Enhanced vehicle cleaning von Denomme, Daniel, Yako, Sarra Awad, Hooson, Samuel, Nuesch, Sandro

Volltext bestellen

Enhanced vehicle cleaning von Sarra Awad Yako, Samuel Hooson, Sandro Patrick Nuesch, Daniel Denomme

Volltext bestellen

ENHANCED VEHICLE CLEANING von Yako Sarra Awad, Nuesch Sandro, Denomme Daniel, Hooson Samuel

Volltext bestellen

ENHANCED VEHICLE CLEANING von YAKO, Sarra Awad, Daniel DENOMME, Samuel HOOSON, Sandro NUESCH

Volltext bestellen

Enhanced vehicle cleaning von SARRA AWAD YAKO, SANDRO PATRICK NUESCH, SAMUEL HOOSON, DANIEL DENOMME

Volltext bestellen

Verbesserte Fahrzeugreinigung von Nuesch, Sandro Patrick, Denomme, Daniel, Yako, Sarra Awad, Hooson, Samuel

Volltext bestellen

Serologic Characterization of Antibodies in Patients Experiencing Piperacillin-Induced Immune Thrombocytopenia von Rasmussen, Mark, Bougie, Daniel W., Denomme, Gregory H., Aster, Richard H.

Volltext

Development and internal validation of a multivariable risk prediction model for severe rebound pain after foot and ankle surgery involving single-shot popliteal sciatic nerve bloc... von Jen, Tim T.H., Ke, Janny X.C., Wing, Kevin J., Denomme, Justine, McIsaac, Daniel I., Huang, Shih-Chieh, Ree, Ronald M., Prabhakar, Christopher, Schwarz, Stephan K.W., Yarnold, Cynthia H.

Volltext

Understanding the new BRD4‐related syndrome: Clinical and genomic delineation with an international cohort study von Jouret, Guillaume, Heide, Solveig, Sorlin, Arthur, Faivre, Laurence, Chantot‐Bastaraud, Sandra, Beneteau, Claire, Denis‐Musquer, Marie, Turnpenny, Peter D., Coutton, Charles, Vieville, Gaëlle, Thevenon, Julien, Larson, Austin, Petit, Florence, Boudry, Elise, Smol, Thomas, Delobel, Bruno, Duban‐Bedu, Bénédicte, Fallerini, Chiara, Mari, Francesca, Lo Rizzo, Caterina, Renieri, Alessandra, Caberg, Jean‐Hubert, Denommé‐Pichon, Anne‐Sophie, Tran Mau‐Them, Frédéric, Maystadt, Isabelle, Courtin, Thomas, Keren, Boris, Mouthon, Linda, Charles, Perrine, Cuinat, Silvestre, Isidor, Bertrand, Theis, Philippe, Müller, Christian, Kulisic, Marizela, Türkmen, Seval, Stieber, Daniel, Bourgeois, Dominique, Scalais, Emmanuel, Klink, Barbara

Volltext

Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features von Zhang, Jing, Gambin, Tomasz, Yuan, Bo, Szafranski, Przemyslaw, Rosenfeld, Jill A., Balwi, Mohammed Al, Alswaid, Abdulrahman, Al-Gazali, Lihadh, Shamsi, Aisha M. Al, Komara, Makanko, Ali, Bassam R., Roeder, Elizabeth, McAuley, Laura, Roy, Daniel S., Manchester, David K., Magoulas, Pilar, King, Lauren E., Hannig, Vickie, Bonneau, Dominique, Denommé-Pichon, Anne-Sophie, Charif, Majida, Besnard, Thomas, Bézieau, Stéphane, Cogné, Benjamin, Andrieux, Joris, Zhu, Wenmiao, He, Weimin, Vetrini, Francesco, Ward, Patricia A., Cheung, Sau Wai, Bi, Weimin, Eng, Christine M., Lupski, James R., Yang, Yaping, Patel, Ankita, Lalani, Seema R., Xia, Fan, Stankiewicz, Paweł

Volltext

Rh discrepancies caused by variable reactivity of partial and weak D types with different serologic techniques von Denomme, Gregory A., Dake, Louann R., Vilensky, Daniel, Ramyar, Lily, Judd, W. John

Volltext

Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant von de Boer, Elke, Yaldiz, Burcu, Denommé-Pichon, Anne-Sophie, Matalonga, Leslie, Laurie, Steve, Steyaert, Wouter, de Reuver, Rick, Gilissen, Christian, Kwint, Michael, Pfundt, Rolph, Verloes, Alain, Willemsen, Michèl A.A.P., Vries, Bert B.A. de, Vitobello, A., Kleefstra, Tjitske, Vissers, Lisenka E.L.M., Boer, Elke de, Cohen, Enzo, Cuesta, Isabel, Danis, Daniel, Denommé-Pichon, Anne-Sophie, Gao, Fei, Gilissen, Christian, Horvath, Rita, Johari, Mridul, Johanson, Lennart, Li, Shuang, Matalonga, Leslie, Morsy, Heba, Nelson, Isabelle, Paramonov, Ida, Paske, Iris B.A.W. te, Robinson, Peter, Savarese, Marco, Steyaert, Wouter, Töpf, Ana, Trimouille, Aurélien, van der Velde, Joeri K., Vandrovcova, Jana, Vitobello, Antonio, Zurek, Birte, Abbot, Kristin M., Banka, Siddharth, Benetti, Elisa, de Boer, Elke, Casari, Giorgio, Ciolfi, Andrea, Clayton-Smith, Jill, Dallapiccola, Bruno, Ellwanger, Kornelia, Faivre, Laurence, Graessner, Holm, Haack, Tobias B., Hammarsjö, Anna, Havlovicova, Marketa, Hoischen, Alexander, Hugon, Anne, Jackson, Adam, Kerstjens, Mieke, Kleefstra, Tjitske, Lindstrand, Anna, Martín, Estrella López, Macek, Milan, Maystadt, Isabelle, Morleo, Manuela, Nigro, Vicenzo, Nordgren, Ann, Pettersson, Maria, Pinelli, Michele, Pizzi, Simone, Posada, Manuel, Radio, Francesca C., Renieri, Alessandra, Rooryck, Caroline, Ryba, Lukas, Santen, Gijs W.E., Schwarz, Martin, Tartaglia, Marco, Thauvin, Christel, Torella, Annalaura, Verloes, Alain, Vissers, Lisenka, Votypka, Pavel, Vyshka, Klea, Zguro, Kristina

Volltext

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases von Zurek, Birte, Ellwanger, Kornelia, Vissers, Lisenka E L M, Schüle, Rebecca, Synofzik, Matthis, Töpf, Ana, de Voer, Richarda M, Laurie, Steven, Matalonga, Leslie, Gilissen, Christian, Ossowski, Stephan, 't Hoen, Peter A C, Vitobello, Antonio, Schulze-Hentrich, Julia M, Riess, Olaf, Brunner, Han G, Brookes, Anthony J, Rath, Ana, Bonne, Gisèle, Gumus, Gulcin, Verloes, Alain, Hoogerbrugge, Nicoline, Evangelista, Teresinha, Harmuth, Tina, Swertz, Morris, Spalding, Dylan, Hoischen, Alexander, Beltran, Sergi, Graessner, Holm

Volltext

Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1) von Töpf, Ana, Pyle, Angela, Griffin, Helen, Matalonga, Leslie, Schon, Katherine, Sickmann, Albert, Schara-Schmidt, Ulrike, Hentschel, Andreas, Chinnery, Patrick F, Kölbel, Heike, Roos, Andreas, Horvath, Rita

Volltext

Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy von Colin, Estelle, Daniel, Jens, Ziegler, Alban, Wakim, Jamal, Scrivo, Aurora, Haack, Tobias B., Khiati, Salim, Denommé, Anne-Sophie, Amati-Bonneau, Patrizia, Charif, Majida, Procaccio, Vincent, Reynier, Pascal, Aleck, Kyrieckos A., Botto, Lorenzo D., Herper, Claudia Lena, Kaiser, Charlotte Sophia, Nabbout, Rima, N’Guyen, Sylvie, Mora-Lorca, José Antonio, Assmann, Birgit, Christ, Stine, Meitinger, Thomas, Strom, Tim M., Prokisch, Holger, Génin, Emmanuelle, Campion, Dominique, Dartigues, Jean-François, Deleuze, Jean-François, Lambert, Jean-Charles, Redon, Richard, Ludwig, Thomas, Grenier-Boley, Benjamin, Letort, Sébastien, Lindenbaum, Pierre, Meyer, Vincent, Quenez, Olivier, Dina, Christian, Bellenguez, Céline, -Le Clézio, Camille Charbonnier, Giemza, Joanna, Chatel, Stéphanie, Férec, Claude, Le Marec, Hervé, Letenneur, Luc, Nicolas, Gaël, Rouault, Karen, Bacq, Delphine, Boland, Anne, Lechner, Doris, Miranda-Vizuete, Antonio, Hoffmann, Georg F., Lenaers, Guy, Bomont, Pascale, Liebau, Eva, Bonneau, Dominique

Volltext

Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study von Paulet, Alix, Bennett-Ness, Cavan, Ageorges, Faustine, Trost, Detlef, Green, Andrew, Goudie, David, Jewell, Rosalyn, Kraatari-Tiri, Minna, Piard, Juliette, Coubes, Christine, Lam, Wayne, Lynch, Sally Ann, Groeschel, Samuel, Ramond, Francis, Fluss, Joël, Fagerberg, Christina, Brasch Andersen, Charlotte, Varvagiannis, Konstantinos, Kleefstra, Tjitske, Gérard, Bénédicte, Fradin, Mélanie, Vitobello, Antonio, Tenconi, Romano, Denommé-Pichon, Anne-Sophie, Vincent-Devulder, Aline, Haack, Tobias, Marsh, Joseph A, Laulund, Lone Walentin, Grimmel, Mona, Riess, Angelika, de Boer, Elke, Padilla-Lopez, Sergio, Bakhtiari, Somayeh, Ostendorf, Adam, Zweier, Christiane, Smol, Thomas, Willems, Marjolaine, Faivre, Laurence, Scala, Marcello, Striano, Pasquale, Bagnasco, Irene, Koboldt, Daniel, Iascone, Maria, Suerink, Manon, Kruer, Michael C, Levy, Jonathan, Verloes, Alain, Abbott, Catherine M, Ruaud, Lyse

Volltext

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data von Matalonga, Leslie, Hernández-Ferrer, Carles, Piscia, Davide, Schüle, Rebecca, Synofzik, Matthis, Töpf, Ana, Vissers, Lisenka E L M, de Voer, Richarda, Tonda, Raul, Laurie, Steven, Fernandez-Callejo, Marcos, Picó, Daniel, Garcia-Linares, Carles, Papakonstantinou, Anastasios, Corvó, Alberto, Joshi, Ricky, Diez, Hector, Gut, Ivo, Hoischen, Alexander, Graessner, Holm, Beltran, Sergi

Volltext

A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis von de Boer, Elke, Ockeloen, Charlotte W, Matalonga, Leslie, Horvath, Rita, Rodenburg, Richard J, Coenen, Marieke J H, Janssen, Mirian, Henssen, Dylan, Gilissen, Christian, Steyaert, Wouter, Paramonov, Ida, Trimouille, Aurélien, Kleefstra, Tjitske, Verloes, Alain, Vissers, Lisenka E L M

Volltext

Solving unsolved rare neurological diseases-a Solve-RD viewpoint von Schüle, Rebecca, Timmann, Dagmar, Erasmus, Corrie E, Reichbauer, Jennifer, Wayand, Melanie, van de Warrenburg, Bart, Schöls, Ludger, Wilke, Carlo, Bevot, Andrea, Zuchner, Stephan, Beltran, Sergi, Laurie, Steven, Matalonga, Leslie, Graessner, Holm, Synofzik, Matthis

Volltext

Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy von Lahrouchi, Najim, Postma, Alex V, Salazar, Christian M, De Laughter, Daniel M, Tjong, Fleur, Piherová, Lenka, Bowling, Forrest Z, Zimmerman, Dominic, Lodder, Elisabeth M, Ta-Shma, Asaf, Perles, Zeev, Beekman, Leander, Ilgun, Aho, Gunst, Quinn, Hababa, Mariam, Škorić-Milosavljević, Doris, Stránecký, Viktor, Tomek, Viktor, de Knijff, Peter, de Leeuw, Rick, Robinson, Jamille Y, Burn, Sabrina C, Mustafa, Hiba, Ambrose, Matthew, Moss, Timothy, Jacober, Jennifer, Niyazov, Dmitriy M, Wolf, Barry, Kim, Katherine H, Cherny, Sara, Rousounides, Andreas, Aristidou-Kallika, Aphrodite, Tanteles, George, Ange-Line, Bruel, Denommé-Pichon, Anne-Sophie, Francannet, Christine, Ortiz, Damara, Haak, Monique C, Ten Harkel, Arend D.J., Manten, Gwendolyn Tr, Dutman, Annemiek C, Bouman, Katelijne, Magliozzi, Monia, Radio, Francesca Clementina, Santen, Gijs We, Herkert, Johanna C, Brown, H Alex, Elpeleg, Orly, van den Hoff, Maurice Jb, Mulder, Barbara, Airola, Michael V, Kmoch, Stanislav, Barnett, Joey V, Clur, Sally-Ann, Frohman, Michael A, Bezzina, Connie R

Volltext