Rezultaty - Jules G. Leroy

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  1. 1
    Congenital Disorders of N-Glycosylation Including Diseases Associated With O- as Well as N-Glycosylation Defects

    Congenital Disorders of N-Glycosylation Including Diseases Associated With O- as Well as N-Glycosylation Defects od Jules G. Leroy

    Wydane 2006
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  2. 2
    I-Cell Disease: Biochemical Studies

    I-Cell Disease: Biochemical Studies od Jules G. Leroy, Mae Wan Ho, Monica C. MacBrinn, K Zielke, Jack Jacob, John S. O’Brien

    Wydane 1972
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  3. 3
    XYLT1 Mutations in Desbuquois Dysplasia Type 2

    XYLT1 Mutations in Desbuquois Dysplasia Type 2 od Catherine Bui, Céline Huber, Beyhan Tüysüz, Yasemin Alanay, Christine Bôle‐Feysot, Jules G. Leroy, Geert Mortier, Patrick Nitschké, Arnold Münnich, Valérie Cormier‐Daire

    Wydane 2014
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  4. 4
    Cytogenetic analysis of a mesenchymal hamartoma of the liver

    Cytogenetic analysis of a mesenchymal hamartoma of the liver od Frank Speleman, Veronique de Telder, Kathleen A. Potter, Paola Dal Cin, Sabine Van daele, Yves Benoît, Jules G. Leroy, Herman Van Den Berghe

    Wydane 1989
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  5. 5
    Blue Native Polyacrylamide Gel Electrophoresis: A Powerful Tool in Diagnosis of Oxidative Phosphorylation Defects

    Blue Native Polyacrylamide Gel Electrophoresis: A Powerful Tool in Diagnosis of Oxidative Phosphorylation Defects od Rudy Van Coster, Joél Smet, Edith George, Linda De Meırleır, Sara Seneca, Johan Van Hove, Guillaume Sébire, Hélène Verhelst, Jan De Bleecker, Bruno Van Vlem, Patrick Verloo, Jules G. Leroy

    Wydane 2001
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  6. 6
    Diverse Mutations in the Gene for Cartilage Oligomeric Matrix Protein in the Pseudoachondroplasia–Multiple Epiphyseal Dysplasia Disease Spectrum

    Diverse Mutations in the Gene for Cartilage Oligomeric Matrix Protein in the Pseudoachondroplasia–Multiple Epiphyseal Dysplasia Disease Spectrum od Michael D. Briggs, Geert Mortier, William G. Cole, Lily King, Steven S. Golik, Jacky Bonaventure, Lieve Nuytinck, Anne De Paepe, Jules G. Leroy, Leslie G. Biesecker, Mark Lipson, William R. Wilcox, Ralph S. Lachman, David L. Rimoin, Robert G. Knowlton, Daniel H. Cohn

    Wydane 1998
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  7. 7
    Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy

    Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy od Pia Østergaard, Michael A. Simpson, Antonella Mendola, Pradeep Vasudevan, Fiona Connell, Andreas van Impel, Anthony T. Moore, Bart Loeys, Arash Ghalamkarpour, Alexandros Onoufriadis, Inés Martínez‐Corral, Sophie Devery, Jules G. Leroy, Lut Van Laer, Amihood Singer, Martin G. Bialer, Meriel McEntagart, Oliver Quarrell, Glen Brice, Richard C. Trembath, Stefan Schulte‐Merker, Taija Mäkinen, Miikka Vikkula, Peter Mortimer, Sahar Mansour, Steve Jeffery

    Wydane 2012
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  8. 8
    Mutations in the Transmembrane Natriuretic Peptide Receptor NPR-B Impair Skeletal Growth and Cause Acromesomelic Dysplasia, Type Maroteaux

    Mutations in the Transmembrane Natriuretic Peptide Receptor NPR-B Impair Skeletal Growth and Cause Acromesomelic Dysplasia, Type Maroteaux od Cynthia F. Bartels, Hülya Bükülmez, Pius S. Padayatti, David K. Rhee, Conny M.A. van Ravenswaaij‐Arts, Richard M. Pauli, Stefan Mundlos, David Chitayat, Ling-Yu Shih, L.I. Al-Gazali, Sarina G. Kant, Trevor Cole, Jenny Morton, Valérie Cormier‐Daire, Laurence Faivre, Melissa Lees, Jeremy Kirk, Geert Mortier, Jules G. Leroy, Bernhard Zabel, Chong Ae Kim, Yanick J. Crow, Nancy Braverman, Focco van den Akker, Matthew L. Warman

    Wydane 2004
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  9. 9
    Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5

    Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5 od Margaret J. McMillin, Anita Beck, Jessica X. Chong, Kathryn M. Shively, Kati J. Buckingham, Heidi Gildersleeve, Mariana Aracena, Arthur S. Aylsworth, Pierre Bitoun, John C. Carey, Carol L. Clericuzio, Yanick J. Crow, Cynthia J. Curry, Koenraad Devriendt, David B. Everman, Alan Fryer, Kate Gibson, Maria Luisa Giovannucci Uzielli, John M. Graham, Judith G. Hall, Jacqueline T. Hecht, Randall A. Heidenreich, Jane A. Hurst, Sarosh R. Irani, Ingrid P.C. Krapels, Jules G. Leroy, David Mowat, Gordon T. Plant, Stephen P. Robertson, Elizabeth K. Schorry, Richard H. Scott, Laurie H. Seaver, Elliott H. Sherr, Miranda Splitt, Helen Stewart, Constance T. R. M. Stumpel, Şehime Gülsün Temel, David D. Weaver, Margo Whiteford, Marc S. Williams, Holly K. Tabor, Joshua D. Smith, Jay Shendure, Deborah A. Nickerson, Michael J. Bamshad

    Wydane 2014
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  10. 10
    Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients

    Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients od Kristien Hoornaert, Inge Vereecke, Chantal Dewinter, Thomas Rosenberg, Frits A. Beemer, Jules G. Leroy, Laila Bendix, Erik Björck, M Bonduelle, Odile Boute, Valérie Cormier‐Daire, Christine De Die-Smulders, Anne Dieux‐Coëslier, Hélène Dollfus, Mariet Elting, Andrew Green, Veronica Ileana Guerci, Raoul C. M. Hennekam, Yvonne Hilhorts-Hofstee, Muriel Holder, Carel C B Hoyng, Kristi Jones, Dragana Josifova, Ilkka Kaitila, Suzanne Kjaergaard, Yolande H Kroes, Kristina Lagerstedt‐Robinson, Melissa Lees, Martine LeMerrer, Cinzia Magnani, Carlo Marcelis, Loreto Martorell, Michèle Mathieu, Meriel McEntagart, Angela Mendicino, Jenny Morton, Gabrielli Orazio, Véronique Paquis, Orit Reish, K. O. J. Simola, Sarah Smithson, I. Karen Temple, Elisabeth Van Aken, Yolande van Bever, Jenneke van den Ende, Johanna M. van Hagen, Leopoldo Zelante, Riina Žordania, Anne De Paepe, Bart P. Leroy, Marc De Buyzere, Paul Coucke, Geert Mortier

    Wydane 2010
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