학술논문
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'학술논문'
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Academic Journal
Marten, L.M. ; Lüttgens, M.S. ; Berečić, B. ; Tiburcy, M. ; Brüser, C. ; Gupta, S. ; Jakobs, S. ; Ammer, E. ; Ohlenbusch, A. ; Krätzner, R. ; Rosewich, H. ; Gärtner, J.
In Free Radical Biology and Medicine January 2026 242:654-666
Report
Kuang, Zhuoran; Berger, Felix J.; Lustres, Jose Luis Pérez; Wollscheid, Nikolaus; Li, Han; Lüttgens, Jan; Leinen, Merve Balcı; Flavel, Benjamin S.; Zaumseil, Jana; Buckup, Tiago
J. Phys. Chem. C 2021, 125, 8125-8136
Academic Journal
Lessel, D.; Zeitler, D.M.; Reijnders, M.R.F.; Kazantsev, A.; Hassani Nia, F.; Bartholomäus, A.; Martens, V.; Bruckmann, A.; Graus, V.; McConkie-Rosell, A.; McDonald, M.; Lozic, B.; Tan, E.S.; Gerkes, E.; Johannsen, J.; Denecke, J.; Telegrafi, A.; Zonneveld-Huijssoon, E.; Lemmink, H.H.; Cham, B.W.M.; Kovacevic, T.; Ramsdell, L.; Foss, K.; Le Duc, D.; Mitter, D.; Syrbe, S.; Merkenschlager, A.; Sinnema, M.; Panis, B.; Lazier, J.; Osmond, M.; Hartley, T.; Mortreux, J.; Busa, T.; Missirian, C.; Prasun, P.; Lüttgen, S.; Mannucci, I.; Lessel, I.; Schob, C.; Kindler, S.; Pappas, J.; Rabin, R.; Willemsen, M.H.; Gardeitchik, T.; Löhner, K.; Rump, P.; Dias, K.R.; Evans, C.A.; Andrews, P.I.; Roscioli, T.; Brunner, H.G.; Chijiwa, C.; Lewis, M.E.S.; Jamra, R.A.; Dyment, D.A.; Boycott, K.M.; Stegmann, A.P.A.; Kubisch, C.; Tan, Ene-Choo; Mirzaa, G.M.; McWalter, K.; Kleefstra, T.; Pfundt, R.P.; Ignatova, Z.; Meister, G.; Kreienkamp, H.J.
Academic Journal
Alves CAPF; From the Division of Neuroradiology (C.A.P.F.A.) alvesc@chop.edu.; Sherbini O; Department of Neurology (O.S., A.V.), Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.; D'Arco F; Departments of Radiology (F.D.).; Steel D; Neurology (D.S., M.A.K.), Great Ormond Street Hospital for Children, London, UK.; Molecular Neurosciences (D.S., M.A.K.), Zayed Centre for Research into Rare Diseases in Children, UCL GOS-Institute of Child Health, London, UK.; Kurian MA; Neurology (D.S., M.A.K.), Great Ormond Street Hospital for Children, London, UK.; Molecular Neurosciences (D.S., M.A.K.), Zayed Centre for Research into Rare Diseases in Children, UCL GOS-Institute of Child Health, London, UK.; Radio FC; Genetics and Rare Diseases Research Division (F.C.R., M.T.), Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.; Ferrero GB; Department of Public Health and Pediatrics (G.B.F., D.C.),University of Torino, Turin, Italy.; Carli D; Department of Public Health and Pediatrics (G.B.F., D.C.),University of Torino, Turin, Italy.; Tartaglia M; Genetics and Rare Diseases Research Division (F.C.R., M.T.), Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.; Balci TB; MedicalGenetics Programof Southwestern Ontario (T.B.B.), London Health Sciences Centre, London, Ontario, Canada.; Department of Paediatrics (T.B.B.),Western University, London, Ontario, Canada.; Powell-Hamilton NN; Division of Medical Genetics (N.N.P.-H.), Nemours Childrenșs Hospital, Wilmington, Delaware.; Schrier Vergano SA; Division of Medical Genetics and Metabolism (S.A.S.V.), Childrenșs Hospital of The Kingșs Daughters, Norfolk, Virginia.; Department of Pediatrics (S.A.S.V.), Eastern Virginia Medical School, Norfolk, Virginia.; Reutter H; Division of Neonatology and Pediatric Intensive Care (H.R.), Department of Pediatrics and Adolescent Medicine, Friedrich-Alexander University Nürnberg-Erlangen, Erlangen, Germany.; Hoefele J; Institute of Human Genetics (J.H., R.G.).; Günthner R; Institute of Human Genetics (J.H., R.G.).; Department of Nephrology (R.G.), Klinikum rechts der Isar, Technical University of Munich, School of Medicine, Munich, Germany.; Roeder ER; Department of Pediatrics and Molecular and Human Genetics (E.R.R., R.O.L.), Baylor College of Medicine, San Antonio, Texas.; Littlejohn RO; Department of Pediatrics and Molecular and Human Genetics (E.R.R., R.O.L.), Baylor College of Medicine, San Antonio, Texas.; Lessel D; Institute of Human Genetics (D.L., S.L.), University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Lüttgen S; Institute of Human Genetics (D.L., S.L.), University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Kentros C; Division of Clinical Genetics (C.K., K.A.-Y.), Department of Pediatrics, Columbia University Vagelos College of Physicians and Surgeons and New York-Presbyterian, New York, New York.; Anyane-Yeboa K; Division of Clinical Genetics (C.K., K.A.-Y.), Department of Pediatrics, Columbia University Vagelos College of Physicians and Surgeons and New York-Presbyterian, New York, New York.; Catarino CB; Friedrich-Baur-Institute (C.B.C., T.K.), Department of Neurology, University Hospital, Ludwig-Maximilian University Munich, Munich, Germany.; Mercimek-Andrews S; Department of Medical Genetics (S.M.-A.), Faculty of Medicine & Dentistry, University of Alberta, Edmonton, Alberta, Canada.; Department of Medical Genetics (S.M.-A.), The Hospital for Sick Children, Toronto, Ontario, Canada.; Denecke J; Department of Pediatrics (J.D.), University Medical Center Eppendorf, Hamburg, Germany.; Lyons MJ; Greenwood Genetic Center (M.J.L.), Greenwood, South Carolina.; Klopstock T; Friedrich-Baur-Institute (C.B.C., T.K.), Department of Neurology, University Hospital, Ludwig-Maximilian University Munich, Munich, Germany.; German Center for Neurodegenerative Diseases (T.K.), Munich, Germany.; Munich Cluster for Systems Neurology (T.K.), Munich, Germany.; Bhoj EJ; Department of Radiology, Division of Human Genetics (E.J.B., L.B.).; Bryant L; Department of Radiology, Division of Human Genetics (E.J.B., L.B.).; Vanderver A; Department of Pediatrics, and Division of Neurology (A.V.), Department of Pediatrics, Childrenșs Hospital of Philadelphia, Philadelphia, Pennsylvania.; Department of Neurology (O.S., A.V.), Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
Publisher: American Society of Neuroradiology Country of Publication: United States NLM ID: 8003708 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1936-959X (Electronic) Linking ISSN: 01956108 NLM ISO Abbreviation: AJNR Am J Neuroradiol Subsets: MEDLINE
Academic Journal
In Theoretical Computer Science 23 August 2016 642:24-53
Academic Journal
Corte, James R. ; Fang, Tianan; Pinto, Donald J.P.; Orwat, Michael J.; Rendina, Alan R.; Luettgen, Joseph M.; Rossi, Karen A.; Wei, Anzhi; Ramamurthy, Vidhyashankar; Myers, Joseph E., Jr.; Sheriff, Steven; Narayanan, Rangaraj; Harper, Timothy W.; Zheng, Joanna J.; Li, Yi-Xin; Seiffert, Dietmar A.; Wexler, Ruth R.; Quan, Mimi L.
In Bioorganic & Medicinal Chemistry 15 May 2016 24(10):2257-2272
Academic Journal
Lessel D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany. d.lessel@uke.de.; Zeitler DM; Regensburg Center for Biochemistry (RCB), Laboratory for RNA Biology, University of Regensburg, Regensburg, Germany.; Reijnders MRF; Department of Human Genetics, Radboud University Medical Center, 6500 HB, Nijmegen, The Netherlands.; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.; Kazantsev A; Institute of Biochemistry & Molecular Biology, University of Hamburg, Hamburg, Germany.; Hassani Nia F; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany.; Bartholomäus A; Institute of Biochemistry & Molecular Biology, University of Hamburg, Hamburg, Germany.; GFZ German Research Centre for Geosciences, Section Geomicrobiology, Potsdam, Germany.; Martens V; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany.; Bruckmann A; Regensburg Center for Biochemistry (RCB), Laboratory for RNA Biology, University of Regensburg, Regensburg, Germany.; Graus V; Regensburg Center for Biochemistry (RCB), Laboratory for RNA Biology, University of Regensburg, Regensburg, Germany.; McConkie-Rosell A; Division of Medical Genetics, Department of Pediatrics, Duke University, Durham, NC, 27707, USA.; McDonald M; Division of Medical Genetics, Department of Pediatrics, Duke University, Durham, NC, 27707, USA.; Lozic B; University Hospital of Split, Split, Croatia.; University of Split School of Medicine, Split, Croatia.; Tan ES; Genetics Service, Department of Paediatrics, KK Women's & Children's Hospital, Singapore, Singapore.; Gerkes E; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.; Johannsen J; Department of Pediatrics, University Medical Center Eppendorf, 20246, Hamburg, Germany.; Denecke J; Department of Pediatrics, University Medical Center Eppendorf, 20246, Hamburg, Germany.; Telegrafi A; GeneDx, Gaithersburg, MD, 20877, USA.; Zonneveld-Huijssoon E; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.; Lemmink HH; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.; Cham BWM; Genetics Service, Department of Paediatrics, KK Women's & Children's Hospital, Singapore, Singapore.; Kovacevic T; University Hospital of Split, Split, Croatia.; Ramsdell L; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA, 98105, USA.; Foss K; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA, 98105, USA.; Le Duc D; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany.; Mitter D; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany.; Syrbe S; Department of General Paediatrics, Division of Pediatric Epileptology, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Merkenschlager A; Department of Neuropediatrics, University of Leipzig, Leipzig, Germany.; Sinnema M; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.; Panis B; Department of Pediatrics, Zuyderland Medical Center, Heerlen and Sittard, 6419, the Netherlands.; Lazier J; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.; Osmond M; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.; Hartley T; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.; Mortreux J; Département de Génétique Médicale, CHU Timone Enfants, Assistance Publique - Hôpitaux de Marseille AP-HM, Marseille, France.; Aix Marseille Univ, INSERM, MMG, U1251, Marseille, France.; Busa T; Département de Génétique Médicale, CHU Timone Enfants, Assistance Publique - Hôpitaux de Marseille AP-HM, Marseille, France.; Missirian C; Département de Génétique Médicale, CHU Timone Enfants, Assistance Publique - Hôpitaux de Marseille AP-HM, Marseille, France.; Aix Marseille Univ, INSERM, MMG, U1251, Marseille, France.; Prasun P; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, USA.; Lüttgen S; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany.; Mannucci I; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany.; Lessel I; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany.; Schob C; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany.; Kindler S; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany.; Pappas J; Department of Pediatrics, New York University Grossman School of Medicine, New York, NY, 10016, USA.; Rabin R; Department of Pediatrics, New York University Grossman School of Medicine, New York, NY, 10016, USA.; Willemsen M; Department of Human Genetics, Radboud University Medical Center, 6500 HB, Nijmegen, The Netherlands.; Gardeitchik T; Department of Human Genetics, Radboud University Medical Center, 6500 HB, Nijmegen, The Netherlands.; Löhner K; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.; Rump P; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.; Dias KR; Neuroscience Research Australia (NeuRA), Prince of Wales Clinical School, University of New South Wales, Sydney, Australia.; NSW Health Pathology Randwick Genetics, Sydney, Australia.; Evans CA; Neuroscience Research Australia (NeuRA), Prince of Wales Clinical School, University of New South Wales, Sydney, Australia.; NSW Health Pathology Randwick Genetics, Sydney, Australia.; Andrews PI; Department of Neurology, Sydney Children's Hospital, Sydney, Australia.; School of Women's and Children's Health, University of New South Wales, Sydney, Australia.; Roscioli T; Neuroscience Research Australia (NeuRA), Prince of Wales Clinical School, University of New South Wales, Sydney, Australia.; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, Australia.; New South Wales Health Pathology Genomics Laboratory Randwick, Sydney, Australia.; Brunner HG; Department of Human Genetics, Radboud University Medical Center, 6500 HB, Nijmegen, The Netherlands.; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.; Chijiwa C; Department of Medical Genetics, University of British Columbia, Vancouver, BC, V6H 3N1, Canada.; Lewis MES; Department of Medical Genetics, University of British Columbia, Vancouver, BC, V6H 3N1, Canada.; Jamra RA; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany.; Dyment DA; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.; Boycott KM; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.; Stegmann APA; Department of Human Genetics, Radboud University Medical Center, 6500 HB, Nijmegen, The Netherlands.; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.; Kubisch C; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany.; Tan EC; Research Laboratory, KK Women's & Children's Hospital, Singapore, Singapore.; Mirzaa GM; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.; Department of Pediatrics, University of Washington, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, Seattle, WA, 98195, US.; McWalter K; GeneDx, Gaithersburg, MD, 20877, USA.; Kleefstra T; Department of Human Genetics, Radboud University Medical Center, 6500 HB, Nijmegen, The Netherlands.; Pfundt R; Department of Human Genetics, Radboud University Medical Center, 6500 HB, Nijmegen, The Netherlands.; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.; Ignatova Z; Institute of Biochemistry & Molecular Biology, University of Hamburg, Hamburg, Germany.; Meister G; Regensburg Center for Biochemistry (RCB), Laboratory for RNA Biology, University of Regensburg, Regensburg, Germany.; Kreienkamp HJ; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany. kreienkamp@uke.de.
Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE
Academic Journal
Formal Methods in System Design: An International Journal. August 2007 31(1):63-100
Academic Journal
Sparve, Erik; Quartino, Angelica L.; Lüttgen, Maria; Tunblad, Karin; Gårdlund, Anna Teiling; Fälting, Johanna; Alexander, Robert; Kågström, Jens; Sjödin, Linnea; Bulgak, Alexander; Al-Saffar, Ahmad; Bridgland-Taylor, Matthew; Pollard, Chris; Swedberg, Michael D.B. ; Vik, Torbjörn; Paulsson, Björn
In The Journal of Pharmacology and Experimental Therapeutics June 2014 350(2):469-478
Academic Journal
Lessel I; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Martinistrasse 52, 20246, Hamburg, Germany.; Chen MJ; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, 36394, USA.; Lüttgen S; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Martinistrasse 52, 20246, Hamburg, Germany.; Arndt F; Department for Pediatric Cardiology, University Heart Center Hamburg, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany.; Fuchs S; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Martinistrasse 52, 20246, Hamburg, Germany.; Meien S; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Martinistrasse 52, 20246, Hamburg, Germany.; Thiele H; Cologne Center for Genomics, University of Cologne, 50931, Cologne, Germany.; Jones JR; Molecular Diagnostic Laboratory, Greenwood Genetic Center, Greenwood, SC, 29646, USA.; Shaw BR; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, 36394, USA.; Crossman DK; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, 36394, USA.; Nürnberg P; Cologne Center for Genomics, University of Cologne, 50931, Cologne, Germany.; Center for Molecular Medicine Cologne, University of Cologne, 50931, Cologne, Germany.; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases, University of Cologne, 50931, Cologne, Germany.; Korf BR; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, 36394, USA.; Kubisch C; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Martinistrasse 52, 20246, Hamburg, Germany.; Lessel D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Martinistrasse 52, 20246, Hamburg, Germany. d.lessel@uke.de.
Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE
Academic Journal
Clark, Charles G. ; Rossi, Karen A.; Corte, James R.; Fang, Tianan; Smallheer, Joanne M.; De Lucca, Indawati; Nirschl, David S.; Orwat, Michael J.; Pinto, Donald J.P.; Hu, Zilun; Wang, Yufeng; Yang, Wu; Jeon, Yoon; Ewing, William R.; Myers, Joseph E., Jr.; Sheriff, Steven; Lou, Zhen; Bozarth, Jeffrey M.; Wu, Yiming; Rendina, Alan; Harper, Timothy; Zheng, Joanna; Xin, Baomin; Xiang, Qian; Luettgen, Joseph M.; Seiffert, Dietmar A.; Wexler, Ruth R.; Lam, Patrick Y.S.
In Bioorganic & Medicinal Chemistry Letters 1 October 2019 29(19)
Academic Journal
Madjid, Nather; Tottie, Elin Elvander; Lüttgen, Maria; Meister, Björn; Sandin, Johan; Kuzmin, Alexander; Stiedl, Oliver; Ögren, Sven Ove
In The Journal of Pharmacology and Experimental Therapeutics February 2006 316(2):581-591
Academic Journal
JOURNAL OF MEDICAL GENETICS. Aug 01, 2003 40(8):e99-e99
Bryant, L.; Li, D.; Cox, S.G.; Marchione, D.; Joiner, E.F.; Wilson, K.; Janssen, K.; Lee, P.; March, M.E.; Nair, D.; Sherr, E.; Fregeau, B.; Wierenga, K.J.; Wadley, A.; Mancini, G.M.S.; Powell-Hamilton, N.; van de Kamp, J.M.; Grebe, T.; Dean, J.; Ross, A.; Crawford, H.P.; Powis, Z.; Cho, M.T.; Willing, M.C.; Manwaring, L.; Schot, R.; Nava, C.; Afenjar, A.; Lessel, D.; Wagner, M.; Klopstock, T.; Winkelmann, J.; Catarino, C.B.; Retterer, K.; Schuette, J.L.; Innis, J.W.; Pizzino, A.; Lüttgen, S.; Denecke, J.; Strom, T.M.; Monaghan, K.G.; Yuan, Z.F.; Dubbs, H.; Bend, R.; Lee, J.A.; Lyons, M.J.; Hoefele, J.; Günthner, R.; Reutter, H.; Keren, B.; Radtke, K.; Sherbini, O.; Mrokse, C.; Helbig, K.L.; Odent, S.; Cogné, B.; Mercier, S.; Bézieau, S.; Besnard, T.; Küry, S.; Redon, R.; Reinson, K.; Wojcik, M.H.; Õunap, K.; Ilves, P.; Innes, A.M.; Kernohan, K.D.; Costain, G.; Meyn, M.S.; Chitayat, D.; Zackai, E.; Lehman, A.; Kitson, H.; Martin, M.G.; Martinez-Agosto, J.A.; Nelson, S.F.; Palmer, C.G.S.; Papp, J.C.; Parker, N.H.; Sinsheimer, J.S.; Vilain, E.; Wan, J.; Yoon, A.J.; Zheng, A.; Brimble, E.; Ferrero, G.B.; Radio, F.C.; Carli, D.; Barresi, S.; Brusco, A.; Tartaglia, M.; Thomas, J.M.; Umana, L.; Weiss, M.M.; Gotway, G.; Stuurman, K.E.; Thompson, M.L.; McWalter, K.; Stumpel, C.T.R.M.; Stevens, S.J.C.; Stegmann, A.P.A.; Tveten, K.; Vøllo, A.; Prescott, T.; Fagerberg, C.; Laulund, L.W.; Larsen, M.J.; Byler, M.; Lebel, R.R.; Hurst, A.C.; Schrier Vergano, S.A.; Norman, J.; Mercimek-Andrews, S.; Neira, J.; Van Allen, M.I.; Longo, N.; Sellars, E.; Louie, R.J.; Cathey, S.S.; Brokamp, E.; Heron, D.; Snyder, M.; Vanderver, A.; Simon, C.; de la Cruz, X.; Padilla, N.; Crump, J.G.; Chung, W.; Garcia, B.; Hakonarson, H.H.; Bhoj, E.J.
Sci. Adv. 6:106267 (2020)
Academic Journal
Fette, Seifen, Anstrichmittel. 63:194-195
Academic Journal
J. Denecke; J. Johannsen; A. Neu; R. Santer; K. Kloth; S. Lüttgen; T. Strom; T. Haack; E. Mahler; C. Kubisch; D. Lessel; M. Hempel
Neuropediatrics. 48:S1-S45
Academic Journal
Bryant, Laura; Li, Dong; Sherr, Elliott; Thompson, Michelle L; McWalter, Kirsty; Stumpel, Constance T R M; Stevens, Servi J C; Stegmann, Alexander P A; Tveten, Kristian; Vøllo, Arve; Prescott, Trine; Fagerberg, Christina; Laulund, Lone Walentin; Fregeau, Brieana; Larsen, Martin J; Byler, Melissa; Lebel, Robert Roger; Hurst, Anna C; Dean, Joy; Schrier Vergano, Samantha A; Norman, Jennifer; Mercimek-Andrews, Saadet; Neira, Juanita; Van Allen, Margot I; Wierenga, Klaas J; Longo, Nicola; Sellars, Elizabeth; Louie, Raymond J; Cathey, Sara S; Brokamp, Elly; Heron, Delphine; Snyder, Molly; Vanderver, Adeline; Simon, Celeste; de la Cruz, Xavier; Wadley, Alexandrea; Padilla, Natália; Crump, J Gage; Chung, Wendy; Garcia, Benjamin; Hakonarson, Hakon H; Bhoj, Elizabeth J; Mancini, Grazia M S; Powell-Hamilton, Nina; van de Kamp, Jiddeke; Grebe, Theresa; Dean, John; Ross, Alison; Cox, Samuel G; Crawford, Heather P; Powis, Zoe; Cho, Megan T; Willing, Marcia C; Manwaring, Linda; Schot, Rachel; Nava, Caroline; Afenjar, Alexandra; Lessel, Davor; Wagner, Matias; Marchione, Dylan; Klopstock, Thomas; Winkelmann, Juliane; Catarino, Claudia B; Retterer, Kyle; Schuette, Jane L; Innis, Jeffrey W; Pizzino, Amy; Lüttgen, Sabine; Denecke, Jonas; Strom, Tim M; Joiner, Evan F; Monaghan, Kristin G; Study, DDD; Yuan, Zuo-Fei; Dubbs, Holly; Bend, Renee; Lee, Jennifer A; Lyons, Michael J; Hoefele, Julia; Günthner, Roman; Reutter, Heiko; Wilson, Khadija; Keren, Boris; Radtke, Kelly; Sherbini, Omar; Mrokse, Cameron; Helbig, Katherine L; Odent, Sylvie; Cogne, Benjamin; Mercier, Sandra; Bezieau, Stephane; Besnard, Thomas; Janssen, Kevin; Kury, Sebastien; Redon, Richard; Reinson, Karit; Wojcik, Monica H; Õunap, Katrin; Ilves, Pilvi; Innes, A Micheil; Kernohan, Kristin D; Consortium, Care4Rare Canada; Costain, Gregory; Lee, Pearl; Meyn, M Stephen; Chitayat, David; Zackai, Elaine; Lehman, Anna; Kitson, Hilary; Study, CAUSES; Martin, Martin G; Martinez-Agosto, Julian A; Network, Undiagnosed Diseases; Nelson, Stan F; March, Michael E; Palmer, Christina G S; Papp, Jeanette C; Parker, Neil H; Sinsheimer, Janet S; Vilain, Eric; Wan, Jijun; Yoon, Amanda J; Zheng, Allison; Brimble, Elise; Ferrero, Giovanni Battista; Nair, Divya; Radio, Francesca Clementina; Carli, Diana; Barresi, Sabina; Brusco, Alfredo; Tartaglia, Marco; Thomas, Jennifer Muncy; Umana, Luis; Weiss, Marjan M; Gotway, Garrett; Stuurman, K. E.
Sci Adv
DDD Study, Care4Rare Canada Consortium, CAUSES Study & Undiagnosed Diseases Network 2020, 'Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients', Science Advances, vol. 6, no. 49, eabc9207. https://doi.org/10.1126/sciadv.abc9207
Science advances 6(49), eabc9207 (2020). doi:10.1126/sciadv.abc9207
Bryant, L, Li, D, Cox,S G, Marchione, D, Joiner, E F, Wilson, K, Fagerberg, C, Laulund, L W, Larsen, M J & DDD Study 2020, ' Histone H3.3 beyond cancer : Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients ', Science Advances, vol. 6, no. 49, eabc9207 . https://doi.org/10.1126/sciadv.abc9207
Science advances, vol 6, iss 49
DDD Study, Care4Rare Canada Consortium, CAUSES Study & Undiagnosed Diseases Network 2020, 'Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients', Science Advances, vol. 6, no. 49, eabc9207. https://doi.org/10.1126/sciadv.abc9207
Science advances 6(49), eabc9207 (2020). doi:10.1126/sciadv.abc9207
Bryant, L, Li, D, Cox,
Science advances, vol 6, iss 49
Report
Logical Methods in Computer Science, Volume 9, Issue 3 (August 14, 2013) lmcs:1136
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