Risultati della ricerca - Sandrine Marlin
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A form of circulating ICAM-1 in human serum. di Robert Rothlein, Elizabeth A. Mainolfi, Michele Czajkowski, Sandrine Marlin
Pubblicazione 1991Artigo -
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Review and update of mutations causing Waardenburg syndrome di Véronique Pingault, D. Ente, Florence Dastot‐Le Moal, Michel Goossens, Sandrine Marlin, Nadège Bondurand
Pubblicazione 2010Revisão -
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Induction of intercellular adhesion molecule 1 on primary and continuous cell lines by pro-inflammatory cytokines. Regulation by pharmacologic agents and neutralizing antibodies. di Robert Rothlein, Michele Czajkowski, Maeve O'Neill, Sandrine Marlin, Elizabeth A. Mainolfi, V J Merluzzi
Pubblicazione 1988Artigo -
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Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations di Pauline Krug, Vincent Morinière, Sandrine Marlin, Valérie Koubi, Heinz Gabriel, Estelle Colin, Dominique Bonneau, Rémi Salomon, Corinne Antignac, Laurence Heidet
Pubblicazione 2010Artigo -
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Loss‐of‐function and residual channel activity of connexin26 mutations associated with non‐syndromic deafness di Roberto Bruzzone, Valentina Veronesi, D. Gomès, Massimiliano Bicego, Nathalie Duval, Sandrine Marlin, Christine Petit, Paola D’Andrea, Thomas W. White
Pubblicazione 2002Artigo -
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Spectrum of Temporal Bone Abnormalities in Patients with Waardenburg Syndrome and<i>SOX10</i>Mutations di Monique Elmaleh, Clarisse Baumann, N. Noël‐Pétroff, A. Sekkal, V. Couloigner, Koenraad Devriendt, Meredith Wilson, Sandrine Marlin, G. Sebag, Véronique Pingault
Pubblicazione 2012Artigo -
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Evaluation of Cytomegalovirus (CMV) DNA Quantification in Dried Blood Spots: Retrospective Study of CMV Congenital Infection di Christelle Vauloup‐Fellous, Aurélie Ducroux, V. Couloigner, Sandrine Marlin, Olivier Picone, Julie Galimand, Natalie Loundon, Françoise Denoyelle, L. Grangeot‐Keros, Marianne Leruez‐Ville
Pubblicazione 2007Artigo -
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Mutations in<i>SNRPB</i>, Encoding Components of the Core Splicing Machinery, Cause Cerebro-Costo-Mandibular Syndrome di Séverine Bacrot, Mathilde Doyard, Céline Huber, Olivier Alibeu, Niklas Feldhahn, Daphné Lehalle, Didier Lacombe, Sandrine Marlin, Patrick Nitschké, Florence Petit, Marie‐Paule Vazquez, Arnold Münnich, Valérie Cormier‐Daire
Pubblicazione 2014Artigo -
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The <scp>CD</scp>2 isoform of protocadherin‐15 is an essential component of the tip‐link complex in mature auditory hair cells di Elise Pepermans, Vincent Michel, Richard J. Goodyear, Crystel Bonnet, Samia Abdi, Typhaine Dupont, Souad Gherbi, Muriel Holder, Mohamed Makrelouf, Jean‐Pierre Hardelin, Sandrine Marlin, Akila Zenati, Guy P. Richardson, Paul Avan, Amel Bahloul, Christine Petit
Pubblicazione 2014Artigo -
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Mutations in <i>NALP12</i> cause hereditary periodic fever syndromes di Isabelle Jéru, Philippe Duquesnoy, Teresa Fernandes‐Alnemri, Emmanuelle Cochet, Je‐Wook Yu, Marilyn Lackmy-Port-Lis, E. Grimprel, Judith Landman‐Parker, Véronique Hentgen, Sandrine Marlin, Ken McElreavey, Tamara Sarkisian, Gilles Grateau, Emad S. Alnemri, Serge Amselem
Pubblicazione 2008Artigo -
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An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature di 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
Pubblicazione 2016Revisão -
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Dopachrome tautomerase variants in patients with oculocutaneous albinism di Perrine Pennamen, Angèle Tingaud‐Sequeira, Iveta Gažová, Margaret Keighren, Lisa McKie, Sandrine Marlin, Souad Gherbi Halem, Josseline Kaplan, Cédric Delevoye, Didier Lacombe, Claudio Plaisant, Vincent Michaud, Eulalie Lasseaux, Sophie Javerzat, Ian J. Jackson, Benoı̂t Arveiler
Pubblicazione 2020Artigo -
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Deletions at the SOX10 Gene Locus Cause Waardenburg Syndrome Types 2 and 4 di Nadège Bondurand, Florence Dastot‐Le Moal, Laure Stanchina, Nathalie Collot, Viviane Baral, Sandrine Marlin, Tania Attié‐Bitach, Irina Giurgea, Laurent Skopinski, William Reardon, Annick Toutain, Pierre Sarda, Echaieb Anis, Marilyn Lackmy-Port-Lis, Renaud Touraine, Jeanne Amiel, Michel Goossens, Véronique Pingault
Pubblicazione 2007Artigo -
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Loss-of-Function Mutations in SOX10 Cause Kallmann Syndrome with Deafness di Véronique Pingault, Virginie Bodereau, Viviane Baral, Séverine Marcos, Yuli Watanabe, Asma Chaoui, Corinne Fouveaut, Chrystel Leroy, O. Vérier‐Mine, Christine Francannet, Delphine Dupin‐Deguine, F. Archambeaud, François-Joseph Kurtz, Jacques Young, Jérôme Bertherat, Sandrine Marlin, Michel Goossens, Jean‐Pierre Hardelin, Catherine Dodé, Nadège Bondurand
Pubblicazione 2013Artigo
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Soggetti correlati
Biology
Genetics
Gene
Medicine
Mutation
Phenotype
Audiology
Biochemistry
Cell biology
Molecular biology
Anatomy
Hearing loss
Antibody
Bioinformatics
Exome sequencing
Internal medicine
Missense mutation
Cell
Chemistry
Disease
Exon
Genotype
Glycoprotein
Immunology
Intracellular
Monoclonal antibody
Mutant
SOX10
Sanger sequencing
Virology