Loss of α1β1 Soluble Guanylate Cyclase, the Major Nitric Oxide Receptor, Leads to Moyamoya and Achalasia von Hervé, Dominique, Philippi, Anne, Belbouab, Reda, Zerah, Michel, Chabrier, Stéphane, Collardeau-Frachon, Sophie, Bergametti, Francoise, Essongue, Aurore, Berrou, Eliane, Krivosic, Valérie, Sainte-Rose, Christian, Houdart, Emmanuel, Adam, Frédéric, Billiemaz, Kareen, Lebret, Marilyne, Roman, Sabine, Passemard, Sandrine, Boulday, Gwenola, Delaforge, Audrey, Guey, Stéphanie, Dray, Xavier, Chabriat, Hugues, Brouckaert, Peter, Bryckaert, Maryjke, Tournier-Lasserve, Elisabeth

Volltext

AICA-ribosiduria due toATICdeficiency: Delineation of the phenotype with three novel cases, and long-term update on the first case von Ramond, Francis, Rio, Marlene, Heron, Benedicte, Imbard, Apolline, Marie, Sandrine, Billiemaz, Kareen, Denomme-Pichon, Anne-Sophie, Kuentz, Paul, Ceballos, Irene, Piraud, Monique, Vincent, Marie-Francoise, Touraine, Renaud

Volltext

Loss of alpha 1 beta 1 Soluble Guanylate Cyclase, the Major Nitric Oxide Receptor, Leads to Moyamoya and Achalasia von Herve, Dominique, Philippi, Anne, Belbouab, Reda, Zerah, Michel, Chabrier, Stephane, Collardeau-Frachon, Sophie, Bergametti, Francoise, Essongue, Aurore, Berrou, Eliane, Krivosic, Valerie, Sainte-Rose, Christian, Houdart, Emmanuel, Adam, Frederic, Billiemaz, Kareen, Lebret, Marilyne, Roman, Sabine, Passemard, Sandrine, Boulday, Gwenola, Delaforge, Audrey, Guey, Stephanie, Dray, Xavier, Chabriat, Hugues, Brouckaert, Peter, Bryckaert, Maryjke, Tournier-Lasserve, Elisabeth

Volltext

AICA‐ribosiduria due to ATIC deficiency: Delineation of the phenotype with three novel cases, and long‐term update on the first case von Ramond, Francis, Rio, Marlène, Héron, Bénédicte, Imbard, Apolline, Marie, Sandrine, Billiemaz, Kareen, Denommé‐Pichon, Anne‐Sophie, Kuentz, Paul, Ceballos, Irène, Piraud, Monique, Vincent, Marie‐Françoise, Touraine, Renaud

Volltext

Functionally deficient TRPV6 variants contribute to hereditary and familial chronic pancreatitis von Hamada, Shin, Masson, Emmanuelle, Chen, Jian‐Min, Sakaguchi, Reiko, Rebours, Vinciane, Buscail, Louis, Matsumoto, Ryotaro, Tanaka, Yu, Kikuta, Kazuhiro, Kataoka, Fumiya, Sasaki, Akira, Le Rhun, Marc, Audin, Hela, Lachaux, Alain, Caumont, Bernard, Lorenzo, Diane, Billiemaz, Kareen, Besnard, Raphael, Koch, Stéphane, Lamireau, Thierry, De Koninck, Xavier, Génin, Emmanuelle, Cooper, David N., Mori, Yasuo, Masamune, Atsushi, Férec, Claude

Volltext

Severe infantile isolated exocrine pancreatic insufficiency caused by the complete functional loss of the SPINK1 gene von Venet, Théa, Masson, Emmanuelle, Talbotec, Cécile, Billiemaz, Kareen, Touraine, Renaud, Gay, Claire, Destombe, Sylvie, Cooper, David N., Patural, Hugues, Chen, Jian‐Min, Férec, Claude

Volltext

Clinical Remission and Psychological Management are Major Issues for the Quality of Life in Pediatric Crohn Disease von Gourdonneau, Anne, Bruneau, Lea, Ruemmele, Frank M., Norsa, Lorenzo, Takeda, Armelle, Le Gall, Catherine, Clouzeau, Haude, Rebouissoux, Laurent, Dabadie, Alain, Bridoux-Henno, Laure, Rebeuh, Julie, Thomassin, Nadege, Viala, Jerome, Willot, Stephanie, Breton, Anne, Coopman, Stephanie, Spyckerelle, Claire, Languepin, Jeanne, Bertrand, Valerie, Mouterde, Olivier, Degas, Vanessa, Bonneton, Marjorie, Lemale, Julie, Destombe, Sylvie, Billiemaz, Kareen, Caron, Nicolas, Borderon, Corinne, Dupont, Claire, Triolo, Valerie, Jobert, Agathe, Lamireau, Thierry, Enaud, Raphael

Volltext

Identification of protease-sensitive but not misfolding PNLIP variants in familial and hereditary pancreatitis von Masson, Emmanuelle, Berthet, Stéphanie, Le Gac, Gerald, Le Rhun, Marc, Ka, Chandran, Autret, Sandrine, Gourlaouen, Isabelle, Abrantes, Amandine, Aguilera Munoz, Lina, Albouys, Jérémie, Alric, Laurent, Amiot, Xavier, Archambeaud, Isabelle, Bastide, Laetitia, Baudon, Julien, Bellaiche, Guy, Bertrand, Valérie, Bideau, Karine, Billiemaz, Kareen, Billioud, Claire, Bonnefoy, Sabine, Borderon, Corinne, Bournet, Barbara, Breton, Estelle, Brugel, Mathias, Cadiot, Guillaume, Camus, Marine, Chamouard, Patrick, Chaput, Ulriikka, Cholet, Franck, Ciocan, Dragos Marius, Coffin, Benoit, Coimet-Berger, Laura, Daboussi, Oussama, Dalstein, Véronique, De Mestier, Louis, Degand, Thibault, Denis, Bernard, Desgrippes, Romain, Drouet d'Aubigny, Augustin, Enaud, Raphaël, Fabre, Alexandre, Gelsi, Eve, Gentilcore, Elena, Gincul, Rodica, Ginglinger-Favre, Emmanuelle, Gomercic, Cécile, Gondran, Hannah, Grandval, Philippe, Grasset, Denis, Grimbert, Sylvie, Heissat, Sophie, Hentic, Olivia, Herber-Mayne, Anne, Jacques, Jérémie, Jais, Bénédicte, Kaassis, Mehdi, Koch, Stéphane, Lacaze, Elodie, Lamireau, Thierry, Le Guillou, Xavier, Leblanc, Sarah, Levy, Philippe, Lievre, Astrid, Lorenzo, Diane, Marcel, Kévin, Matias, Clément, Mauillon, Jacques, Morgant, Stéphanie, Moussata, Driffa, Muller, Nelly, Napoleon, Bertrand, Olivier, Anne, Pagenault, Maël, Pelletier, Anne-laure, Pennec, Olivier, Pioche, Mathieu, Prost, Bénédicte, Queneherve, Lucille, Rebours, Vinciane, Rekik, Samia, Riachi, Ghassan, Rohmer, Barbara, Roquelaure, Bertrand, Rosa Hezode, Isabelle, Rostain, Florian, Saurin, Jean-Christophe, Servais, Laure, Stan-Iuga, Roxana, Subtil, Clément, Texier, Charles, Tougeron, David, Tsakiris, Laurent, Vuitton, Lucine, Wallenhorst, Timothée, Wangerme, Marc, Zerbib, Frank, Cooper, David N., Férec, Claude, Chen, Jian-Min

Volltext

Clinical Remission and Psychological Management are Major Issues for the Quality of Life in Pediatric Crohn Disease von Gourdonneau, Anne, Bruneau, Léa, Ruemmele, Frank M., Norsa, Lorenzo, Takeda, Armelle, Le Gall, Catherine, Clouzeau, Haude, Rebouissoux, Laurent, Dabadie, Alain, Bridoux‐Henno, Laure, Rebeuh, Julie, Thomassin, Nadège, Viala, Jérôme, Willot, Stéphanie, Breton, Anne, Coopman, Stéphanie, Spyckerelle, Claire, Languepin, Jeanne, Bertrand, Valérie, Mouterde, Olivier, Degas, Vanessa, Bonneton, Marjorie, Lemale, Julie, Destombe, Sylvie, Billiemaz, Kareen, Caron, Nicolas, Borderon, Corinne, Dupont, Claire, Triolo, Valérie, Jobert, Agathe, Lamireau, Thierry, Enaud, Raphaël

Volltext

The PRSS3P2 and TRY7 deletion copy number variant modifies risk for chronic pancreatitis von Masson, Emmanuelle, Ewers, Maren, Kume, Kiyoshi, Cooper, David N., Rebours, Vinciane, Rouault, Karen, Aguilera Munoz, Lina, Albouys, Jérémie, Archambeaud, Isabelle, Audiau, Solène, Bastide, Laetitia, Baudon, Julien, Bellon, Serge, Bertrand, Valérie, Bideau, Karine, Billiemaz, Kareen, Billioud, Claire, Bonnefoy, Sabine, Borderon, Corinne, Bournet, Barbara, Breton, Estelle, Brugel, Mathias, Camus, Marine, Carpentier-Pourquier, Marine, Chamouard, Patrick, Chaput, Ulriikka, Chen, Jian-Min, Cholet, Franck, Ciocan, Dragos Marius, Clavel, Christine, Coffin, Benoit, Coimet-Berger, Laura, Cosconea, Simona, Creveaux, Isabelle, Culetto, Adrian, Daboussi, Oussama, De Mestier, Louis, Degand, Thibault, D'engremont, Christelle, Denis, Bernard, Dermine, Solène, Desgrippes, Drouet D'Aubigny, Augustin, Fabre, Alexandre, Férec, Claude, Gelsi, Eve, Gentilcore, Elena, Gincul, Rodica, Ginglinger-Favre, Emmanuelle, Giovannini, Marc, Gomercic, Cécile, Gondran, Hannah, Grainville, Thomas, Grandval, Philippe, Grasset, Denis, Grimbert, Sylvie, Hentic, Olivia, Herber-Mayne, Anne, Hoibian, Solene, Jacques, Jérémie, Kaassis, Mehdi, Koch, Stéphane, Lacroute, Joël, Le Guillou, Xavier, Le Rhun, Marc, Leblanc, Sarah, Lorenzo, Diane, Maire, Frédérique, Mauillon, Jacques, Morgant, Stéphanie, Moussata, Driffa, Muller, Nelly, Olivier, Anne, Pagenault, Maël, Pelletier, Anne-laure, Pennec, Olivier, Pioche, Mathieu, Prost, Bénédicte, Queneherve, Lucille, Rebours, Vinciane, Rohmer, Barbara, Roquelaure, Bertrand, Rosa Hezode, Isabelle, Saurin, Jean-Christophe, Servais, Laure, Stan-Iuga, Roxana, Subtil, Clément, Tanneche, Jérémy, Texier, Charles, Tougeron, David, Vuitton, Lucine, Wallenhorst, Timothée, Wangerme, Marc, Bhaskar, Seema, Kikuta, Kazuhiro, Hamada, Shin, Reddy, D Nageshwar, Masamune, Atsushi, Witt, Heiko, Chen, Jian-Min

Volltext

Tocolysis in the management of preterm prelabor rupture of membranes at 22-33 weeks of gestation: study protocol for a multicenter, double-blind, randomized controlled trial compar... von Lorthe, Elsa, Kayem, Gilles

Volltext

Loss of α1β1 Soluble Guanylate Cyclase, the Major Nitric Oxide Receptor, Leads to Moyamoya and Achalasia von Hervé, Dominique, Philippi, Anne, Belbouab, Reda, Zerah, Michel, Chabrier, Stéphane, Collardeau-Frachon, Sophie, Bergametti, Francoise, Essongue, Aurore, Berrou, Eliane, Krivosic, Valérie, Sainte-Rose, Christian, Houdart, Emmanuel, Adam, Frédéric, Billiemaz, Kareen, Lebret, Marilyne, Roman, Sabine, Passemard, Sandrine, Boulday, Gwenola, Delaforge, Audrey, Guey, Stéphanie, Dray, Xavier, Chabriat, Hugues, Brouckaert, Peter, Bryckaert, Maryjke, Tournier-Lasserve, Elisabeth

Volltext

Two new mutations of the CLMP gene identified in a newborn presenting congenital short-bowel syndrome von Gonnaud, Lucile, Alves, Maria M, Cremillieux, Clara, Billiemaz, Kareen, Destombe, Sylvie, Varlet, François, Lopez, Manuel, Trapes, Laurène, Touraine, Renaud, Hofstra, Robert M.W, Patural, Hugues

Volltext

Loss of [alpha]1[Beta]1 Soluble Guanylate Cyclase, the Major Nitric Oxide Receptor, Leads to Moyamoya and Achalasia von Hervé, Dominique, Philippi, Anne, Belbouab, Reda, Zerah, Michel, Chabrier, Stéphane, Collardeau-Frachon, Sophie, Bergametti, Francoise, Essongue, Aurore, Berrou, Eliane, Krivosic, Valérie, Sainte-Rose, Christian, Houdart, Emmanuel, Adam, Frédéric, Billiemaz, Kareen, Lebret, Marilyne, Roman, Sabine, Passemard, Sandrine, Boulday, Gwenola, Delaforge, Audrey, Guey, Stéphanie, Dray, Xavier, Chabriat, Hugues, Brouckaert, Peter, Bryckaert, Maryjke, Tournier-Lasserve, Elisabeth

Volltext

Interruption of cART in Clinical Practice Is Associated With an Increase in the Long-Term Risk of Subsequent Immunosuppression in HIV-1-Infected Children von Aupiais, Camille, Faye, Albert, Le Chenadec, Jerome, Rouzioux, Christine, Bouallag, Naïma, Laurent, Corinne, Blanche, Stephane, Dollfus, Catherine, Warszawski, Josiane

Volltext