Homozygous TRAPPC11 truncating variant revealing segmental uniparental disomy of chromosome 4 as a cause of a recessive limb‐girdle muscular dystrophy‐18
Hadouiri, Nawale, Thomas, Quentin, Darmency, Véronique, Dulieu, Véronique, De Rougemont, Marie‐Gabrielle Mourot, Bruel, Ange‐Line, Duffourd, Yannis, Lecoquierre, François, Colomb, Benoit, Perez‐Martin, Stéphanie, Ornetti, Paul, Blanchard, Olivier, Sorlin, Arthur, Philippe, Christophe, Faivre, Laurence, Vitobello, Antonio, Thauvin‐Robinet, Christel
Published in Clinical genetics (01.11.2021)
Published in Clinical genetics (01.11.2021)
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The accuracy of various neuro-prognostication algorithms and the added value of neurofilament light chain dosage for patients resuscitated from shockable cardiac arrest: An ancillary analysis of the ISOCRATE study
Pouplet, Caroline, Colin, Gwenhael, Guichard, Elie, Reignier, Jean, Le Gouge, Amélie, Martin, Stéphanie, Lacherade, Jean-Claude, Lascarrou, Jean-Baptiste
Published in Resuscitation (01.02.2022)
Published in Resuscitation (01.02.2022)
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Sudden Infant Death Associated with Rhinovirus Infection
Auvray, Christelle, Perez-Martin, Stéphanie, Schuffenecker, Isabelle, Pitoiset, Cécile, Tarris, Georges, Ambert-Balay, Katia, Martin, Laurent, Dullier-Taillefumier, Nathalie, Bour, Jean-Baptiste, Manoha, Catherine
Published in Viruses (01.04.2024)
Published in Viruses (01.04.2024)
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Impact of rewarming rate on interleukin-6 levels in patients with shockable cardiac arrest receiving targeted temperature management at 33 °C: the ISOCRATE pilot randomized controlled trial
Lascarrou, Jean-Baptiste, Guichard, Elie, Reignier, Jean, Le Gouge, Amélie, Pouplet, Caroline, Martin, Stéphanie, Lacherade, Jean-Claude, Colin, Gwenhael
Published in Critical care (London, England) (17.12.2021)
Published in Critical care (London, England) (17.12.2021)
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Pulmonary Hypertension and Pregnancy
Martin, Stephanie R, Edwards, Alexandra
Published in Obstetrics and gynecology (New York. 1953) (01.11.2019)
Published in Obstetrics and gynecology (New York. 1953) (01.11.2019)
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Weighing Scale-Based Pulse Transit Time is a Superior Marker of Blood Pressure than Conventional Pulse Arrival Time
Martin, Stephanie L-O, Carek, Andrew M, Kim, Chang-Sei, Ashouri, Hazar, Inan, Omer T, Hahn, Jin-Oh, Mukkamala, Ramakrishna
Published in Scientific reports (15.12.2016)
Published in Scientific reports (15.12.2016)
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9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping
Nambot, Sophie, Masurel, Alice, El Chehadeh, Salima, Mosca-Boidron, Anne-Laure, Thauvin-Robinet, Christel, Lefebvre, Mathilde, Marle, Nathalie, Thevenon, Julien, Perez-Martin, Stéphanie, Dulieu, Véronique, Huet, Frédéric, Plessis, Ghislaine, Andrieux, Joris, Jouk, Pierre-Simon, Billy-Lopez, Gipsy, Coutton, Charles, Morice-Picard, Fanny, Delrue, Marie-Ange, Heron, Delphine, Rooryck, Caroline, Goldenberg, Alice, Saugier-Veber, Pascale, Joly-Hélas, Géraldine, Calenda, Patricia, Kuentz, Paul, Manouvrier-Hanu, Sylvie, Dupuis-Girod, Sophie, Callier, Patrick, Faivre, Laurence
Published in European journal of human genetics : EJHG (01.06.2016)
Published in European journal of human genetics : EJHG (01.06.2016)
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Analysis of RhCE variants among 806 individuals in France: considerations for transfusion safety, with emphasis on patients with sickle cell disease
Pham, Bach-Nga, Peyrard, Thierry, Juszczak, Genevieve, Beolet, Marylise, Deram, Geneviève, Martin-Blanc, Stéphanie, Dubeaux, Isabelle, Roussel, Michèle, Kappler-Gratias, Sandrine, Gien, Dominique, Poupel, Sylvie, Rouger, Philippe, Le Pennec, Pierre-Yves
Published in Transfusion (Philadelphia, Pa.) (01.06.2011)
Published in Transfusion (Philadelphia, Pa.) (01.06.2011)
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Clinical and Molecular Spectrum of Renal Malformations in Kabuki Syndrome
Courcet, Jean-Benoît, MD, Faivre, Laurence, MD, PhD, Michot, Caroline, MD, Burguet, Antoine, MD, PhD, Perez-Martin, Stéphanie, MD, Alix, Eudeline, MSc, Amiel, Jeanne, MD, PhD, Baumann, Clarisse, MD, Cordier, Marie-Pierre, MD, Cormier-Daire, Valérie, MD, PhD, Delrue, Marie Ange, MD, Gilbert-Dussardier, Brigitte, MD, PhD, Goldenberg, Alice, MD, Jacquemont, Marie-Line, MD, Jaquette, Aurélia, MD, Kayirangwa, Honorine, MSc, Lacombe, Didier, MD, PhD, Le Merrer, Martine, MD, PhD, Toutain, Annick, MD, PhD, Odent, Sylvie, MD, PhD, Moncla, Anne, MD, PhD, Pelet, Anna, PhD, Philip, Nicole, MD, PhD, Pinson, Lucille, MD, Poisson, Sylvain, MSc, Kim-Han, Le Quan Sang, MD, Roume, Joelle, MD, Sanchez, Elodie, MSc, Willems, Marjolaine, MD, Till, Marianne, MD, Vincent-Delorme, Catherine, MD, Mousson, Christiane, MD, PhD, Vinault, Sandrine, MSc, Binquet, Christine, MD, PhD, Huet, Frédéric, MD, PhD, Sarda, Pierre, MD, PhD, Salomon, Rémi, MD, PhD, Lyonnet, Stanislas, MD, PhD, Sanlaville, Damien, MD, PhD, Geneviève, David, MD, PhD
Published in The Journal of pediatrics (01.09.2013)
Published in The Journal of pediatrics (01.09.2013)
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Identification of novel silent KEL alleles causing KEL:−5 (Ko) phenotype or discordance between KEL:1,−2 phenotype/KEL01/02 genotype
Martin-Blanc, Stéphanie, Simon, Philippe, Gien, Dominique, Kappler-Gratias, Sandrine, Le Pennec, Pierre-Yves, Pham, Bach-Nga
Published in Transfusion (Philadelphia, Pa.) (01.11.2013)
Published in Transfusion (Philadelphia, Pa.) (01.11.2013)
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VEB-1 in Achromobacter xylosoxidans from cystic fibrosis patient, France
Neuwirth, Catherine, Freby, Carine, Ogier-Desserrey, Agathe, Perez-Martin, Stéphanie, Houzel, Anne, Péchinot, André, Duez, Jean-Marie, Huet, Fréderic, Siebor, Eliane
Published in Emerging infectious diseases (01.11.2006)
Published in Emerging infectious diseases (01.11.2006)
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Maternal morbidity in patients with morbidly adherent placenta treated with and without a standardized multidisciplinary approach
Shamshirsaz, Alireza A., MD, Fox, Karin A., MD, Salmanian, Bahram, MD, Diaz-Arrastia, Concepcion R., MD, Lee, Wesley, MD, Baker, B. Wycke, MD, Ballas, Jerasimos, MD, Chen, Qian, MD, Van Veen, Teelkien R., MD, Javadian, Pouya, MD, Sangi-Haghpeykar, Haleh, PhD, Zacharias, Nicholas, MD, Welty, Stephen, MD, Cassady, Christopher I., MD, Moaddab, Amirhossein, MD, Popek, Edwina J., DO, Hui, Shiu-ki Rocky, MD, Teruya, Jun, MD, DSc, Bandi, Venkata, MD, Coburn, Michael, MD, Cunningham, Thomas, RN, Martin, Stephanie R., MD, Belfort, Michael A., MD, PhD
Published in American journal of obstetrics and gynecology (01.02.2015)
Published in American journal of obstetrics and gynecology (01.02.2015)
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Introduction: A family systems approach to promote maternal, child and adolescent nutrition
Aubel, Judi, Martin, Stephanie L., Cunningham, Kenda
Published in Maternal and child nutrition (01.07.2021)
Published in Maternal and child nutrition (01.07.2021)
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Global Drivers on Southern Ocean Ecosystems: Changing Physical Environments and Anthropogenic Pressures in an Earth System
Morley, Simon A., Abele, Doris, Barnes, David K. A., Cárdenas, César A., Cotté, Cedric, Gutt, Julian, Henley, Sian F., Höfer, Juan, Hughes, Kevin A., Martin, Stephanie M., Moffat, Carlos, Raphael, Marilyn, Stammerjohn, Sharon E., Suckling, Coleen C., Tulloch, Vivitskaia J. D., Waller, Cath L., Constable, Andrew J.
Published in Frontiers in Marine Science (15.12.2020)
Published in Frontiers in Marine Science (15.12.2020)
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Imagined speech can be decoded from low- and cross-frequency intracranial EEG features
Proix, Timothée, Delgado Saa, Jaime, Christen, Andy, Martin, Stephanie, Pasley, Brian N, Knight, Robert T, Tian, Xing, Poeppel, David, Doyle, Werner K, Devinsky, Orrin, Arnal, Luc H, Mégevand, Pierre, Giraud, Anne-Lise
Published in Nature communications (10.01.2022)
Published in Nature communications (10.01.2022)
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