Loss-of-Function Mutations in LRRC6, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms, Cause Primary Ciliary Dyskinesia by KOTT, Esther, DUQUESNOY, Philippe, RIVES, Nathalie, MITCHELL, Valérie, DE BLIC, Jacques, COSTE, André, CLEMENT, Annick, ESCALIER, Denise, TOURE, Aminata, ESCUDIER, Estelle, AMSELEM, Serge, COPIN, Bruno, LEGENDRE, Marie, DASTOT-LE MOAL, Florence, MONTANTIN, Guy, JEANSON, Ludovic, TAMALET, Aline, PAPON, Jean-François, SIFFROI, Jean-Pierre

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Loss-of-Function Mutations in RSPH1 Cause Primary Ciliary Dyskinesia with Central-Complex and Radial-Spoke Defects by Kott, Esther, Legendre, Marie, Copin, Bruno, Papon, Jean-François, Dastot-Le Moal, Florence, Montantin, Guy, Duquesnoy, Philippe, Piterboth, William, Amram, Daniel, Bassinet, Laurence, Beucher, Julie, Beydon, Nicole, Deneuville, Eric, Houdouin, Véronique, Journel, Hubert, Just, Jocelyne, Nathan, Nadia, Tamalet, Aline, Collot, Nathalie, Jeanson, Ludovic, Le Gouez, Morgane, Vallette, Benoit, Vojtek, Anne-Marie, Epaud, Ralph, Coste, André, Clement, Annick, Housset, Bruno, Louis, Bruno, Escudier, Estelle, Amselem, Serge

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Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy by Haack, Tobias B., Staufner, Christian, Köpke, Marlies G., Straub, Beate K., Kölker, Stefan, Thiel, Christian, Freisinger, Peter, Baric, Ivo, McKiernan, Patrick J., Dikow, Nicola, Harting, Inga, Beisse, Flemming, Burgard, Peter, Kotzaeridou, Urania, Kühr, Joachim, Himbert, Urban, Taylor, Robert W., Distelmaier, Felix, Vockley, Jerry, Ghaloul-Gonzalez, Lina, Zschocke, Johannes, Kremer, Laura S., Graf, Elisabeth, Schwarzmayr, Thomas, Bader, Daniel M., Gagneur, Julien, Wieland, Thomas, Terrile, Caterina, Strom, Tim M., Meitinger, Thomas, Hoffmann, Georg F., Prokisch, Holger

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RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes by Jeanson, Ludovic, Copin, Bruno, Papon, Jean-François, Dastot-Le Moal, Florence, Duquesnoy, Philippe, Montantin, Guy, Cadranel, Jacques, Corvol, Harriet, Coste, André, Désir, Julie, Souayah, Anissa, Kott, Esther, Collot, Nathalie, Tissier, Sylvie, Louis, Bruno, Tamalet, Aline, de Blic, Jacques, Clement, Annick, Escudier, Estelle, Amselem, Serge, Legendre, Marie

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Nuclear volume differences between balanced and unbalanced spermatozoa in chromosomal translocation carriers by Rouen, Alexandre, Lavillaureix, Alinoë, Hyon, Capucine, Heide, Solveig, Clède, Sylvain, Balet, Richard, Kott, Esther, Cassuto, Nino Guy, Siffroi, Jean-Pierre

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Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia by Legendre, M, Blanchon, S, Copin, B, Duquesnoy, P, Montantin, G, Kott, E, Dastot, F, Jeanson, L, Cachanado, M, Rousseau, A, Papon, JF, Tamalet, A, Vojtek, AM, Escalier, D, Coste, A, de Blic, J, Clément, A, Escudier, E, Amselem, S

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Lessons from applied large-scale pooling of 133,816 SARS-CoV-2 RT-PCR tests by Barak, Netta, Ben-Ami, Roni, Sido, Tal, Perri, Amir, Shtoyer, Aviad, Rivkin, Mila, Licht, Tamar, Peretz, Ayelet, Magenheim, Judith, Fogel, Irit, Livneh, Ayalah, Daitch, Yutti, Oiknine-Djian, Esther, Benedek, Gil, Dor, Yuval, Wolf, Dana G, Yassour, Moran

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Lost in transition: a case report of very late palliation of a double outlet right ventricle by Ahmed, Rizwan, Al Hashmi, Haitham, Mora, Bassem

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Effect of high-dose vitamin D3 on 28-day mortality in adult critically ill patients with severe vitamin D deficiency: a study protocol of a multicentre, placebo-controlled double-b... by Amrein, Karin, Parekh, Dhruv, Westphal, Sabine, Preiser, Jean-Charles, Berghold, Andrea, Riedl, Regina, Eller, Philipp, Schellongowski, Peter, Thickett, David, Meybohm, Patrick

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