genet & Metab, Boston, MA 02114 USA Harvard Univ, Harvard Med Sch, Dept Pediat, Boston, MA 02115 USA Harvard Univ, Harvard Med Sch, Ann Romney Ctr Neurol Dis, Boston, MA 02115 USASantoro, Jonathan D.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Los Angeles, Dept Neurol, 4650 Sunset Blvd,Mail Stop 82, Los Angeles, CA 90027 USA Univ Southern Calif, Keck Sch Med, Los Angeles, CA 90007 USA Harvard Univ, Harvard Med Sch, Ann Romney Ctr Neurol Dis, Boston, MA 02115 USA
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