Not logged inImmunization coverage and timeliness of vaccination in young patients with inborn errors of metabolism: a French multicentric study
Renous, Anne-Sophie; Damaj, Lena; Gorce, Magali; Barth, Magalie; Bedu, Antoine; Sacaze, Elise; Lamireau, Delphine; Laroche-Raynaud, Cecile; Pasquier, Laurent; Maakaroun-Vermesse, Zoha; Tardieu, Marine; Labarthe, Francois .png)
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SaveStandardized emergency protocols to improve the management of patients with suspected or confirmed inherited metabolic disorders (IMDs): An initiative of the French IMDs Healthcare Network for Rare DiseasesBouchereau, Juliette; Wicker, Camille; Mention, Karine; Marbach, Clothilde; Do Cao, Jeremy; Berat, Claire-Marine; Jaroussie, Marianne; Cano, Aline; Gorce, Magali; Garros, Alexa; Kuster, Alice; Hoebeke, Celia; Mayer, Claire; Brassier, Anais; Gouya, Laurent; Schrimpf, Cecile; Arnoux, Jean-Baptiste; Schiff, Manuel; Acquaviva-Bourdain, Cecile; Benoist, Jean-Francois; Courapied, Sandy; Broue, Pierre; Oualha, Mehdi; Douillard, Claire; de Lonlay, Pascale Share Save The Severity of Congenital Hypothyroidism With Gland-In-Situ Predicts Molecular Yield by Targeted Next-Generation SequencingLevaillant, Lucie; Bouhours-Nouet, Natacha; Illouz, Frederic; Jager, Jessica Amsellem; Bachelot, Anne; Barat, Pascal; Baron, Sabine; Bensignor, Candace; de la Perriere, Aude Brac; Djellas, Yasmine Braik; Caillot, Morgane; Caldagues, Emmanuelle; Campas, Marie-Neige; Caquard, Marylene; Cartault, Audrey; Cheignon, Julie; Decrequy, Anne; Delemer, Brigitte; Dieckmann, Katherine; Donzeau, Aurelie; Doye, Emilie; Fradin, Melanie; Gaudilliere, Melanie; Gatelais, Frederique; Gorce, Magali; Hazart, Isabelle; Houcinat, Nada; Houdon, Laure; Ister-Salome, Marielle; Jozwiak, Lucie; Jeannoel, Patrick; Labarthe, Francois; Lacombe, Didier; Lambert, Anne-Sophie; Lefevre, Christine; Leheup, Bruno; Leroy, Clara; Maisonneuve, Benedicte; Marchand, Isis; Marquant, Emeline; Muszlak, Matthias; Pantalone, Letitia; Pochelu, Sandra; Quelin, Chloe; Radet, Catherine; Renoult-Pierre, Peggy; Reynaud, Rachel; Rouleau, Stephanie; Teinturier, Cecile; Thevenon, Julien; Turlotte, Caroline; Valle, Aline; Vierge, Melody; Villanueva, Carine; Ziegler, Alban; Dieu, Xavier; Bouzamondo, Nathalie; Rodien, Patrice; Prunier-Mirebeau, Delphine; Coutant, Regis Share Save Three-Country Snapshot of Ornithine Transcarbamylase DeficiencySeker Yilmaz, Berna; Baruteau, Julien; Arslan, Nur; Aydin, Halil Ibrahim; Barth, Magalie; Bozaci, Ayse Ergul; Brassier, Anais; Canda, Ebru; Cano, Aline; Chronopoulou, Efstathia; Connolly, Grainne M.; Damaj, Lena; Dawson, Charlotte; Dobbelaere, Dries; Douillard, Claire; Eminoglu, Fatma Tuba; Erdol, Sahin; Ersoy, Melike; Fang, Sherry; Feillet, Francois; Gokcay, Gulden; Goksoy, Emine; Gorce, Magali; Inci, Asli; Kadioglu, Banu; Kardas, Fatih; Kasapkara, Cigdem Seher; Kilic Yildirim, Gonca; Kor, Deniz; Kose, Melis; Marelli, Cecilia; Mundy, Helen; O'Sullivan, Siobhan; Ozturk Hismi, Burcu; Ramachandran, Radha; Roubertie, Agathe; Sanlilar, Mehtap; Schiff, Manuel; Sreekantam, Srividya; Stepien, Karolina M.; Uzun Unal, Ozlem; Yildiz, Yilmaz; Zubarioglu, Tanyel; Gissen, Paul Share Save PIGN encephalopathy: Characterizing the epileptologyBayat, Allan; Valles-Ibanez, Guillem; Pendziwiat, Manuela; Knaus, Alexej; Alt, Kerstin; Biamino, Elisa; Bley, Annette; Calvert, Sophie; Carney, Patrick; Caro-Llopis, Alfonso; Ceulemans, Berten; Cousin, Janice; Davis, Suzanne; Portes, Vincent; Edery, Patrick; England, Eleina; Ferreira, Carlos; Freeman, Jeremy; Gener, Blanca; Gorce, Magali; Heron, Delphine; Hildebrand, Michael S.; Jezela-Stanek, Aleksandra; Jouk, Pierre-Simon; Keren, Boris; Kloth, Katja; Kluger, Gerhard; Kuhn, Marius; Lemke, Johannes R.; Li, Hong; Martinez, Francisco; Maxton, Caroline; Mefford, Heather C.; Merla, Giuseppe; Mierzewska, Hanna; Muir, Alison; Monfort, Sandra; Nicolai, Joost; Norman, Jennifer; O'Grady, Gina; Oleksy, Barbara; Orellana, Carmen; Orec, Laura Elena; Peinhardt, Charlotte; Pronicka, Ewa; Rosello, Monica; Santos-Simarro, Fernando; Schwaibold, Eva Maria Christina; Stegmann, Alexander P. A.; Stumpel, Constance T.; Szczepanik, Elzbieta; Terczynska, Iwona; Thevenon, Julien; Tzschach, Andreas; Van Bogaert, Patrick; Vittorini, Roberta; Walsh, Sonja; Weckhuysen, Sarah; Weissman, Barbara; Wolfe, Lynne; Reymond, Alexandre; De Nittis, Pasquelena; Poduri, Annapurna; Olson, Heather; Striano, Pasquale; Lesca, Gaetan; Scheffer, Ingrid E.; Moller, Rikke S.; Sadleir, Lynette G. Share Save Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital networkDenomme-Pichon, Anne-Sophie; Vitobello, Antonio; Olaso, Robert; Ziegler, Alban; Jeanne, Mederic; Mau-Them, Frederic Tran; Couturier, Victor; Racine, Caroline; Isidor, Bertrand; Poe, Charlotte; Jouan, Thibaud; Boland, Anne; Fin, Bertrand; Bacq-Daian, Delphine; Besse, Celine; Garde, Aurore; Prost, Adeline; Garret, Philippine; Tisserant, Emilie; Delanne, Julian; Nambot, Sophie; Juven, Aurelien; Gorce, Magali; Nizon, Mathilde; Vincent, Marie; Moutton, Sebastien; Fradin, Melanie; Lavillaureix, Alinoe; Rollier, Paul; Capri, Yline; Van-Gils, Julien; Busa, Tiffany; Sigaudy, Sabine; Pasquier, Laurent; Barth, Magalie; Bruel, Ange-Line; Flamant, Cyril; Prouteau, Clement; Bonneau, Dominique; Toutain, Annick; Chantegret, Corinne; Callier, Patrick; Philippe, Christophe; Duffourd, Yannis; Deleuze, Jean-Francois; Sorlin, Arthur; Faivre, Laurence; Thauvin-Robinet, Christel Share Save Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineationHeide, Solveig; Spentchian, Myrtille; Valence, Stephanie; Buratti, Julien; Mlt, Corinne Mach; Lejeune, Elodie; Olin, Valerie; Massimello, Marta; Lehalle, Daphne; Mouthon, Linda; Whalen, Sandra; Faudet, Anne; Mignot, Cyril; Garel, Catherine; Blondiaux, Eleonore; Lefebvre, Mathilde; Quenum-Miraillet, Genevieve; Chantot-Bastaraud, Sandra; Milh, Mathieu; Bretelle, Florence; des Portes, Vincent; Guibaud, Laurent; Putoux, Audrey; Tsatsaris, Vassili; Spodenkiewic, Marta; Layet, Valerie; Dard, Rodolphe; Mandelbrot, Laurent; Guet, Agnes; Moutton, Sebastien; Gorce, Magali; Nizon, Mathilde; Vincent, Marie; Beneteau, Claire; Rocchisanni, Marie-Amelie; Benachi, Alexandra; Saada, Julien; Attie-Bitach, Tania; Guilbaud, Lucie; Maurice, Paul; Friszer, Stephanie; Jouannic, Jean-Marie; de Villemeur, Thierry Billette; Moutard, Marie-Laure; Keren, Boris; Heron, Delphine Share Save Biallelic loss-of-function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowthHarms, Frederike L.; Parthasarathy, Padmini; Zorndt, Dennis; Alawi, Malik; Fuchs, Sigrid; Halliday, Benjamin J.; McKeown, Colina; Sampaio, Hugo; Radhakrishnan, Natasha; Radhakrishnan, Suresh K.; Gorce, Magali; Navet, Benjamin; Ziegler, Alban; Sachdev, Rani; Robertson, Stephen P.; Nampoothiri, Sheela; Kutsche, Kerstin Share Save 
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