Myoclonic Absences and other Novel Findings in Warburg Micro Syndrome: Clinical Report of an Expanding RAB18 Phenotype von R, Mandarano, A, Danieli, G, De Polo, F, Faletra, P, Michieletto, D, Montanaro, A, Martinuzzi, MT, Handley, P, Bonanni

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ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy von Handley, MT, Reddy, K, Wills, J, Rosser, E, Kamath, A, Halachev, M, Falkous, G, Williams, D, Cox, P, Meynert, A, Raymond, ES, Morrison, H, Brown, S, Allan, E, Aligianis, I, Jackson, AP, Ramsahoye, BH, von Kriegsheim, A, Taylor, RW, Finch, AJ, FitzPatrick, DR

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Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature von Taylor, RL, Handley, MT, Waller, S, Campbell, C, Urquhart, J, Meynert, AM, Ellingford, JM, Donnelly, D, Wilcox, G, Lloyd, IC, Mundy, H, FitzPatrick, DR, Deshpande, C, Clayton-Smith, J, Black, GC

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PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins von Hall, EA, Nahorski, MS, Murray, LM, Shaheen, R, Perkins, E, Dissanayake, KN, Kristaryanto, Y, Jones, RA, Vogt, J, Rivagorda, M, Handley, MT, Mali, GR, Quidwai, T, Soares, DC, Keighren, MA, McKie, L, Mort, RL, Gammoh, N, Garcia-Munoz, A, Davey, T, Vermeren, M, Walsh, D, Budd, P, Aligianis, IA, Faqeih, E, Quigley, AJ, Jackson, IJ, Kulathu, Y, Jackson, M, Ribchester, RR, von Kriegsheim, A, Alkuraya, FS, Woods, CG, Maher, ER, Mill, P

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PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins von Hall, EA, Nahorski, MS, Murray, LM, Shaheen, R, Perkins, E, Dissanayake, KN, Kristaryanto, Y, Jones, RA, Vogt, J, Rivagorda, M, Handley, MT, Mali, GR, Quidwai, T, Soares, DC, Keighren, MA, McKie, L, Mort, RL, Gammoh, N, Garcia-Munoz, A, Davey, T, Vermeren, M, Walsh, D, Budd, P, Aligianis, IA, Faqeih, E, Quigley, AJ, Jackson, IJ, Kulathu, Y, Jackson, M, Ribchester, RR, von Kriegsheim, A, Alkuraya, FS, Woods, CG, Maher, ER, Mill, P

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Disclosure of complementary health approaches among low income and racially diverse safety net patients with diabetes von Chao, M.T, Handley, M.A, Quan, J, Sarkar, U, Ratanawongsa, N, Schillinger, D

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Simple and statistically sound recommendations for analysing physical theories von AbdusSalam, SS, Agocs, FJ, Allanach, BC, Athron, P, Balazs, C, Bagnaschi, E, Bechtle, P, Buchmueller, O, Beniwal, A, Bhom, J, Bloor, S, Bringmann, T, Buckley, A, Butter, A, Camargo-Molina, JE, Chrzaszcz, M, Conrad, J, Cornell, JM, Danninger, M, De Blas, J, De Roeck, A, Desch, K, Dolan, M, Dreiner, H, Eberhardt, O, Ellis, J, Ben, F, Fedele, M, Flaecher, H, Fowlie, A, Gonzalo, TE, Grace, P, Hamer, M, Handley, W, Harz, J, Heinemeyer, S, Hoof, S, Hotinli, S, Jackson, P, Kahlhoefer, F, Kowalska, K, Kraemer, M, Kvellestad, A, Martinez, ML, Mahmoudi, F, Martinez Santos, D, Martinez, GD, Mishima, S, Olive, K, Paul, A, Prim, MT, Porod, W, Raklev, A, Renk, JJ, Rogan, C, Roszkowski, L, De Austri, RR, Sakurai, K, Scaffidi, A, Scott, P, Sessolo, EM, Stefaniak, T, Stoecker, P, Su, W, Trojanowski, S, Trotta, R, Tsai, Y-LS, Van den Abeele, J, Valli, M, Vincent, AC, Weiglein, G, White, M, Wienemann, P, Wu, L, Zhang, Y

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Interspecific Variation in Potential Water-Use Efficiency and Its Relation to Plant Species Abundance in a Water-Limited Grassland von Tsialtas, J. T., Handley, L. L., Kassioumi, M. T., Veresoglou, D. S., Gagianas, A. A.

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Mechanism of catabolism of aggrecan by articular cartilage von Ilic, Mirna Z., Handley, Christopher J., Robinson, H.Clem, Mok, Meng Tuck

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Cathepsin D cleaves aggrecan at unique sites within the interglobular domain and chondroitin sulfate attachment regions that are also cleaved when cartilage is maintained at acid p... von Handley, Christopher J., Tuck Mok, Meng, Ilic, Mirna Z., Adcocks, Clair, Buttle, David J., Robinson, H.Clem

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Catabolism of Aggrecan by Explant Cultures of Human Articular Cartilage in the Presence of Retinoic Acid von Ilic, M.Z., Mok, M.T., Williamson, O.D., Campbell, M.A., Hughes, C.E., Handley, C.J.

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Thermal WIMPs and the scale of new physics: global fits of Dirac dark matter effective field theories von Athron, P, Kozar, NA, Balázs, C, Beniwal, A, Bloor, S, Bringmann, T, Brod, J, Chang, C, Cornell, JM, Farmer, B, Fowlie, A, Gonzalo, TE, Handley, W, Kahlhoefer, F, Kvellestad, A, Mahmoudi, F, Prim, MT, Raklev, A, Renk, JJ, Scaffidi, A, Scott, P, Stöcker, P, Vincent, AC, White, M, Wild, S, Zupan, J

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In vitro Response of Chondrocytes to Mechanical Loading. The Effect of Short Term Mechanical Tension von De Witt, Mignonne T., Handley, Christopher J., Oakes, Barry W., Lowther, Dennis A.

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Biochemical changes in cervical mucus-factor infertility von Lutjen, P. J., Handley, C. J., de Witt, M. T., Trounson, A. O., McBain, J. C.

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