G295(P) Pedestrian deaths in irish children – potential for prevention von Hamilton, K, Macken, WL, McGarvey, C, Matthews, T, Nicholson, AJ

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Life After the Event: A Review of Basic Life Support Training for Parents Following Apparent Life-Threatening Events and Their Experience and Practices Following Discharge von Macken, W L, Clarke, N, Nadeem, M, Coghlan, D

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VP447 Clinical, electrophysiological and radiologic profile of Hirayama disease von Gomathy, S., Srivastava, PMV, Garg, A., Agarwal, A., Mishra, R., Reyaz, A., Ahmed, T., Bhatia, R., Priyanka, Y., Goel, V., Macken, WL, Pitceathly, RDS, Hanna, M., Vishnu, V.

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Progress of the Fraser Valley Rehabilitation Authority : interim report to the Hon. Byron I. Johnson / W.L. Macken ; D'Arcy J. Baldwin von Macken, W. L

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G420(P) Prevention of congenital syphilis: What are the strengths and challenges in a tertiary maternity hospital? von Johnston, NF, Macken, WL, Cunningham, O, Connell, MO

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Mitochondrial DNA variants in genomic data: diagnostic uplifts and predictive implications von Macken, WL, Lucassen, AM, Hanna, MG, Pitceathly, RDS

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Applying genomic and transcriptomic advances to mitochondrial medicine von Macken, WL, Vandrovcova, J, Hanna, MG, Pitceathly, RDS

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Enhanced mitochondrial genome analysis: bioinformatic and long-read sequencing advances and their diagnostic implications von Macken, WL, Falabella, M, Pizzamiglio, C, Woodward, CE, Scotchman, E, Chitty, LS, Polke, JM, Bugiardini, E, Hanna, MG, Vandrovcova, J, Chandler, N, Labrum, R, Pitceathly, RDS

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Mitochondrial Strokes: Diagnostic Challenges and Chameleons von Pizzamiglio, C, Bugiardini, E, Macken, WL, Woodward, CE, Hanna, MG, Pitceathly, RDS

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Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly von Macken, WL, Godwin, A, Wheway, G, Stals, K, Nazlamova, L, Ellard, S, Alfares, A, Aloraini, T, AlSubaie, L, Alfadhel, M, Alajaji, S, Wai, HA, Self, J, Douglas, AGL, Kao, AP, Guille, M, Baralle, D

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Mitochondrial DNA analysis from exome sequencing data improves the diagnostic yield in neurological diseases von Poole, OV, Pizzamiglio, C, Murphy, D, Falabella, M, Macken, WL, Bugiardini, E, Woodward, CE, Labrum, R, Efthymiou, S, Salpietro, V, Chelban, V, Kaiyrzhanov, R, Maroofian, R, SYNaPS Study Group, Amato, AA, Gregory, A, Hayflick, SJ, Genomics, QS, Jonvik, H, Wood, N, Houlden, H, Vandrovcova, J, Hanna, MG, Pittman, A, Pitceathly, RDS

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Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1) von Töpf, A, Pyle, A, Griffin, H, Matalonga, L, Schon, K, Cohen, E, Cuesta, I, Danis, D, Denommé-Pichon, AS, Duffourd, Y, Gilissen, C, Johari, M, Laurie, S, Li, S, Nelson, I, Paramonov, I, Peters, S, Prasanth, S, Robinson, P, Sablauskas, K, Savarese, M, Steyaert, W, van der Velde, JK, Vitobello, A, Baets, J, Beijer, D, Bonne, G, Cossins, J, Evangelista, T, Ferlini, A, Hackman, P, Hanna, MG, Houlden, H, Lau, J, Lochmüller, H, Macken, WL, Musacchia, F, Nascimento, A, Natera-de Benito, D, Nigro, V, Piluso, G, Pini, V, Pitceathly, RDS, Polavarapu, K, Cruz, PMR, Sarkozy, A, Selvatici, R, Thompson, R, Torella, A, Udd, B, Van de Vondel, L, Vandrovcova, J, Zaharieva, I, Sickmann, A, Schara–Schmidt, U, Hentschel, A, Chinnery, PF, Kölbel, H, Roos, A, Horvath, R

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Introducing the Bacterial and Viral Bioinformatics Resource Center (BV-BRC): a resource combining PATRIC, IRD and ViPR von Olson, Robert D, Assaf, Rida, Brettin, Thomas, Conrad, Neal, Cucinell, Clark, Davis, James J, Dempsey, Donald M, Dickerman, Allan, Dietrich, Emily M, Kenyon, Ronald W, Kuscuoglu, Mehmet, Lefkowitz, Elliot J, Lu, Jian, Machi, Dustin, Macken, Catherine, Mao, Chunhong, Niewiadomska, Anna, Nguyen, Marcus, Olsen, Gary J, Overbeek, Jamie C, Parrello, Bruce, Parrello, Victoria, Porter, Jacob S, Pusch, Gordon D, Shukla, Maulik, Singh, Indresh, Stewart, Lucy, Tan, Gene, Thomas, Chris, VanOeffelen, Margo, Vonstein, Veronika, Wallace, Zachary S, Warren, Andrew S, Wattam, Alice R, Xia, Fangfang, Yoo, Hyunseung, Zhang, Yun, Zmasek, Christian M, Scheuermann, Richard H, Stevens, Rick L

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Truly selective primary IgM deficiency is probably very rare von Janssen, L. M. A., Macken, T., Creemers, M. C. W., Pruijt, J. F. M., Eijk, J. J. J., de Vries, E.

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Detection of Influenza Viruses Resistant to Neuraminidase Inhibitors in Global Surveillance during the First 3 Years of Their Use von Monto, Arnold S, McKimm-Breschkin, Jennifer L, Macken, Catherine, Hampson, Alan W, Hay, Alan, Klimov, Alexander, Tashiro, Masato, Webster, Robert G, Aymard, Michelle, Hayden, Frederick G, Zambon, Maria

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Implementation of point-of-care testing and a temporary influenza ward in a Dutch hospital von Lankelma, J M, Hermans, M H A, Hazenberg, E H L C M, Macken, T, Dautzenberg, P L J, Koeijvoets, K C M C, Jaspers, J W H, van Gageldonk-Lafeber, A B, Lutgens, S P M

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630P Genetic diversity and clinical implications of facioscapulohumeral muscular dystrophy in the Indian population von Lemmers, R., Venugopalan, Y.V., van der Vliet, P., Reyaz, A., Mishra, R., Ahmad, T., Kretkiewicz, M., Macken, W., Efthymiou, S., Bhatia, R., Dominik, N., Houlden, H., Morrow, J., Wilson, L., Hanna, M., Bugiardini, E., van der Maarel, S., Srivastava, M. Padma

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97P Spectrum of limb girdle muscular dystrophies in a cohort of inherited myopathies with limb girdle weakness von Venugopalan, Y.V., Macken, W., Dalal, A., Rani, N., Reyaz, A., Ahmad, T., Tarane, K., Danish, M., Bhatia, R., Wilson, L., Bugiardini, E., Vandrovcova, J., Houlden, H., Pitceathly, R., Thangaraj, K., Topf, A., Straub, V., Hanna, M., Srivastava, P.

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14O Inherited neuromuscular disorders in India: Outcomes of 1000 probands in the ICGNMD study at AIIMS New Delhi von Venugopalan, Y.V., Macken, W., Wilson, L., Rani, N., Reyaz, A., Ahmad, T., Dalal, A., Vandrovcova, J., Dominik, N., Tallapaka, K., Lemmers, R., Reilly, M., Hanna, M., Bhatia, R., Pitceathly, R., Houlden, H., Thangaraj, K., Straub, V., Srivastava, P.

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Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome von Falabella, Micol, Pizzamiglio, Chiara, Tabara, Luis Carlos, Munro, Benjamin, Abdel-Hamid, Mohamed S, Sonmezler, Ece, Macken, William L, Lu, Shanti, Tilokani, Lisa, Flannery, Padraig J, Patel, Nina, Pope, Simon A S, Heales, Simon J R, Hammadi, Dania B H, Alston, Charlotte L, Taylor, Robert W, Lochmuller, Hanns, Woodward, Cathy E, Labrum, Robyn, Vandrovcova, Jana, Houlden, Henry, Chronopoulou, Efstathia, Pierre, Germaine, Maroofian, Reza, Hanna, Michael G, Taanman, Jan-Willem, Hiz, Semra, Oktay, Yavuz, Zaki, Maha S, Horvath, Rita, Prudent, Julien, Pitceathly, Robert D S

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