Torthaí cuardaigh - Lionel Van Maldergem

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  1. 1
    Exome Sequencing in Brown-Vialetto-Van Laere Syndrome

    Exome Sequencing in Brown-Vialetto-Van Laere Syndrome de réir Janel O. Johnson, J. Raphael Gibbs, Lionel Van Maldergem, Henry Houlden, Andrew Singleton

    Foilsithe / Cruthaithe 2010
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  2. 2
    Hereditary vitamin D resistant rickets caused by a novel mutation in the vitamin D receptor that results in decreased affinity for hormone and cellular hyporesponsiveness.

    Hereditary vitamin D resistant rickets caused by a novel mutation in the vitamin D receptor that results in decreased affinity for hormone and cellular hyporesponsiveness. de réir P J Malloy, T. Ross Eccleshall, Coleman Gross, Lionel Van Maldergem, R. Bouillon, David Feldman

    Foilsithe / Cruthaithe 1997
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  3. 3
    3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesis.

    3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesis. de réir J Jaeken, Michel Detheux, Lionel Van Maldergem, M. Foulon, Hubert Carchon, Emile Van Schaftingen

    Foilsithe / Cruthaithe 1996
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  4. 4
    Mutations in the RP2 Gene Cause Disease in 10% of Families with Familial X-Linked Retinitis Pigmentosa Assessed in This Study

    Mutations in the RP2 Gene Cause Disease in 10% of Families with Familial X-Linked Retinitis Pigmentosa Assessed in This Study de réir Alison J. Hardcastle, Dawn L. Thiselton, Lionel Van Maldergem, Bratin K. Saha, Marcelle Jay, Catherine Plant, Rachel M. Taylor, Alan C. Bird, Shomi S. Bhattacharya

    Foilsithe / Cruthaithe 1999
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  5. 5
    An update on serine deficiency disorders

    An update on serine deficiency disorders de réir Saskia N. van der Crabben, N. M. Verhoeven‐Duif, Eva H. Brilstra, Lionel Van Maldergem, Turgay Coşkun, M. Estela Rubio‐Gozalbo, Ruud Berger, Tom J. de Koning

    Foilsithe / Cruthaithe 2013
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  6. 6
    The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot–Marie–Tooth phenotype

    The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot–Marie–Tooth phenotype de réir Peter De Jonghe, Vincent Timmerman, C. Ceuterick, Eva Nelis, Els De Vriendt, A. Löfgren, Anina Vercruyssen, Christine Verellen, Lionel Van Maldergem, J. J. Martin, Christine Van Broeckhoven

    Foilsithe / Cruthaithe 1999
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  7. 7
    A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice

    A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice de réir Katherine A. Fantauzzo, Marija Tadin‐Strapps, Yu You, Sarah E. Mentzer, F. A. M. Baumeister, Stefano Cianfarani, Lionel Van Maldergem, Dorothy Warburton, John P. Sundberg, Angela M. Christiano

    Foilsithe / Cruthaithe 2008
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  8. 8
    <i>GJA1</i>mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype

    <i>GJA1</i>mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype de réir William A. Paznekas, Barbara Karczeski, Sascha Vermeer, R. Brian Lowry, Martin B. Delatycki, Faivre Laurence, Pasi A. Koivisto, Lionel Van Maldergem, Simeon A. Boyadjiev, Joann Bodurtha, Ethylin Wang Jabs

    Foilsithe / Cruthaithe 2009
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  9. 9
    Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome

    Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome de réir Élise Schaefer, Corinne Collet, David Geneviève, Marie Vincent, Dietmar Lohmann, Elodie Sanchez, Chantal Bolender, Marie‐Madeleine Eliot, Gudrun Nürnberg, Maria-Rita Passos-Bueno, Dagmar Wieczorek, Lionel Van Maldergem, Bérénice Doray

    Foilsithe / Cruthaithe 2014
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  10. 10
    Autism spectrum disorder associated with low serotonin in CSF and mutations in the SLC29A4 plasma membrane monoamine transporter (PMAT) gene

    Autism spectrum disorder associated with low serotonin in CSF and mutations in the SLC29A4 plasma membrane monoamine transporter (PMAT) gene de réir Dea Adamsen, V. Ramaekers, Horace T. B. Ho, Corinne Britschgi, Véronique Rüfenacht, David Meili, Elise Bobrowski, Philippe Paule, Caroline Nava, Lionel Van Maldergem, Rémy Bruggmann, Susanne Walitza, Joanne Wang, Edna Grünblatt, Beat Thöny

    Foilsithe / Cruthaithe 2014
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  11. 11
    Paternal Origin of FGFR2 Mutations in Sporadic Cases of Crouzon Syndrome and Pfeiffer Syndrome

    Paternal Origin of FGFR2 Mutations in Sporadic Cases of Crouzon Syndrome and Pfeiffer Syndrome de réir Rivka L. Glaser, Wen G. Jiang, Simeon A. Boyadjiev, A.K. Tran, Andrea A. Zachary, Lionel Van Maldergem, David Johnson, Sinéad Walsh, Michael Oldridge, Steven A. Wall, Andrew O.M. Wilkie, Ethylin Wang Jabs

    Foilsithe / Cruthaithe 2000
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  12. 12
    Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment

    Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment de réir Katrien Janssens, Filip Vanhoenacker, M Bonduelle, Leon Verbruggen, Lionel Van Maldergem, Stuart H. Ralston, Núria Guañabens, Nicola Migone, Shlomo Wientroub, Maria Teresa Divizia, Carsten Bergmann, Craig R. Bennett, Suat Şimşek, S. Melançon, Tim Cundy, Wim Van Hul

    Foilsithe / Cruthaithe 2005
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  13. 13
    An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature

    An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature de réir Justine Lerat, Laurence Jonard, Natalie Loundon, Sophie Christin‐Maître, Didier Lacombe, Cyril Goizet, Cécile Rouzier, Lionel Van Maldergem, Souad Gherbi, Éréa-Noël Garabédian, Jean‐Paul Bonnefont, Philippe Touraine, Isabelle Mösnier, Arnold Münnich, Françoise Denoyelle, Sandrine Marlin

    Foilsithe / Cruthaithe 2016
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  14. 14
    Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene

    Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene de réir Lionel Van Maldergem, H. Annika Siitonen, Nadine Jalkh, Éliane Chouery, M De Roy, Valérie Delague, Maximilian Muenke, Ethylin Wang Jabs, Juanliang Cai, LL Wang, Sharon E. Plon, Catherine Fourneau, Marjo Kestilä, Y. Gillerot, André Mégarbané, Alain Verloès

    Foilsithe / Cruthaithe 2005
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  15. 15
    Mutations in <i>FKBP10</i> cause recessive osteogenesis imperfecta and bruck syndrome

    Mutations in <i>FKBP10</i> cause recessive osteogenesis imperfecta and bruck syndrome de réir Brian Kelley, Fransiska Malfait, Luisa Bonafé, Dustin Baldridge, Erica P. Homan, Sofie Symoens, Andy Willaert, Nursel Elçioğlu, Lionel Van Maldergem, Christine Verellen‐Dumoulin, Y. Gillerot, Dobrawa Napierala, Deborah Krakow, Peter Beighton, Andrea Superti‐Furga, Anne De Paepe, Brendan Lee

    Foilsithe / Cruthaithe 2010
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  16. 16
    Molecular Characterization of 3-Phosphoglycerate Dehydrogenase Deficiency—a Neurometabolic Disorder Associated with Reduced L-Serine Biosynthesis

    Molecular Characterization of 3-Phosphoglycerate Dehydrogenase Deficiency—a Neurometabolic Disorder Associated with Reduced L-Serine Biosynthesis de réir Leo W. J. Klomp, Tom J. de Koning, Helga E.M. Malingré, Ellen A.C.M. van Beurden, Miny Brink, Frans L. Opdam, Marinus Duran, Jaak Jaeken, Mercè Pineda, Lionel Van Maldergem, Bwee Tien Poll‐The, Inge E.T. van den Berg, Ruud Berger

    Foilsithe / Cruthaithe 2000
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  17. 17
    Prevalence of Mutations in <i>AGPAT2</i> Among Human Lipodystrophies

    Prevalence of Mutations in <i>AGPAT2</i> Among Human Lipodystrophies de réir Jocelyne Magré, Marc Délepine, Lionel Van Maldergem, Jean‐Jacques Robert, J. Antonie Maassen, Muriel Meier, Vanessa R. Panz, Chong Ae Kim, Nadia Tubiana‐Rufi, Paul Czernichow, E Seemanová, Charles Buchanan, Didier Lacombe, Corinne Vigouroux, Olivier Lascols, C. Ronald Kahn, Jacqueline Capeau, Mark Lathrop

    Foilsithe / Cruthaithe 2003
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  18. 18
    A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy

    A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy de réir Juliette Piard, George K. E. Umanah, Frederike L. Harms, Leire Abalde-Atristain, Daniel Amram, Melissa Chang, Rong Chen, Malik Alawi, Vincenzo Salpietro, Mark I. Rees, Seo‐Kyung Chung, Henry Houlden, Alain Verloès, Ted M. Dawson, Valina L. Dawson, Lionel Van Maldergem, Kerstin Kutsche

    Foilsithe / Cruthaithe 2017
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  19. 19
    <i>FLNC</i> pathogenic variants in patients with cardiomyopathies: Prevalence and genotype‐phenotype correlations

    <i>FLNC</i> pathogenic variants in patients with cardiomyopathies: Prevalence and genotype‐phenotype correlations de réir Flavie Ader, Pascal de Groote, Patricia Réant, Caroline Rooryck, Delphine Dupin‐Deguine, Caroline Rambaud, Diala Khraiche, Claire Perret, Jean François Pruny, Michèle Mathieu‐Dramard, Marion Gérard, Yann Troadec, Laurent Gouya, Xavier Jeunemaı̂tre, Lionel Van Maldergem, Albert Hagège, Eric Villard, Philippe Charron, Pascale Richard

    Foilsithe / Cruthaithe 2019
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  20. 20
    Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth

    Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth de réir Lionel Van Maldergem, Qingming Hou, Vera M. Kalscheuer, Marlène Rio, Martine Doco‐Fenzy, Ana Medeira, Arjan P.M. de Brouwer, Christelle Cabrol, Stefan A. Haas, Pierre Cacciagli, Sébastien Moutton, Emilie Landais, Jacques Motté, Laurence Colleaux, Céline Bonnet, Laurent Villard, Juliette Dupont, Heng‐Ye Man

    Foilsithe / Cruthaithe 2013
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