Integrating Ivatan Indigenous Games to Learning Module in Physics: Its Effect to Student Understanding, Motivation, Attitude, and Scientific Sublime von Moro, Kym Clyde H, Billote, William Jo Se M

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Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia von Deng, Han-Xiang, Chen, Wenjie, Hong, Seong-Tshool, Boycott, Kym M., Gorrie, George H., Siddique, Nailah, Yang, Yi, Fecto, Faisal, Shi, Yong, Zhai, Hong, Jiang, Hujun, Hirano, Makito, Rampersaud, Evadnie, Jansen, Gerard H., Donkervoort, Sandra, Bigio, Eileen H., Brooks, Benjamin R., Ajroud, Kaouther, Sufit, Robert L., Haines, Jonathan L., Mugnaini, Enrico, Pericak-Vance, Margaret A., Siddique, Teepu

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Skin massage device von SEDZIOL, ROLAND S, WAITS, KYM H

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SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation von Park, Julien H., Hogrebe, Max, Grüneberg, Marianne, DuChesne, Ingrid, von der Heiden, Ava L., Reunert, Janine, Schlingmann, Karl P., Boycott, Kym M., Beaulieu, Chandree L., Mhanni, Aziz A., Innes, A. Micheil, Hörtnagel, Konstanze, Biskup, Saskia, Gleixner, Eva M., Kurlemann, Gerhard, Fiedler, Barbara, Omran, Heymut, Rutsch, Frank, Wada, Yoshinao, Tsiakas, Konstantinos, Santer, René, Nebert, Daniel W., Rust, Stephan, Marquardt, Thorsten

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A Systematic Review Exploring Empirical Pharmacogenomics Research Within Global Indigenous Populations von Nasir, Bushra Farah, Vinayagam, Ritwika, Massi, Luciana, Nagaraj, Shivashankar H., Toombs, Maree, Rae, Kym M.

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Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8 von Boycott, Kym M., Beaulieu, Chandree L., Kernohan, Kristin D., Gebril, Ola H., Mhanni, Aziz, Chudley, Albert E., Redl, David, Qin, Wen, Hampson, Sarah, Küry, Sébastien, Tetreault, Martine, Puffenberger, Erik G., Scott, James N., Bezieau, Stéphane, Reis, André, Uebe, Steffen, Schumacher, Johannes, Hegele, Robert A., McLeod, D. Ross, Gálvez-Peralta, Marina, Majewski, Jacek, Ramaekers, Vincent T., Nebert, Daniel W., Innes, A. Micheil, Parboosingh, Jillian S., Abou Jamra, Rami

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A Recurrent PDGFRB Mutation Causes Familial Infantile Myofibromatosis von Cheung, Yee Him, Gayden, Tenzin, Campeau, Philippe M., LeDuc, Charles A., Russo, Donna, Nguyen, Van-Hung, Guo, Jiancheng, Qi, Ming, Guan, Yanfang, Albrecht, Steffen, Moroz, Brenda, Eldin, Karen W., Lu, James T., Schwartzentruber, Jeremy, Malkin, David, Berghuis, Albert M., Emil, Sherif, Gibbs, Richard A., Burk, David L., Vanstone, Megan, Lee, Brendan H., Orchard, David, Boycott, Kym M., Chung, Wendy K., Jabado, Nada

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Progression of continuous downstream processing of monoclonal antibodies: Current trends and challenges von Somasundaram, Balaji, Pleitt, Kristina, Shave, Evan, Baker, Kym, Lua, Linda H. L.

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Neu-Laxova Syndrome Is a Heterogeneous Metabolic Disorder Caused by Defects in Enzymes of the L-Serine Biosynthesis Pathway von Acuna-Hidalgo, Rocio, Schanze, Denny, Kariminejad, Ariana, Nordgren, Ann, Kariminejad, Mohamad Hasan, Conner, Peter, Grigelioniene, Giedre, Nilsson, Daniel, Nordenskjöld, Magnus, Wedell, Anna, Freyer, Christoph, Wredenberg, Anna, Wieczorek, Dagmar, Gillessen-Kaesbach, Gabriele, Kayserili, Hülya, Elcioglu, Nursel, Ghaderi-Sohi, Siavash, Goodarzi, Payman, Setayesh, Hamidreza, van de Vorst, Maartje, Steehouwer, Marloes, Pfundt, Rolph, Krabichler, Birgit, Curry, Cynthia, MacKenzie, Malcolm G., Boycott, Kym M., Gilissen, Christian, Janecke, Andreas R., Hoischen, Alexander, Zenker, Martin

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Bacillus cereus Biovar Anthracis Causing Anthrax in Sub-Saharan Africa-Chromosomal Monophyly and Broad Geographic Distribution von Antonation, Kym S, Grützmacher, Kim, Dupke, Susann, Mabon, Philip, Zimmermann, Fee, Lankester, Felix, Peller, Tianna, Feistner, Anna, Todd, Angelique, Herbinger, Ilka, de Nys, Hélène M, Muyembe-Tamfun, Jean-Jacques, Karhemere, Stomy, Wittig, Roman M, Couacy-Hymann, Emmanuel, Grunow, Roland, Calvignac-Spencer, Sébastien, Corbett, Cindi R, Klee, Silke R, Leendertz, Fabian H

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Focal Irradiation and Systemic TGFβ Blockade in Metastatic Breast Cancer von Formenti, Silvia C, Lee, Percy, Adams, Sylvia, Goldberg, Judith D, Li, Xiaochun, Xie, Mike W, Ratikan, Josephine A, Felix, Carol, Hwang, Lin, Faull, Kym F, Sayre, James W, Hurvitz, Sara, Glaspy, John A, Comin-Anduix, Begoña, Demaria, Sandra, Schaue, Dörthe, McBride, William H

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Mutations in C5ORF42 Cause Joubert Syndrome in the French Canadian Population von Srour, Myriam, Schwartzentruber, Jeremy, Hamdan, Fadi F., Ospina, Luis H., Patry, Lysanne, Labuda, Damian, Massicotte, Christine, Dobrzeniecka, Sylvia, Capo-Chichi, José-Mario, Papillon-Cavanagh, Simon, Samuels, Mark E., Boycott, Kym M., Shevell, Michael I., Laframboise, Rachel, Désilets, Valérie, Maranda, Bruno, Rouleau, Guy A., Majewski, Jacek, Michaud, Jacques L.

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The International Rare Diseases Research Consortium: Policies and Guidelines to maximize impact von Lochmüller, Hanns, Torrent I Farnell, Josep, Le Cam, Yann, Jonker, Anneliene H, Lau, Lilian Pl, Baynam, Gareth, Kaufmann, Petra, Dawkins, Hugh Js, Lasko, Paul, Austin, Christopher P, Boycott, Kym M

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Diabetic retinopathy progression in patients under monitoring for treatment or vision loss: external validation and update of a multivariable prediction model von Haider, Sajjad, Adderley, Nicola, Tallouzi, Mohammad O, Sadiq, Salman Naveed, Steel, David H, Chavan, Randhir, Sheikh, Ijaz, Nirantharakumar, Krishnarajah, Snell, Kym I E

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Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness von Kmoch, S., Majewski, J., Ramamurthy, V., Cao, S., Fahiminiya, S., Ren, H., MacDonald, I. M., Lopez, I., Sun, V., Keser, V., Khan, A., Stránecký, V., Hartmannová, H., Přistoupilová, A., Hodaňová, K., Piherová, L., Kuchař, L., Baxová, A., Chen, R., Barsottini, O. G. P., Pyle, A., Griffin, H., Splitt, M., Sallum, J., Tolmie, J. L., Sampson, J. R., Chinnery, P., Banin, E., Sharon, D., Dutta, S., Grebler, R., Helfrich-Foerster, C., Pedroso, J. L., Kretzschmar, D., Cayouette, M., Koenekoop, R. K.

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Future of Rare Diseases Research 2017–2027: An IRDiRC Perspective von Austin, Christopher P., Cutillo, Christine M., Lau, Lilian P.L., Jonker, Anneliene H., Rath, Ana, Julkowska, Daria, Thomson, David, Terry, Sharon F., Montleau, Béatrice, Ardigò, Diego, Hivert, Virginie, Boycott, Kym M., Baynam, Gareth, Kaufmann, Petra, Taruscio, Domenica, Lochmüller, Hanns, Suematsu, Makoto, Incerti, Carlo, Draghia‐Akli, Ruxandra, Norstedt, Irene, Wang, Lu, Dawkins, Hugh J.S.

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Recessive Mutations in the Putative Calcium-Activated Chloride Channel Anoctamin 5 Cause Proximal LGMD2L and Distal MMD3 Muscular Dystrophies von Bolduc, Véronique, Marlow, Gareth, Boycott, Kym M., Saleki, Khalil, Inoue, Hiroshi, Kroon, Johan, Itakura, Mitsuo, Robitaille, Yves, Parent, Lucie, Baas, Frank, Mizuta, Kuniko, Kamata, Nobuyuki, Richard, Isabelle, Linssen, Wim H.J.P., Mahjneh, Ibrahim, de Visser, Marianne, Bashir, Rumaisa, Brais, Bernard

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Pathways of energy transfer in LHCII revealed by room-temperature 2D electronic spectroscopy von Wells, Kym L, Lambrev, Petar H, Zhang, Zhengyang, Garab, Gyözö, Tan, Howe-Siang

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Airway Microbiota Dynamics Uncover a Critical Window for Interplay of Pathogenic Bacteria and Allergy in Childhood Respiratory Disease von Teo, Shu Mei, Tang, Howard H.F., Mok, Danny, Judd, Louise M., Watts, Stephen C., Pham, Kym, Holt, Barbara J., Kusel, Merci, Serralha, Michael, Troy, Niamh, Bochkov, Yury A., Grindle, Kristine, Lemanske, Robert F., Johnston, Sebastian L., Gern, James E., Sly, Peter D., Holt, Patrick G., Holt, Kathryn E., Inouye, Michael

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Selective blockade of TRPA1 channel attenuates pathological pain without altering noxious cold sensation or body temperature regulation von Chen, Jun, Joshi, Shailen K., DiDomenico, Stanley, Perner, Richard J., Mikusa, Joe P., Gauvin, Donna M., Segreti, Jason A., Han, Ping, Zhang, Xu-Feng, Niforatos, Wende, Bianchi, Bruce R., Baker, Scott J., Zhong, Chengmin, Simler, Gricelda H., McDonald, Heath A., Schmidt, Robert G., McGaraughty, Steve P., Chu, Katharine L., Faltynek, Connie R., Kort, Michael E., Reilly, Regina M., Kym, Philip R.

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