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- [43] Research priorities for rare neurological diseases: a representative view of patient representatives and healthcare professionals from the European Reference Network for Rare Neurological DiseasesORPHANET JOURNAL OF RARE DISEASES, 2021, 16 (01)Post, Annemarie E. M.论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Inst Med Genet & Appl Genom, Tubingen, Germany Univ Tubingen, Inst Med Genet & Appl Genom, Tubingen, GermanyKlockgether, Thomas论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Dept Neurol, Bonn, Germany German Ctr Neurodegenerat Dis DZNE, Bonn, Germany Univ Tubingen, Inst Med Genet & Appl Genom, Tubingen, GermanyLandwehrmeyer, G. Bernhard论文数: 0 引用数: 0 h-index: 0机构: Univ Ulm, Dept Neurol, Ulm, Germany Univ Tubingen, Inst Med Genet & Appl Genom, Tubingen, GermanyPandolfo, Massimo论文数: 0 引用数: 0 h-index: 0机构: Univ Libre Bruxelles, Serv Neurol, Erasme Hosp, Brussels, Belgium Univ Libre Bruxelles, Lab Expt Neurol, Brussels, Belgium Univ Tubingen, Inst Med Genet & Appl Genom, Tubingen, GermanyArnesen, Astri论文数: 0 引用数: 0 h-index: 0机构: European Huntington Assoc, Sogne, Norway Univ Tubingen, Inst Med Genet & Appl Genom, Tubingen, GermanyReinhard, Carola论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Inst Med Genet & Appl Genom, Tubingen, Germany Univ Tubingen, Inst Med Genet & Appl Genom, Tubingen, GermanyGraessner, Holm论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Inst Med Genet & Appl Genom, Tubingen, Germany Univ Hosp Tubingen, Ctr Rare Dis, Tubingen, Germany Univ Tubingen, Inst Med Genet & Appl Genom, Tubingen, Germany
- [44] Variants in LSM7 impair LSM complexes assembly, neurodevelopment in zebrafish and may be associated with an ultra-rare neurological diseaseHUMAN GENETICS AND GENOMICS ADVANCES, 2021, 2 (03):Derksen, Alexa论文数: 0 引用数: 0 h-index: 0机构: McGill Univ Hlth Ctr, Child Hlth & Human Dev Program, Res Inst, Montreal, PQ, Canada Inst Rech Clin Montreal, Translat Prote Lab, Montreal, PQ H2W 1R7, Canada McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ H3A 0G4, Canada McGill Univ Hlth Ctr, Child Hlth & Human Dev Program, Res Inst, Montreal, PQ, CanadaShih, Hung-Yu论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, Sch Med, Dept Pediat, Salt Lake City, UT 84132 USA McGill Univ Hlth Ctr, Child Hlth & Human Dev Program, Res Inst, Montreal, PQ, CanadaForget, Diane论文数: 0 引用数: 0 h-index: 0机构: Inst Rech Clin Montreal, Translat Prote Lab, Montreal, PQ H2W 1R7, Canada McGill Univ Hlth Ctr, Child Hlth & Human Dev Program, Res Inst, Montreal, PQ, CanadaDarbelli, Lama论文数: 0 引用数: 0 h-index: 0机构: McGill Univ Hlth Ctr, Child Hlth & Human Dev Program, Res Inst, Montreal, PQ, Canada McGill Univ Hlth Ctr, Child Hlth & Human Dev Program, Res Inst, Montreal, PQ, CanadaTran, Luan T.论文数: 0 引用数: 0 h-index: 0机构: McGill Univ Hlth Ctr, Child Hlth & Human Dev Program, Res Inst, Montreal, PQ, Canada McGill Univ Hlth Ctr, Child Hlth & Human Dev Program, Res Inst, Montreal, PQ, CanadaPoitras, Christian论文数: 0 引用数: 0 h-index: 0机构: Inst Rech Clin Montreal, Translat Prote Lab, Montreal, PQ H2W 1R7, Canada McGill Univ Hlth Ctr, Child Hlth & Human Dev Program, Res Inst, Montreal, PQ, CanadaGuerrero, Kether论文数: 0 引用数: 0 h-index: 0机构: McGill Univ Hlth Ctr, Child Hlth & Human Dev Program, Res Inst, Montreal, PQ, Canada McGill Univ Hlth Ctr, Child Hlth & Human Dev Program, Res Inst, Montreal, PQ, CanadaTharun, Sundaresan论文数: 0 引用数: 0 h-index: 0机构: Uniformed Serv Univ Hlth Sci USUHS, Dept Biochem, Bethesda, MD 20814 USA McGill Univ Hlth Ctr, Child Hlth & Human Dev Program, Res Inst, Montreal, PQ, CanadaAlkuraya, Fowzan S.论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 12713, Saudi Arabia McGill Univ Hlth Ctr, Child Hlth & Human Dev Program, Res Inst, Montreal, PQ, CanadaKurdi, Wesam, I论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Res Ctr, Dept Obstet & Gynecol, Maternal Fetal Med, Riyadh 12713, Saudi Arabia McGill Univ Hlth Ctr, Child Hlth & Human Dev Program, Res Inst, Montreal, PQ, CanadaNguyen, Cam-Tu Emilie论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal, Neurosci Dept, Montreal, PQ H3T 1J4, Canada McGill Univ Hlth Ctr, Child Hlth & Human Dev Program, Res Inst, Montreal, PQ, CanadaLaberge, Anne-Marie论文数: 0 引用数: 0 h-index: 0机构: CHU St Justine, Serv Genet Med, Montreal, PQ H3T 1C5, Canada McGill Univ Hlth Ctr, Child Hlth & Human Dev Program, Res Inst, Montreal, PQ, CanadaSi, Yue论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD 20877 USA McGill Univ Hlth Ctr, Child Hlth & Human Dev Program, Res Inst, Montreal, PQ, CanadaGauthier, Marie-Soleil论文数: 0 引用数: 0 h-index: 0机构: Inst Rech Clin Montreal, Translat Prote Lab, Montreal, PQ H2W 1R7, Canada McGill Univ Hlth Ctr, Child Hlth & Human Dev Program, Res Inst, Montreal, PQ, CanadaBonkowsky, Joshua L.论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, Sch Med, Dept Pediat, Salt Lake City, UT 84132 USA Primary Childrens Med Ctr, Brain & Spine Ctr, Salt Lake City, UT 84113 USA Primary Childrens Med Ctr, Primary Childrens Ctr Personalized Med, Salt Lake City, UT 84113 USA McGill Univ Hlth Ctr, Child Hlth & Human Dev Program, Res Inst, Montreal, PQ, Canada论文数: 引用数: h-index:机构:Bernard, Genevieve论文数: 0 引用数: 0 h-index: 0机构: McGill Univ Hlth Ctr, Child Hlth & Human Dev Program, Res Inst, Montreal, PQ, Canada McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ H3A 0G4, Canada McGill Univ, Dept Pediat, Montreal, PQ H3A 0G4, Canada McGill Univ, Dept Human Genet, Montreal, PQ H3A 0G4, Canada McGill Univ Hlth Ctr, Div Med Genet, Dept Specialized Med, Montreal, PQ H4A 3J1, Canada McGill Univ Hlth Ctr, Child Hlth & Human Dev Program, Res Inst, Montreal, PQ, Canada
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Sidney St, Cambridge, MA 02139 USAYu, Timothy W.论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, 300 Longwood Ave, Boston, MA 02115 USA Q State Biosci, 179 Sidney St, Cambridge, MA 02139 USABrown, Duncan论文数: 0 引用数: 0 h-index: 0机构: Q State Biosci, 179 Sidney St, Cambridge, MA 02139 USA Q State Biosci, 179 Sidney St, Cambridge, MA 02139 USAAgrawal, Sudhir论文数: 0 引用数: 0 h-index: 0机构: Univ Massachusetts, Med Sch, Dept Med, Worcester, MA 01655 USA Arnay Sci LLC, Shrewsbury, MA 01545 USA Q State Biosci, 179 Sidney St, Cambridge, MA 02139 USAMargulies, David论文数: 0 引用数: 0 h-index: 0机构: Q State Biosci, 179 Sidney St, Cambridge, MA 02139 USA Q State Biosci, 179 Sidney St, Cambridge, MA 02139 USAKopin, Alan论文数: 0 引用数: 0 h-index: 0机构: Tufts Univ, Sch Med, Boston, MA 02111 USA Luke Heller TECPR2 Fdn, Swampscott, MA USA Q State Biosci, 179 Sidney St, Cambridge, MA 02139 USADempsey, Graham T.论文数: 0 引用数: 0 h-index: 0机构: Q State Biosci, 179 Sidney St, Cambridge, MA 02139 USA Q State Biosci, 179 Sidney St, Cambridge, MA 02139 USA