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33 results for Bernard,+Rafaelle

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Books
Impostures innocentes [electronic resource] : or, a collection of prints from the most celebrated painters, viz. Rafael, Guido, Carlo Maratti, Poussin, Rembrandt, &c. Engraved in imitation of these ma...
Author / Creator:Picart, Bernard, 1673-1733.
Publisher:London : printed for J. Boydell, Engraver, at the Unicorn, the Corner of Queen-Street, Cheapside, MDCCLVI. [1756]
Date:MDCCLVI. [1756]
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Books
Trujillo : the death of the Goat / Bernard Diederich.
Author / Creator:Diederich, Bernard.
Publisher:London ; Sydney : Bodley Head, 1978.
Date:1978.
Call Numbers:T0233290
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Kronungsmesse. Spatzenmesse. Exsultate, jubilate [sound recording] / Wolfgang Amadeus Mozart.
Publisher:[Hamburg] : Deutsche Grammophon, c1986, p1973.
Call Numbers:RAV/DISC4/598
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Books
The glory that was Grub Street : impressions of contemporary authors / by St. John Adcock ; with thirty-two camera studies by E.O. Hoppé.
Author / Creator:Adcock, Arthur St. John, 1864-1930.
Publisher:London : Sampson Low, Marston, [1928].
Date:[1928].
Call Numbers:T0331617 , T0330895
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Books
Gay men at the millennium : sex, spirit, community / edited by Michael Lowenthal.
Publisher:New York : Jeremy P. Tarcher/Putnam, c1997.
Call Numbers:N305.389664/32
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Books
Contemporary curtain wall architecture / Scott Murray.
Author / Creator:Murray, Scott (Scott Charles), 1971-
Publisher:New York : Princeton Architectural Press, c2009.
Edition:1st ed.
Call Numbers:NQ721.2/9
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ebooks
The Princeton companion to mathematics [electronic resource] / editor, Timothy Gowers ; associate editors, June Barrow-Green, Imre Leader.
Publisher:Princeton : Princeton University Press, c2008.
Edition:Core Textbook
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Manuscripts | Clippings
Sub-series 1: Angus & Robertson book reviews in bound volumes, 1894-1970
Date:1894-1970
Call Numbers:MLMSS 3269/Box 478-531
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ArticlesPeer ReviewedFull Text
Lamin a Truncation in Hutchinson-Gilford Progeria
Author / Creator:De Sandre-Giovannoli, Annachiara ; Bernard, Rafaëlle ; Cau, Pierre ; Navarro, Claire ; Amiel, Jeanne ; Boccaccio, Irène ; Lyonnet, Stanislas ; Stewart, Colin L. ; Munnich, Arnold ; Le Merrer, Martine ; Lévy, Nicolas
Publisher:Washington, DC: American Association for the Advancement of Science
Journal title:Science (American Association for the Advancement of Science), 2003-06, Vol.300 (5628), p.2055-2055
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ArticlesPeer ReviewedFull Text
Deregulation of the protocadherin gene FAT1 alters muscle shapes: implications for the pathogenesis of facioscapulohumeral dystrophy
Author / Creator:Caruso, Nathalie ; Herberth, Balàzs ; Bartoli, Marc ; Puppo, Francesca ; Dumonceaux, Julie ; Zimmermann, Angela ; Denadai, Simon ; Lebossé, Marie ; Roche, Stephane ; Geng, Linda ; Magdinier, Frederique ; Attarian, Shahram ; Bernard, Rafaelle ; Maina, Flavio ; Levy, Nicolas ; Helmbacher, Françoise
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2013-06, Vol.9 (6), p.e1003550-e1003550
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ArticlesPeer ReviewedFull Text
Next generation sequencing for molecular diagnosis of neuromuscular diseases
Author / Creator:Vasli, Nasim ; Böhm, Johann ; Le Gras, Stéphanie ; Muller, Jean ; Pizot, Cécile ; Jost, Bernard ; Echaniz-Laguna, Andoni ; Laugel, Vincent ; Tranchant, Christine ; Bernard, Rafaelle ; Plewniak, Frédéric ; Vicaire, Serge ; Levy, Nicolas ; Chelly, Jamel ; Mandel, Jean-Louis ; Biancalana, Valérie ; Laporte, Jocelyn
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:Acta neuropathologica, 2012-08, Vol.124 (2), p.273-283
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ArticlesPeer ReviewedFull Text
Type 1 FSHD with 6-10 Repeated Units: Factors Underlying Severity in Index Cases and Disease Penetrance in Their Relatives Attention
Author / Creator:Salort-Campana, Emmanuelle ; Fatehi, Farzad ; Beloribi-Djefaflia, Sadia ; Roche, Stéphane ; Nguyen, Karine ; Bernard, Rafaelle ; Cintas, Pascal ; Solé, Guilhem ; Bouhour, Françoise ; Ollagnon, Elisabeth ; Sacconi, Sabrina ; Echaniz-Laguna, Andoni ; Kuntzer, Thierry ; Levy, Nicolas ; Magdinier, Frédérique ; Attarian, Shahram
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2020-03, Vol.21 (6), p.2221
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ArticlesPeer ReviewedFull Text
Effect of ascorbic acid in patients with Charcot–Marie–Tooth disease type 1A: a multicentre, randomised, double-blind, placebo-controlled trial
Author / Creator:Micallef, Joëlle, MD ; Attarian, Shahram, MD ; Dubourg, Odile, MD ; Gonnaud, Pierre-Marie, MD ; Hogrel, Jean-Yves, PhD ; Stojkovic, Tanya, MD ; Bernard, Rafaelle, PhD ; Jouve, Elisabeth, BSN ; Pitel, Severine, PhD ; Vacherot, Francois, PT ; Remec, Jean-Francois, PT ; Jomir, Laurent, MD ; Azabou, Eric, MD ; Al-Moussawi, Mahmoud, MD ; Lefebvre, Marie-Noelle, MD ; Attolini, Laurence, PhD ; Yaici, Sadek, MD ; Tanesse, Daniel ; Fontes, Michel, PhD ; Pouget, Jean, MD ; Blin, Olivier, MD
Publisher:England: Elsevier Ltd
Journal title:Lancet neurology, 2009-12, Vol.8 (12), p.1103-1110
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ArticlesPeer ReviewedFull Text
Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report
Author / Creator:Gaillard, Marie-Cécile ; Puppo, Francesca ; Roche, Stéphane ; Dion, Camille ; Campana, Emmanuelle Salort ; Mariot, Virginie ; Chaix, Charlene ; Vovan, Catherine ; Mazaleyrat, Killian ; Tasmadjian, Armand ; Bernard, Rafaelle ; Dumonceaux, Julie ; Attarian, Shahram ; Lévy, Nicolas ; Nguyen, Karine ; Magdinier, Frédérique ; Bartoli, Marc
Publisher:England: BioMed Central Ltd
Journal title:BMC medical genetics, 2016-09, Vol.17 (1), p.66-66, Article 66
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ArticlesPeer ReviewedFull Text
Deciphering the complexity of the 4q and 10q subtelomeres by molecular combing in healthy individuals and patients with facioscapulohumeral dystrophy
Author / Creator:Nguyen, Karine ; Broucqsault, Natacha ; Chaix, Charlene ; Roche, Stephane ; Robin, Jérôme D ; Vovan, Catherine ; Gerard, Laurene ; Mégarbané, André ; Urtizberea, Jon Andoni ; Bellance, Remi ; Barnérias, Christine ; David, Albert ; Eymard, Bruno ; Fradin, Melanie ; Manel, Véronique ; Sacconi, Sabrina ; Tiffreau, Vincent ; Zagnoli, Fabien ; Cuisset, Jean-Marie ; Salort-Campana, Emmanuelle ; Attarian, Shahram ; Bernard, Rafaëlle ; Lévy, Nicolas ; Magdinier, Frederique
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2019-09, Vol.56 (9), p.590-601
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ArticlesPeer ReviewedFull Text
The French National Registry of patients with Facioscapulohumeral muscular dystrophy
Author / Creator:Guien, Céline ; Blandin, Gaëlle ; Lahaut, Pauline ; Sanson, Benoît ; Nehal, Katia ; Rabarimeriarijaona, Sitraka ; Bernard, Rafaëlle ; Lévy, Nicolas ; Sacconi, Sabrina ; Béroud, Christophe
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2018-12, Vol.13 (1), p.218-218, Article 218
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ArticlesPeer ReviewedFull Text
Facioscapulohumeral dystrophy weakened sarcomeric contractility is mimicked in induced pluripotent stem cells‐derived innervated muscle fibres
Author / Creator:Laberthonnière, Camille ; Novoa‐del‐Toro, Elva‐Maria ; Delourme, Mégane ; Chevalier, Raphaël ; Broucqsault, Natacha ; Mazaleyrat, Kilian ; Streichenberger, Nathalie ; Manel, Véronique ; Bernard, Rafaëlle ; Salort Campana, Emmanuelle ; Attarian, Shahram ; Nguyen, Karine ; Robin, Jérôme D. ; Baudot, Anais ; Magdinier, Frédérique
Publisher:Germany: John Wiley & Sons, Inc
Journal title:Journal of cachexia, sarcopenia and muscle, 2022-02, Vol.13 (1), p.621-635
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ArticlesPeer ReviewedFull Text
Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies
Author / Creator:Nguyen, Karine ; Bassez, Guillaume ; Bernard, Rafaëlle ; Krahn, Martin ; Labelle, Véronique ; Figarella-Branger, Dominique ; Pouget, Jean ; Hammouda, El Hadi ; Béroud, Christophe ; Urtizberea, Andoni ; Eymard, Bruno ; Leturcq, France ; Lévy, Nicolas
Publisher:Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Journal title:Human mutation, 2005-08, Vol.26 (2), p.165-165
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ArticlesPeer ReviewedFull Text
Rhinal hypometabolism on FDG PET in healthy APO-E4 carriers: impact on memory function and metabolic networks
Author / Creator:Didic, Mira ; Felician, Olivier ; Gour, Natalina ; Bernard, Rafaelle ; Pécheux, Christophe ; Mundler, Olivier ; Ceccaldi, Mathieu ; Guedj, Eric
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:European journal of nuclear medicine and molecular imaging, 2015-09, Vol.42 (10), p.1512-1521
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ArticlesPeer ReviewedFull Text
New multiplex PCR-based protocol allowing indirect diagnosis of FSHD on single cells: can PGD be offered despite high risk of recombination?
Author / Creator:Barat-Houari, Mouna ; Nguyen, Karine ; Bernard, Rafaëlle ; Fernandez, Céline ; Vovan, Catherine ; Bareil, Corinne ; Van Kien, Philippe Khau ; Thorel, Delphine ; Tuffery-Giraud, Sylvie ; Vasseur, Francis ; Attarian, Shahram ; Pouget, Jean ; Girardet, Anne ; Lévy, Nicolas ; Claustres, Mireille
Publisher:Cham: Springer International Publishing
Journal title:European journal of human genetics : EJHG, 2010-05, Vol.18 (5), p.533-538
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Impostures innocentes [electronic resource] : or, a collection of prints from the most celebrated painters, viz. Rafael, Guido, Carlo Maratti, Poussin, Rembrandt, &c. Engraved in imitation of these ma...

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Trujillo : the death of the Goat / Bernard Diederich.

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Kronungsmesse. Spatzenmesse. Exsultate, jubilate [sound recording] / Wolfgang Amadeus Mozart.

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The glory that was Grub Street : impressions of contemporary authors / by St. John Adcock ; with thirty-two camera studies by E.O. Hoppé.

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Gay men at the millennium : sex, spirit, community / edited by Michael Lowenthal.

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Contemporary curtain wall architecture / Scott Murray.

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The Princeton companion to mathematics [electronic resource] / editor, Timothy Gowers ; associate editors, June Barrow-Green, Imre Leader.

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Sub-series 1: Angus & Robertson book reviews in bound volumes, 1894-1970

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Lamin a Truncation in Hutchinson-Gilford Progeria

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Deregulation of the protocadherin gene FAT1 alters muscle shapes: implications for the pathogenesis of facioscapulohumeral dystrophy

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Next generation sequencing for molecular diagnosis of neuromuscular diseases

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Type 1 FSHD with 6-10 Repeated Units: Factors Underlying Severity in Index Cases and Disease Penetrance in Their Relatives Attention

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Effect of ascorbic acid in patients with Charcot–Marie–Tooth disease type 1A: a multicentre, randomised, double-blind, placebo-controlled trial

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Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report

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Deciphering the complexity of the 4q and 10q subtelomeres by molecular combing in healthy individuals and patients with facioscapulohumeral dystrophy

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The French National Registry of patients with Facioscapulohumeral muscular dystrophy

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Facioscapulohumeral dystrophy weakened sarcomeric contractility is mimicked in induced pluripotent stem cells‐derived innervated muscle fibres

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Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies

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Rhinal hypometabolism on FDG PET in healthy APO-E4 carriers: impact on memory function and metabolic networks

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New multiplex PCR-based protocol allowing indirect diagnosis of FSHD on single cells: can PGD be offered despite high risk of recombination?

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