Molecular diagnosis of neonatal diabetes mellitus using next-generation sequencing of the whole exome. by Amélie Bonnefond, Emmanuelle Durand, Olivier Sand, Franck De Graeve, Sophie Gallina, Kanetee Busiah, Stéphane Lobbens, Albane Simon, Christine Bellanné-Chantelot, Louis Létourneau, Raphael Scharfmann, Jérôme Delplanque, Robert Sladek, Michel Polak, Martine Vaxillaire, Philippe Froguel

Get full text

Extended clinical phenotypes and treatment modalities in 32 JAGN1-deficient patients: a multicenter study by ESID and EBMT IEWP by Julia Fekadu-Siebald, Emilia Salzmann-Manrique, Jan Robert Heusel, Andre Willasch, Fabian Hauck, Luis Ignacio Gonzalez-Granado, Zahra Chavoshzadeh, Samin Sharafian, Franziska Cuntz, Safa Baris, Andrea Finocchi, Mattia Algeri, Roya Sherkat, Maja Klaudel-Dreszler, Cornelia Zeidler, Christine Bellanné-Chantelot, Gerhard Kindle, Blandine Beaupain, Catherine Paillard, Markus Seidel, Peter Bader, Michael H. Albert, Bénédicte Neven, Jean Donadieu, Shahrzad Bakhtiar

Get full text

Expanding the phenotypic and genetic landscape of congenital neutropenia through whole‐exome and genome sequencing by Séverine Marti, Philippe Pellet, Blandine Beaupain, Léa Durix, Julien Buratti, Yves Réguerre, Nathalie Aladjidi, Saba Azarnoush, Severine Clauin, Wahid Abou Chahla, Gilles Blaison, Jeremy Bertand, Damien Bodet, Benoit Brethon, Jessica Chane‐Teng, Manon Delafoy, Chrystelle Dupraz, Virginie Gandemer, Philippe Denizeau, Alice Goldenberg, Pierre Hirsch, Anaïs l'Haridon, Aude Marie‐Cardine, Gabriella Vera, Brigitte Nelken, Laure Nizery, Marie Nolla, Marlène Pasquet, Jérémie Rosain, Louis Terriou, Isabelle Plo, Jean Donadieu, Christine Bellanné‐Chantelot

Get full text