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Publisher:[1853-1882]
Date:[1853-1882]
Call Numbers:590.8/Pa2
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ArticlesPeer ReviewedFull TextAuthor / Creator:Greco, Melissa R. ; Lopez, Mabel A. ; Beltran‐Quintero, Maria L. ; Tuc Bengur, Ecenur ; Poe, Michele D. ; Escolar, Maria L.Publisher:United States: John Wiley & Sons, IncJournal title:Annals of clinical and translational neurology, 2024-12, Vol.11 (12), p.3064-3080View online as a Library memberAccess ebook if you are in the Library. Registered NSW residents may log in from home.Export record to excel
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ArticlesPeer ReviewedFull TextAuthor / Creator:Cappello, Valentina ; Marchetti, Laura ; Parlanti, Paola ; Landi, Silvia ; Tonazzini, Ilaria ; Cecchini, Marco ; Piazza, Vincenzo ; Gemmi, MauroPublisher:London: Nature Publishing Group UKJournal title:Scientific reports, 2016-12, Vol.6 (1), p.1-15, Article 1View online as a Library memberAccess ebook if you are in the Library. Registered NSW residents may log in from home.Export record to excel
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ArticlesPeer ReviewedFull TextAuthor / Creator:Bradbury, Allison M ; Bagel, Jessica H ; Nguyen, Duc ; Lykken, Erik A ; Pesayco Salvador, Jill ; Jiang, Xuntian ; Swain, Gary P ; Assenmacher, Charles A ; Hendricks, Ian J ; Miyadera, Keiko ; Hess, Rebecka S ; Ostrager, Arielle ; ODonnell, Patricia ; Sands, Mark S ; Ory, Daniel S ; Shelton, G Diane ; Bongarzone, Ernesto R ; Gray, Steven J ; Vite, Charles HPublisher:United States: American Society for Clinical InvestigationJournal title:The Journal of clinical investigation, 2020-09, Vol.130 (9), p.4906-4920View online as a Library memberAccess ebook if you are in the Library. Registered NSW residents may log in from home.Export record to excel
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ArticlesPeer ReviewedFull TextAuthor / Creator:Turgeon, Coleman T. ; Orsini, Joseph J. ; Sanders, Karen A. ; Magera, Mark J. ; Langan, Thomas J. ; Escolar, Maria L. ; Duffner, Patricia ; Oglesbee, Devin ; Gavrilov, Dimitar ; Tortorelli, Silvia ; Rinaldo, Piero ; Raymond, Kimiyo ; Matern, DietrichPublisher:Dordrecht: Springer NetherlandsJournal title:Journal of inherited metabolic disease, 2015-09, Vol.38 (5), p.923-929View online as a Library memberAccess ebook if you are in the Library. Registered NSW residents may log in from home.Export record to excel
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ArticlesPeer ReviewedFull TextAuthor / Creator:Vantaggiato, Lorenza ; Shaba, Enxhi ; Carleo, Alfonso ; Bezzini, Daiana ; Pannuzzo, Giovanna ; Luddi, Alice ; Piomboni, Paola ; Bini, Luca ; Bianchi, LauraPublisher:Switzerland: MDPI AGJournal title:International journal of molecular sciences, 2022-11, Vol.23 (21), p.13537View online as a Library memberAccess ebook if you are in the Library. Registered NSW residents may log in from home.Export record to excel
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ArticlesPeer ReviewedFull TextAuthor / Creator:Orsini, Joseph J. ; Kay, Denise M. ; Saavedra-Matiz, Carlos A. ; Wenger, David A. ; Duffner, Patricia K. ; Erbe, Richard W. ; Biski, Chad ; Martin, Monica ; Krein, Lea M. ; Nichols, Matthew ; Kurtzberg, Joanne ; Escolar, Maria L. ; Adams, Darius J. ; Arnold, Georgianne L. ; Iglesias, Alejandro ; Galvin-Parton, Patricia ; Kronn, David F. ; Kwon, Jennifer M. ; Levy, Paul A. ; Pellegrino, Joan E. ; Shur, Natasha ; Wasserstein, Melissa P. ; Caggana, MichelePublisher:New York: Elsevier IncJournal title:Genetics in medicine, 2016-03, Vol.18 (3), p.239-248View online as a Library memberAccess ebook if you are in the Library. Registered NSW residents may log in from home.Export record to excel
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ArticlesPeer ReviewedFull TextAuthor / Creator:Mächtel, Rebecca ; Dobert, Jan‐Philipp ; Hehr, Ute ; Weiss, Alexander ; Kettwig, Matthias ; Laugwitz, Lucia ; Groeschel, Samuel ; Schmidt, Manuel ; Arnold, Philipp ; Regensburger, Martin ; Zunke, FriederikePublisher:United States: John Wiley & Sons, IncJournal title:Annals of clinical and translational neurology, 2024-07, Vol.11 (7), p.1715-1731View online as a Library memberAccess ebook if you are in the Library. Registered NSW residents may log in from home.Export record to excel
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ArticlesPeer ReviewedFull TextAuthor / Creator:Li, Yedda ; Xu, Yue ; Benitez, Bruno A. ; Nagree, Murtaza S. ; Dearborn, Joshua T. ; Jiang, Xuntian ; Guzman, Miguel A. ; Woloszynek, Josh C. ; Giaramita, Alex ; Yip, Bryan K. ; Elsbernd, Joseph ; Babcock, Michael C. ; Lo, Melanie ; Fowler, Stephen C. ; Wozniak, David F. ; Vogler, Carole A. ; Medin, Jeffrey A. ; Crawford, Brett E. ; Sands, Mark S.Publisher:United States: National Academy of SciencesJournal title:Proceedings of the National Academy of Sciences - PNAS, 2019-10, Vol.116 (40), p.20097-20103View online as a Library memberAccess ebook if you are in the Library. Registered NSW residents may log in from home.Export record to excel
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Reference EntriesFull TextAuthor / Creator:Frey, RebeccaJournal title:The Gale Encyclopedia of Neurological Disorders: E-O, 2023, p.806-809View online as a Library memberAccess ebook if you are in the Library. Registered NSW residents may log in from home.Export record to excel
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ArticlesPeer ReviewedFull TextAuthor / Creator:Guenzel, Adam J. ; Turgeon, Coleman T. ; Nickander, Kim K. ; White, Amy L. ; Peck, Dawn S. ; Pino, Gisele B. ; Studinski, April L. ; Prasad, Vinod K. ; Kurtzberg, Joanne ; Escolar, Maria L. ; Lasio, Maria Laura Duque ; Pellegrino, Joan E. ; Sakonju, Ai ; Hickey, Rachel E. ; Shallow, Natalie M. ; Ream, Margie A. ; Orsini, Joseph J. ; Gelb, Michael H. ; Raymond, Kimiyo ; Gavrilov, Dimitar K. ; Oglesbee, Devin ; Rinaldo, Piero ; Tortorelli, Silvia ; Matern, DietrichPublisher:New York: Nature Publishing Group USJournal title:Genetics in medicine, 2020-06, Vol.22 (6), p.1108-1118View online as a Library memberAccess ebook if you are in the Library. Registered NSW residents may log in from home.Export record to excel
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ArticlesPeer ReviewedFull TextAuthor / Creator:Kwon, Jennifer M ; Matern, Dietrich ; Kurtzberg, Joanne ; Wrabetz, Lawrence ; Gelb, Michael H ; Wenger, David A ; Ficicioglu, Can ; Waldman, Amy T ; Burton, Barbara K ; Hopkins, Patrick V ; Orsini, Joseph JPublisher:England: BioMed Central LtdJournal title:Orphanet journal of rare diseases, 2018-02, Vol.13 (1), p.30-30, Article 30View online as a Library memberAccess ebook if you are in the Library. Registered NSW residents may log in from home.Export record to excel
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ArticlesPeer ReviewedFull TextAuthor / Creator:Beltran-Quintero, Maria L ; Bascou, Nicholas A ; Poe, Michele D ; Wenger, David A ; Saavedra-Matiz, Carlos A ; Nichols, Matthew J ; Escolar, Maria LPublisher:England: BioMed Central LtdJournal title:Orphanet journal of rare diseases, 2019-02, Vol.14 (1), p.46-46, Article 46View online as a Library memberAccess ebook if you are in the Library. Registered NSW residents may log in from home.Export record to excel
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ArticlesPeer ReviewedFull TextAuthor / Creator:Wasserstein, Melissa P. ; Andriola, Mary ; Arnold, Georgianne ; Aron, Alan ; Duffner, Patricia ; Erbe, Richard W. ; Escolar, Maria L. ; Estrella, Lissette ; Galvin-Parton, Patricia ; Iglesias, Alejandro ; Kay, Denise M. ; Kronn, David F. ; Kurtzberg, Joanne ; Kwon, Jennifer M. ; Langan, Thomas J. ; Levy, Paul A. ; Naidich, Thomas P. ; Orsini, Joseph J. ; Pellegrino, Joan E. ; Provenzale, James M. ; Wenger, David A. ; Caggana, MichelePublisher:New York: Elsevier IncJournal title:Genetics in medicine, 2016-12, Vol.18 (12), p.1235-1243View online as a Library memberAccess ebook if you are in the Library. Registered NSW residents may log in from home.Export record to excel
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ArticlesPeer ReviewedFull TextAuthor / Creator:Inamura, Naoko ; Go, Shinji ; Watanabe, Takashi ; Takase, Hiroshi ; Takakura, Nobuyuki ; Nakayama, Atsuo ; Takebayashi, Hirohide ; Matsuda, Junko ; Enokido, YasushiPublisher:Switzerland: John Wiley & Sons, IncJournal title:Brain pathology (Zurich, Switzerland), 2021-09, Vol.31 (5), p.e12951-n/aView online as a Library memberAccess ebook if you are in the Library. Registered NSW residents may log in from home.Export record to excel
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ArticlesPeer ReviewedFull TextAuthor / Creator:Krieg, Sarah Isabel ; Krägeloh-Mann, Ingeborg ; Groeschel, Samuel ; Beck-Wödl, Stefanie ; Husain, Ralf A ; Schöls, Ludger ; Kehrer, ChristianePublisher:London: BioMed Central LtdJournal title:Orphanet journal of rare diseases, 2020-09, Vol.15 (1), p.1-243, Article 243View online as a Library memberAccess ebook if you are in the Library. Registered NSW residents may log in from home.Export record to excel
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Reference EntriesFull TextAuthor / Creator:Stanley, Amie ; Carson-dewitt, RosalynJournal title:The Gale Encyclopedia of Genetic Disorders: G-O, 2022, p.1066-1068View online as a Library memberAccess ebook if you are in the Library. Registered NSW residents may log in from home.Export record to excel
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ArticlesPeer ReviewedFull TextAuthor / Creator:Evans, Lisa Marie P ; Gawron, Joseph ; Sim, Fraser J ; Feltri, M Laura ; Marziali, Leandro NPublisher:United States: Public Library of ScienceJournal title:PloS one, 2024-12, Vol.19 (12), p.e0314858View online as a Library memberAccess ebook if you are in the Library. Registered NSW residents may log in from home.Export record to excel
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ArticlesPeer ReviewedFull TextAuthor / Creator:Favret, Jacob ; Maulik, Malabika ; Masoom, Rayan ; Kushwaha, Meghana ; Thompson, Devin ; Browne, Richard ; Shin, DaesungPublisher:London: Nature Publishing Group UKJournal title:Scientific reports, 2024-12, Vol.14 (1), p.31822-12, Article 31822View online as a Library memberAccess ebook if you are in the Library. Registered NSW residents may log in from home.Export record to excel
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ArticlesPeer ReviewedFull TextAuthor / Creator:Hill, Chris H. ; Graham, Stephen C. ; Read, Randy J. ; Deane, Janet E.Publisher:United States: National Academy of SciencesJournal title:Proceedings of the National Academy of Sciences - PNAS, 2013-12, Vol.110 (51), p.20479-20484View online as a Library memberAccess ebook if you are in the Library. Registered NSW residents may log in from home.
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