A novel homozygous variant in SLC25A46 gene associated with pontocerebellar hypoplasia type 1E: a case report by Adrien Guillaume, Vojtech Stejskal, Guillaume Smits, Dorottya Kelen

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Early‐onset and severe pulmonary arterial hypertension due to a novel compound heterozygous association of rare VHL mutations: A case report and review of existing data by Laura Chomette, Isabelle Migeotte, Céline Dewachter, Jean‐Luc Vachiery, Guillaume Smits, Antoine Bondue

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Spontaneous resolution of nonimmune hydrops fetalis in a fetus with TP63 gene mutation and LZTR1 gene variants by Yannick Hurni, Martina Marangoni, Giulia Garofalo, Marie Cassart, Lisa Tomasi, Isabelle Vandernoot, Guillaume Smits, Caroline Gounongbé

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Toward reporting standards for the pathogenicity of variant combinations involved in multilocus/oligogenic diseases by Sofia Papadimitriou, Barbara Gravel, Charlotte Nachtegael, Elfride De Baere, Bart Loeys, Miikka Vikkula, Guillaume Smits, Tom Lenaerts

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Acquired Zinc Deficiency Mimicking Acrodermatitis Enteropathica in a Breast-Fed Premature Infant by Giovanna D’Amico, Corinne De Laet, Guillaume Smits, Deborah Salik, Guillaume Deprez, Catheline Vilain, Pascale Perlot, Alfredo Vicinanza

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P229: Non-coding variants create an enhancer cluster that causes resistance to thyrotropin via long-range interactions with a microRNA promoter by Elliott Swanson, Helmut Grasberger, Alexandra Dumitrescu, Xiao-Hui Liao, Roy Weiss, Panudda Srichomkwun, Theodora Pappa, Junfeng Cheng, Takashi Yoshimura, Phillip Hoffmann, Monica Malheiros França, Rebecca Tagett, Kazumichi Onigata, Sabine Costagliola, Jane Ranchalis, Shane Neph, Mitchell Vollger, Jessica Chong, Michael Bamshad, Guillaume Smits, Gilbert Vassart, Samuel Refetoff, Andrew Stergachis

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Distinct antibody repertoires against endemic human coronaviruses in children and adults by Taushif Khan, Mahbuba Rahman, Fatima Al Ali, Susie S. Y. Huang, Manar Ata, Qian Zhang, Paul Bastard, Zhiyong Liu, Emmanuelle Jouanguy, Vivien Béziat, Aurélie Cobat, Gheyath K. Nasrallah, Hadi M. Yassine, Maria K. Smatti, Amira Saeed, Isabelle Vandernoot, Jean-Christophe Goffard, Guillaume Smits, Isabelle Migeotte, Filomeen Haerynck, Isabelle Meyts, Laurent Abel, Jean-Laurent Casanova, Mohammad R. Hasan, Nico Marr

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An exome-wide study of renal operational tolerance by Annick Massart, Annick Massart, Annick Massart, Richard Danger, Catharina Olsen, Catharina Olsen, Catharina Olsen, Mary J. Emond, Ondrej Viklicky, Valérie Jacquemin, Valérie Jacquemin, Julie Soblet, Julie Soblet, Julie Soblet, Sarah Duerinckx, Sarah Duerinckx, Didier Croes, Didier Croes, Didier Croes, Didier Croes, Camille Perazzolo, Petra Hruba, Dorien Daneels, Dorien Daneels, Dorien Daneels, Ben Caljon, Ben Caljon, Mehmet Sukru Sever, Julio Pascual, Julio Pascual, Marius Miglinas, the Renal Tolerance Investigators, Isabelle Pirson, Lidia Ghisdal, Guillaume Smits, Guillaume Smits, Magali Giral, Magali Giral, Magali Giral, Daniel Abramowicz, Marc Abramowicz, Marc Abramowicz, Marc Abramowicz, Sophie Brouard, Sophie Brouard, Sophie Brouard, Maria Aguilar Rodríguez, Friederike Bachmann, Rajendra Bahadur Shahi, Frederike Bemelman, Luboslav Bena, Luigi Biancone, Laura Braun, Klemens Budde, Alejandro Camargo-Salamanca, Katia Clemente, Hulya Colak, Adrian Covic, Jacques Degreve, Philippe Gatault, François Glowacki, Karine Hadaya, Marc Hazzan, Bénédicte Janbon, Christophe Legendre, Umberto Maggiore, Marius Miglinas, Anja Mühlfeld, Maarten Naesens, Christian Noël, Rainer Oberbauer, Evangeline Pillebout, Gian Benedetto Piredda, Francesco Pisani, Ana Ramírez Puga, Tomas Reischig, Francisco González-Roncero, Søren Schwartz Sørensen, Daniel Seron Micas, Nurhan Seyahi, Dimitrie Siriopol, Goce Spasovski, Jean-François Subra, Erik Teugels, Serhan Tuǧlular, Sonia Van Dooren, Catheline Vilain, Florence Villemain, Xavier Warling, Bruno Watschinger, Laurent Weekers

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