Søgeresultater - Élise Schaefer
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Porn Studies af Rich Cante, Constance Pen- Ley, Angelo Restivo, Élise Schaefer
Udgivet 2004Livro -
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Breastfeeding Outcome Comparison by Parity af Nicole M. Hackman, Élise Schaefer, Jessica S. Beiler, Chelsea M. Rose, Ian M. Paul
Udgivet 2014Artigo -
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New perspectives on community-acquired pneumonia in 388 406 patients. Results from a nationwide mandatory performance measurement programme in healthcare quality af Santiago Ewig, Norbert Birkner, Richard Strauß, Élise Schaefer, J Pauletzki, Helge Bischoff, Paul Schraeder, Tobias Welte, Gert Hoeffken
Udgivet 2009Artigo -
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Association of Preoperative Anti–Tumor Necrosis Factor Therapy With Adverse Postoperative Outcomes in Patients Undergoing Abdominal Surgery for Ulcerative Colitis af Audrey S. Kulaylat, Afif N. Kulaylat, Élise Schaefer, Andrew Tinsley, Emmanuelle Williams, Walter A. Koltun, Christopher S. Hollenbeak, Evangelos Messaris
Udgivet 2017Artigo -
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Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome af 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
Udgivet 2014Artigo -
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Primary Osteoporosis in Young Adults: Genetic Basis and Identification of Novel Variants in Causal Genes af Corinne Collet, Agnès Ostertag, Manon Ricquebourg, Marine Delecourt, Giulia Tueur, Bertrand Isidor, Pascale V. Guillot, Élise Schaefer, Rose‐Marie Javier, Thomas Funck‐Brentano, Philippe Orcel, Jean Laplanche, Martine Cohen‐Solal
Udgivet 2017Artigo -
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Exome sequencing of Bardet–Biedl syndrome patient identifies a null mutation in the BBSome subunit<i>BBIP1</i>(<i>BBS18</i>) af Sophie Scheidecker, Christelle Etard, Nathan W. Pierce, Véronique Geoffroy, Élise Schaefer, Jean Muller, Kirsley Chennen, Elisabeth Flori, Valérie Pelletier, Olivier Poch, Vincent Marion, Corinne Stoetzel, Uwe Strähle, Maxence V. Nachury, Hélène Dollfus
Udgivet 2013Artigo -
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Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis af Francesca Mattioli, Élise Schaefer, Alex Magee, Paul R. Mark, Grazia M.S. Mancini, Klaus Dieterich, Gretchen Von Allmen, Mariëlle Alders, Charles Coutton, Marjon van Slegtenhorst, Gaëlle Vieville, Marc Engelen, Jan Maarten Cobben, Jane Juusola, Aurora Pujol, Jean‐Louis Mandel, Amélie Piton
Udgivet 2016Artigo -
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Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly af Élise Schaefer, Ariane Zaloszyc, Julia Lauer, M. Durand, Fanny Stutzmann, Y. Perdomo-Trujillo, Claire Redin, V. Bennouna Greene, Annick Toutain, Laurence Perrin, Marion Gérard, Sophie Caillard, Xiaoshu Bei, Richard A. Lewis, D Christmann, J. Letsch, M. Kribs, Catherine Schmidt‐Mutter, Jean Muller, Corinne Stoetzel, Michel Fischbach, Vincent Marion, Nicholas Katsanis, Hélène Dollfus
Udgivet 2010Artigo -
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Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract af Laurence Heidet, Vincent Morinière, C. Henry, Lara De Tomasi, Madeline Louise Reilly, Camille Humbert, Olivier Alibeu, Cécile Fourrage, Christine Bôle‐Feysot, Patrick Nitschké, Frédéric Torès, Marc Bras, Marc Jeanpierre, Christine Piétrement, Dominique Gaillard, Marie Gonzalès, Robert Novo, Élise Schaefer, J. Roume, Jéléna Martinovic, Valérie Malan, Rémi Salomon, Sophie Saunier, Corinne Antignac, Marc Jeanpierre
Udgivet 2017Artigo -
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Proteasome subunit <i>PSMC3</i> variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress af Ariane Kröll‐Hermi, Frédéric Ebstein, Corinne Stoetzel, Véronique Geoffroy, Élise Schaefer, Sophie Scheidecker, Séverine Bär, Masanari Takamiya, Koichi Kawakami, Barbara A. Zieba, Fouzia Studer, Valérie Pelletier, C. Eyermann, Claude Speeg‐Schatz, Vincent Laugel, Dan Lipsker, Florian Sandron, Steven McGinn, Anne Boland, Jean‐François Deleuze, Lauriane Kühn, Johana Chicher, Philippe Hammann, Sylvie Friant, Christelle Etard, Elke Krüger, Jean Muller, Uwe Strähle, Hélène Dollfus
Udgivet 2020Artigo
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