Sökresultat - R. J McKinlay Gardner
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Paternally Inherited Inactivating Mutations of the<i>GNAS1</i>Gene in Progressive Osseous Heteroplasia av Eileen M. Shore, Jaimo Ahn, Suzanne M. Jan de Beur, Ming Li, Meiqi Xu, R. J McKinlay Gardner, Michael Zasloff, Michael P. Whyte, Michael A. Levine, Frederick S. Kaplan
Publicerad 2002Artigo -
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The Spectrum of Mutations in TBX3: Genotype/Phenotype Relationship in Ulnar-Mammary Syndrome av Michael J. Bamshad, Thanh Le, W. Scott Watkins, M.E. Dixon, Bridget Kramer, Amy D. Roeder, John C. Carey, Susan Root, Albert Schinzel, Lionel Van Maldergem, R. J McKinlay Gardner, Robert C. Lin, Christine E. Seidman, Jonathan G. Seidman, Robert Wallerstein, Ellen Moran, Rebecca Sutphen, Christine Campbell, Lynn B. Jorde
Publicerad 1999Artigo -
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Molecular consequences of dominant Bethlem myopathy collagen VI mutations av Naomi L. Baker, Matthias Mörgelin, Rishika A. Pace, Rachel A. Peat, Naomi E. Adams, R. J. McKinlay Gardner, Lewis P. Rowland, Geoffrey Miller, Peter De Jonghe, Berten Ceulemans, Mark C. Hannibal, Matthew Edwards, Elizabeth M. Thompson, Richard D. Jacobson, Rosaline C. M. Quinlivan, Salim Aftimos, Andrew J. Kornberg, Kathryn N. North, John F. Bateman, Shireen R. Lamandé
Publicerad 2007Artigo -
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Prelingual Deafness: High Prevalence of a 30delG Mutation in the Connexin 26 Gene av Françoise Denoyelle, Dominique Weil, Marion A. Maw, S.A. Wilcox, Nicholas Lench, D. R. Allen-Powell, Amelia H. Osborn, H Dahl, Anna Middleton, Mark Houseman, Catherine Dodé, Sandrine Marlin, Amel Boulila‐Elgaied, M’hamed Grati, Hammadi Ayadi, S. Benarab, Pierre Bitoun, Geneviève Lina‐Granade, Jacqueline Godet, Mirna Mustapha, Jacques Loiselet, Elie El‐Zir, Anne Aubois, A Joannard, Jacqueline Levilliers, E.N. Garabédian, R F Mueller, R. J McKinlay Gardner, Christine Petit
Publicerad 1997Artigo -
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The genetics of recurrent hydatidiform moles: new insights and lessons from a comprehensive analysis of 113 patients av Ngoc Minh Nguyen, Yassemine Khawajkie, Nawel Mechtouf, Maryam Rezaei, Magali Bréguet, Elvira Kurvinen, Sujatha Jagadeesh, Aslı Ece Solmaz, Mónica Aguinaga‐Ríos, Reda Hemida, Mehmet Harma, Cécile Rittore, Kurosh Rahimi, Jocelyne Arseneau, Karine Hovanes, Ronald Clisham, Tiffanee Lenzi, Bonnie Scurry, Marie‐Claude Addor, Rashmi Bagga, Genevieve Girardet Nendaz, Vildana Finci, Gemma Poke, Leslie Grimes, Nerine Gregersen, Kayla York, Pierre‐Adrien Bolze, Chirag Patel, Hossein Mozdarani, Jacques Puechberty, Jessica G. Scotchie, Majid Fardaei, Müge Harma, R. J McKinlay Gardner, Trilochan Sahoo, Tracy Dudding‐Byth, Radhika Srinivasan, Philippe Sauthier, Rima Slim
Publicerad 2018Artigo
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GNAS complex locus
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