Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature von BOERKOEL, C. F, O'NEILL, S, FRÜND, S, GEARY, D. F, IESHIMA, A, ILLIES, F, JOSEPH, M. W, KAITILA, I, LAMA, G, LEHEUP, B, LUDMAN, M. D, MCLEOD, D. R, ANDRE, J. L, MEDEIRA, A, MILFORD, D. V, ORMÄLÄ, T, RENER-PRIMEC, Z, SANTAVA, A, SANTOS, H. G, SCHMIDT, B, SMITH, G. C, SPRANGER, J, ZUPANCIC, N, BENKE, P. J, WEKSBERG, R, BOGDANOVIC, R, BULLA, M, BURGUET, A, COCKFIELD, S, CORDEIRO, I, EHRICH, J. H. H

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Novel mutations in the sacsin gene in ataxia patients from Maritime Canada von Guernsey, D.L, Dubé, M.-P, Jiang, H, Asselin, G, Blowers, S, Evans, S, Ferguson, M, Macgillivray, C, Matsuoka, M, Nightingale, M, Rideout, A, Delatycki, M, Orr, A, Ludman, M, Dooley, J, Riddell, C, Samuels, M.E

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Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the α-galactosidase A gene von Eng, Christine M., Niehaus, Dana J., Enriquez, Annette L., Burgert, Tania S., Ludman, Mark D., Desnick, RobertJ

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Genealogy, natural history, and phenotype of Alström syndrome in a large Acadian kindred and three additional families von Marshall, Jan D., Ludman, Mark D., Shea, Sarah E., Salisbury, Sonia R., Willi, Steven M., LaRoche, Robert G., Nishina, Patsy M.

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Long-Term Follow-Up of Elective Chronic Total Coronary Occlusion Angioplasty von George, Sudhakar, MD, Cockburn, James, MD, Clayton, Tim C., MSc, Ludman, Peter, MD, Cotton, James, MD, Spratt, James, MA, Redwood, Simon, MD, de Belder, Mark, MD, de Belder, Adam, MD, Hill, Jonathan, MA, Hoye, Angela, MBChB, PhD, Palmer, Nick, MD, Rathore, Sudhir, MD, Gershlick, Anthony, MB BS, Di Mario, Carlo, MD, PhD, Hildick-Smith, David, MD

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Gender Differences in Outcomes and Predictors of All-Cause Mortality After Percutaneous Coronary Intervention (Data from United Kingdom and Sweden) von Kunadian, Vijay, MBBS, MD, Qiu, Weiliang, PhD, Lagerqvist, Bo, MD, PhD, Johnston, Nina, MD, PhD, Sinclair, Hannah, MB, ChB, Tan, Ying, MBBS, Ludman, Peter, MD, James, Stefan, MD, PhD, Sarno, Giovanna, MD, PhD

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Multiple metachromatic leucodystrophy alleles in an unaffected subject: a case of dispermic chimaerism von Coulter-Mackie, M B, Rip, J, Beis, M J, Ferreira, P, Ludman, M D

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Comparative Survival After Transapical, Direct Aortic, and Subclavian Transcatheter Aortic Valve Implantation (Data from the UK TAVI Registry) von Fröhlich, Georg M., MD, Baxter, Paul D., PhD, Malkin, Christopher J., MD, Scott, D. Julian A., MD, Moat, Neil E., MD, Hildick-Smith, David, MD, Cunningham, David, MD, MacCarthy, Philip A., PhD, Trivedi, Uday, Bsc, de Belder, Mark A., MD, Ludman, Peter F., MD, Blackman, Daniel J., MD

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Absence of fragile X syndrome in Nova Scotia von BERESFORD, R G, TATLIDIL, C, RIDDELL, D C, WELCH, J P, LUDMAN, M D, NEUMANN, P E, GREER, W L

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Baseline Bleeding Risk and Arterial Access Site Practice in Relation to Procedural Outcomes After Percutaneous Coronary Intervention von Mamas, Mamas A., DPhil, BM BCh, Anderson, Simon G., PhD, MB BCh, Carr, Matthew, PhD, Ratib, Karim, MB BCh, Buchan, Iain, MD, Sirker, Alex, PhD, MB Chir, Fraser, Douglas G., MD, MB Chir, Hildick-Smith, David, MD, de Belder, Mark, MD, Ludman, Peter F., MD, Nolan, James, MD

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Access Site Practice and Procedural Outcomes in Relation to Clinical Presentation in 439,947 Patients Undergoing Percutaneous Coronary Intervention in the United Kingdom von Ratib, Karim, MB ChB, Mamas, Mamas A., BM BCh, DPhil, Anderson, Simon G., MBBCh, PhD, Bhatia, Gurbir, MD, Routledge, Helen, MD, De Belder, Mark, MA, MD, Ludman, Peter F., MA, MD, Fraser, Douglas, MB BChir, Nolan, James, MD

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Longitudinal Study of the Early Electroretinographic Changes in Alström's Syndrome von Tremblay, François, LaRoche, Robert G., Shea, Sarah E., Ludman, Mark D.

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Effect of access site, gender, and indication on clinical outcomes after percutaneous coronary intervention: Insights from the British Cardiovascular Intervention Society (BCIS) von Kwok, Chun Shing, MBBS, MSc, BSc, Kontopantelis, Evangelos, PhD, Kunadian, Vijay, MD, Anderson, Simon, PhD, MBBCh, Ratib, Karim, MD, Sperrin, Mathew, PhD, Zaman, Azfar, MD, Ludman, Peter F., MD, de Belder, Mark A., MD, Nolan, James, MD, Mamas, Mamas A., BMBCh DPhil

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Successful treatment of painful crises of fabry disease with low dose morphine von Gordon, Kevin E., Ludman, Mark D., Finle, G.Allen

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Metachromatic leucodystrophy in three families from Nova Scotia, Canada: a recurring mutation in the arylsulphatase A gene von Coulter-Mackie, M B, Gagnier, L, Beis, M J, Applegarth, D A, Cole, D E, Gordon, K, Ludman, M D

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Vascular Access Site and Outcomes Among 26,807 Chronic Total Coronary Occlusion Angioplasty Cases From the British Cardiovascular Interventions Society National Database von Kinnaird, Tim, MD, Anderson, Richard, MD, Ossei-Gerning, Nick, MD, Gallagher, Sean, MD, Large, Adrian, MD, Strange, Julian, MD, Ludman, Peter, MD, de Belder, Mark, MD, Nolan, James, MD, Hildick-Smith, David, MD, Mamas, Mamas, PhD

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Inadequacy of Existing Clinical Prediction Models for Predicting Mortality after Transcatheter Aortic Valve Implantation von Martin, Glen P., MSc, Sperrin, Matthew, PhD, Ludman, Peter F., MA, MD, FRCP, FESC, de Belder, Mark A., MA, MD, FRCP, Gale, Chris P., PhD, FRCP, FESC, Toff, William D., MD, FRCP, FESC, Moat, Neil E., MBBS, MS, Trivedi, Uday, MBBS, Buchan, Iain, MD, FFPH, Mamas, Mamas A., MA, DPhil, FRCP

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Prevalence and Impact of Co-morbidity Burden as Defined by the Charlson Co-morbidity Index on 30-Day and 1- and 5-Year Outcomes After Coronary Stent Implantation (from the Nobori-2... von Mamas, Mamas A., BM BCh, DPhil, Fath-Ordoubadi, Farzin, MD, Danzi, Gian B., MD, Spaepen, Erik, MSc, Kwok, Chun Shing, MBBS, Buchan, Iain, MD, Peek, Niels, PhD, de Belder, Mark A., MD, Ludman, Peter F., MD, Paunovic, Dragica, MD, Urban, Philip, MD

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Metachromatic leucodystrophy (MLD) in a patient with a constitutional ring chromosome 22 von Coulter-Mackie, M B, Rip, J, Ludman, M D, Beis, J, Cole, D E C

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A Modified Buddy-Wire Technique for Crossing of the Interatrial Septum With the Sapien 3 Valve During Transseptal Mitral Valve-in-Valve/Ring Procedures von Doshi, Sagar N., Savvoulidis, Panagiotis, Mechery, Anthony, Lawton, Ewa, Ludman, Peter F., Nadir, Adnan

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