Search Results - Marc Abramowicz

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  1. 1
    Congenital hereditary endothelial dystrophy with progressive sensorineural deafness (Harboyan syndrome)

    Congenital hereditary endothelial dystrophy with progressive sensorineural deafness (Harboyan syndrome) by Julie Désir, Marc Abramowicz

    Published 2008
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  2. 2
    Primary Autosomal Recessive Microcephaly: Homozygosity Mapping of MCPH4 to Chromosome 15

    Primary Autosomal Recessive Microcephaly: Homozygosity Mapping of MCPH4 to Chromosome 15 by C. Ruth Jamieson, Cédric Govaerts, Marc Abramowicz

    Published 1999
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  3. 3
    Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland.

    Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland. by Marc Abramowicz, L Duprez, Jasmine Parma, G Vassart, Claudine Heinrichs

    Published 1997
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  4. 4
    Primary microcephaly with ASPM mutation shows simplified cortical gyration with antero‐posterior gradient pre‐ and post‐natally

    Primary microcephaly with ASPM mutation shows simplified cortical gyration with antero‐posterior gradient pre‐ and post‐natally by Julie Désir, Marie Cassart, Philippe David, Patrick Van Bogaert, Marc Abramowicz

    Published 2008
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  5. 5
    New-Onset Diabetes After Renal Transplantation

    New-Onset Diabetes After Renal Transplantation by Lidia Ghisdal, Steven Van Laecke, Marc Abramowicz, Raymond Vanholder, Daniel Abramowicz

    Published 2011
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  6. 6
    Thyroid Transcription Factor 1 Rescues PAX8/p300 Synergism Impaired by a Natural PAX8 Paired Domain Mutation with Dominant Negative Activity

    Thyroid Transcription Factor 1 Rescues PAX8/p300 Synergism Impaired by a Natural PAX8 Paired Domain Mutation with Dominant Negative Activity by Helmut Grasberger, Usanee Ringkananont, Paule LeFrancois, Marc Abramowicz, Gilbert Vassart, Samuel Refetoff

    Published 2005
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  7. 7
    LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma

    LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma by Julie Désir, Yves Sznajer, Fanny Depasse, Françoise Roulez, Marc Schrooyen, Françoise Meire, Marc Abramowicz

    Published 2010
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  8. 8
    GCMB Mutation in Familial Isolated Hypoparathyroidism with Residual Secretion of Parathyroid Hormone

    GCMB Mutation in Familial Isolated Hypoparathyroidism with Residual Secretion of Parathyroid Hormone by Caroline Thomée, Steffen Schubert, Jasmine Parma, Phu-Quoc Lê, Said Hashemolhosseini, Michael Wegner, Marc Abramowicz

    Published 2005
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  9. 9
    DIDA: A curated and annotated digenic diseases database

    DIDA: A curated and annotated digenic diseases database by Andrea Gazzo, Dorien Daneels, Elisa Cilia, M Bonduelle, Marc Abramowicz, Sonia Van Dooren, Guillaume Smits, Tom Lenaerts

    Published 2015
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  10. 10
    Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy

    Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy by Julie Désir, Graciela Moya, Orit Reish, Nicole Van Regemorter, H. Deconinck, Karen L. David, Françoise Meire, Marc Abramowicz

    Published 2007
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  11. 11
    Isodisomy of chromosome 6 in a newborn with methylmalonic acidemia and agenesis of pancreatic beta cells causing diabetes mellitus.

    Isodisomy of chromosome 6 in a newborn with methylmalonic acidemia and agenesis of pancreatic beta cells causing diabetes mellitus. by Marc Abramowicz, Marc Andrien, E. Dupont, Harry Dorchy, Jasmine Parma, L Duprez, Fred D. Ledley, Winnie Courtens, E. Vámos

    Published 1994
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  12. 12
    Chemical chaperone treatment reduces intracellular accumulation of mutant collagen IV and ameliorates the cellular phenotype of a COL4A2 mutation that causes haemorrhagic stroke

    Chemical chaperone treatment reduces intracellular accumulation of mutant collagen IV and ameliorates the cellular phenotype of a COL4A2 mutation that causes haemorrhagic stroke by Lydia Murray, Yinhui Lu, Aislynn Taggart, Nicole Van Regemorter, Catheline Vilain, Marc Abramowicz, Karl E. Kadler, Tom Van Agtmael

    Published 2013
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  13. 13
    Mutation of a potassium channel–related gene in progressive myoclonic epilepsy

    Mutation of a potassium channel–related gene in progressive myoclonic epilepsy by Patrick Van Bogaert, Régis Azizieh, Julie Désir, Alec Aeby, Linda De Meırleır, Jean‐François Laes, Florence Christiaens, Marc Abramowicz

    Published 2007
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  14. 14
    Autosomal Dominant Transmission of Congenital Thyroid Hypoplasia Due to Loss-of-Function Mutation of PAX8<sup>1</sup>

    Autosomal Dominant Transmission of Congenital Thyroid Hypoplasia Due to Loss-of-Function Mutation of PAX8<sup>1</sup> by Catheline Vilain, Catherine Rydlewski, Laurence Duprez, Claudine Heinrichs, Marc Abramowicz, P Malvaux, B. Renneboog, Jasmine Parma, Sabine Costagliola, Gilbert Vassart

    Published 2001
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  15. 15
    Characterization of a Novel Loss of Function Mutation of PAX8 in a Familial Case of Congenital Hypothyroidism with In-Place, Normal-Sized Thyroid

    Characterization of a Novel Loss of Function Mutation of PAX8 in a Familial Case of Congenital Hypothyroidism with In-Place, Normal-Sized Thyroid by Laurent Meeus, Brigitte Gilbert, Catherine Rydlewski, Jasmine Parma, Anne Lienhardt Roussie, Marc Abramowicz, Catheline Vilain, Daniel Christophe, Sabine Costagliola, Gilbert Vassart

    Published 2004
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  16. 16
    Identification of a mutation in the coding sequence of the human thyroid peroxidase gene causing congenital goiter.

    Identification of a mutation in the coding sequence of the human thyroid peroxidase gene causing congenital goiter. by Marc Abramowicz, Héctor M. Targovnik, Viviana Varela, Pascale Cochaux, L. Krawiec, Mario A. Pisarev, F V Propato, Guillermo J. Juvenal, H. A. Chester, Gilbert Vassart

    Published 1992
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  17. 17
    Comparison of plasma and neuroimaging biomarkers to predict cognitive decline in non-demented memory clinic patients

    Comparison of plasma and neuroimaging biomarkers to predict cognitive decline in non-demented memory clinic patients by Augusto J. Mendes, Federica Ribaldi, Aurélien Lathuilière, Nicholas J. Ashton, Henrik Zetterberg, Marc Abramowicz, Max Scheffler, Frédéric Assal, Valentina Garibotto, Kaj Blennow, Giovanni B. Frisoni

    Published 2024
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  18. 18
    Mutation analysis of the MEN1 gene in Belgian patients with multiple endocrine neoplasia type 1 and related diseases

    Mutation analysis of the MEN1 gene in Belgian patients with multiple endocrine neoplasia type 1 and related diseases by Jacques Poncin, Roger Abs, Brigitte Velkeniers, M Bonduelle, Marc Abramowicz, Jean‐Jacques Legros, Alain Verloès, Michel Meurisse, Luc Van Gaal, Christine Verellen, L Koulischer, Albert Beckers

    Published 1999
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  19. 19
    Kinetochore KMN network gene CASC5 mutated in primary microcephaly

    Kinetochore KMN network gene CASC5 mutated in primary microcephaly by Anna Genin, Julie Désir, Nelle Lambert, Martine Biervliet, Nathalie Van der Aa, Geneviève Pierquin, Audrey Killian, M. Tosi, María Teresa Urbina, Anne Lefort, Frédérick Libert, Isabelle Pirson, Marc Abramowicz

    Published 2012
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  20. 20
    A peripheral signature of Alzheimer’s disease featuring microbiota-gut-brain axis markers

    A peripheral signature of Alzheimer’s disease featuring microbiota-gut-brain axis markers by Moira Marizzoni, Peppino Mirabelli, Elisa Mombelli, Luigi Coppola, Cristina Festari, Nicola Lopizzo, Delia Luongo, Monica Mazzelli, Daniele Naviglio, Jean‐Louis Blouin, Marc Abramowicz, Marco Salvatore, Michela Pievani, Annamaria Cattaneo, Giovanni B. Frisoni

    Published 2023
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