Syndromes of disordered chromatin remodeling von Ausió, J, Levin, DB, De Amorim, GV, Bakker, S, Macleod, PM

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High incidence rate and absent family histories in one quarter of patients newly diagnosed with Huntington disease in British Columbia von Almqvist, EW, Elterman, DS, MacLeod, PM, Hayden, MR

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Inherited Mutations in PTEN That Are Associated with Breast Cancer, Cowden Disease, and Juvenile Polyposis von Lynch, Eric D., Ostermeyer, Elizabeth A., Lee, Ming K., Arena, J. Fernando, Ji, HanLee, Dann, Jamie, Swisshelm, Karen, Suchard, David, MacLeod, Patrick M., Kvinnsland, Stener, Gjertsen, Bjorn Tore, Heimdal, Ketil, Lubs, Herb, Møller, Pål, King, Mary-Claire

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Molecular characterization of L-CPT I deficiency in six patients: insights into function of the native enzyme von Brown, N F, Mullur, R S, Subramanian, I, Esser, V, Bennett, M J, Saudubray, J M, Feigenbaum, A S, Kobari, J A, Macleod, P M, McGarry, J D, Cohen, J C

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Early Gastric Cancer in Young, Asymptomatic Carriers of Germ-Line E-Cadherin Mutations von Huntsman, David G, Carneiro, Fatima, Lewis, Frank R, MacLeod, Patrick M, Hayashi, Allen, Monaghan, Kristin G, Maung, Raymond, Seruca, Raquel, Jackson, Charles E, Caldas, Carlos

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Machado Joseph disease maps to the same region of chromosome 14 as the spinocerebellar ataxia type 3 locus von Twist, E C, Casaubon, L K, Ruttledge, M H, Rao, V S, Macleod, P M, Radvany, J, Zhao, Z, Rosenberg, R N, Farrer, L A, Rouleau, G A

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SETD1A variant-associated psychosis: A systematic review of the clinical literature and description of two new cases von Colijn, Mark A., Carrion, Prescilla, Poirier-Morency, Guillaume, Rogic, Sanja, Torres, Ivan, Menon, Mahesh, Lisonek, Michelle, Cook, Courtney, DeGraaf, Ashley, Thammaiah, Subramanya Ponnachana, Neelakant, Harish, Willaeys, Veerle, Leonova, Olga, White, Randall F., Yip, Stephen, Mungall, Andrew J., MacLeod, Patrick M., Gibson, William T., Sullivan, Patrick F., Honer, William G., Pavlidis, Paul, Stowe, Robert M.

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A familial contiguous gene deletion syndrome at Xp22.3 characterized by severe learning disabilities and ADHD von Boycott, Kym M., Parslow, Malcolm I., Ross, Judith L., Miller, Ivan P., Bech‐Hansen, N. Torben, MacLeod, Patrick M.

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The effect of cisplatin on renal function in patients with testicular tumours von Macleod, P.M., Tyrell, C.J., Keeling, D.H.

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Gonadal mosaicism in a family with adrenoleukodystrophy: Molecular diagnosis of carrier status among daughters of a gonadal mosaic when direct detection of the mutation is not poss... von Graham, G. E., MacLeod, P. M., Lillicrap, D. P., Bridge, P. J.

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Recurrent respiratory infections in a child with fucosidosis: Is the mucus too thin for effective transport? von Rubin, Bruce K., Macleod, Patrick M., Sturgess, Jennifer, King, Malcolm

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Machado Joseph disease is not an allele of the spinocerebellar ataxia 2 locus von TWIST, E. C, FARRER, L. A, MACLEOD, P. M, RADVANY, J, CHAMBERLAIN, S, ROSENBERG, R. N, ROULEAU, G. A

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Recurrent abortion and amino‐acid abnormalities von Shaw, D., Macleod, P. M., Applegarth, D. A.

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The Machado-Joseph disease locus is different from the spinocerebellar ataxia locus (SCA1) von Carson, Wendy J., Radvany, Joao, Farrer, Lindsay A., Vincent, Dominique, Rosenberg, Roger N., MacLeod, Patrick M., Rouleau, Guy A.

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Accutane-induced teratogenesis von Robertson, R, MacLeod, P M

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Evidence for multi-site closure of the neural tube in humans von Van Allen, Margot I., Kalousek, Dagmar K., Chernoff, Gerold F., Juriloff, Diana, Harris, Muriel, McGillivray, Barbara C., Yong, Siu-Li, Langlois, Sylvie, Macleod, Patrick M., Chitayat, David, Friedman, Jan M., Wilson, R. Doug, McFadden, Deborah, Pantzar, J., Ritchie, Susan, Hall, Judith G.

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Localization of X-Linked Dominant Charcot-Marie-Tooth Disease (CMT 2) to Xq13 von Beckett, J., Holden, J. J. A., Simpson, N. E., White, B. N., Macleod, P. M.

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Novel mutations in the connexin 32 gene associated with X-linked Charcot-Marie tooth disease von Tan, Charles C., Ainsworth, Peter J., Hahn, Angelika F., MacLeod, Patrick M.

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125 EXPANSION OF THE 22q13 DELETION PHENOTYPE IN FOUR PATIENTS WITH AUTISM SPECTRUM DISORDER von Lopez-Rangel, E., Vallance, H., Palaty, J., Mickelson, E., Hrynchak, M., Separovic, E., MacLeod, P. M., Arbour, L., Clarke, L., Lewis, M. E.S.

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Methylcitrate in maternal urine during a pregnancy with a fetus affected with propionic acidaemia von Aramaki, S., Lehotay, D., Nyhan, W. L., MacLeod, P. M., Sweetman, L.

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