Resultados da busca - Joset, Pascal

Rostral growth of commissural axons requires the cell adhesion molecule MDGA2 por Joset, Pascal, Wacker, Andrin, Babey, Régis, Ingold, Esther A, Andermatt, Irwin, Stoeckli, Esther T, Gesemann, Matthias

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Severe reaction to radiotherapy provoked by hypomorphic germline mutations in ATM (ataxia–telangiectasia mutated gene) por Asadollahi, Reza, Britschgi, Christian, Joset, Pascal, Oneda, Beatrice, Schindler, Detlev, Meier, Urs R., Rauch, Anita

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The HHID syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in ARID1B por Zweier, Markus, Peippo, Maarit M., Pöyhönen, Minna, Kääriäinen, Helena, Begemann, Anaïs, Joset, Pascal, Oneda, Beatrice, Rauch, Anita

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Confirmation of Ogden syndrome as an X‐linked recessive fatal disorder due to a recurrent NAA10 variant and review of the literature por Gogoll, Laura, Steindl, Katharina, Joset, Pascal, Zweier, Markus, Baumer, Alessandra, Gerth‐Kahlert, Christina, Tutschek, Boris, Rauch, Anita

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Bi-allelic loss of function variants in SLC30A5 as cause of perinatal lethal cardiomyopathy por Lieberwirth, Johann Kaspar, Joset, Pascal, Heinze, Anja, Hentschel, Julia, Stein, Anja, Iannaccone, Antonella, Steindl, Katharina, Kuechler, Alma, Abou Jamra, Rami

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Correction: Bi-allelic loss of function variants in SLC30A5 as cause of perinatal lethal cardiomyopathy por Lieberwirth, Johann Kaspar, Joset, Pascal, Heinze, Anja, Hentschel, Julia, Stein, Anja, Iannaccone, Antonella, Steindl, Katharina, Kuechler, Alma, Jamra, Rami Abou

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Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency por Abela, Lucia, Spiegel, Ronen, Crowther, Lisa M., Klein, Andrea, Steindl, Katharina, Papuc, Sorina Mihaela, Joset, Pascal, Zehavi, Yoav, Rauch, Anita, Plecko, Barbara, Simmons, Thomas Luke

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Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability por Asadollahi, Reza, Oneda, Beatrice, Sheth, Frenny, Azzarello-Burri, Silvia, Baldinger, Rosa, Joset, Pascal, Latal, Beatrice, Knirsch, Walter, Desai, Soaham, Baumer, Alessandra, Houge, Gunnar, Andrieux, Joris, Rauch, Anita

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Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities por Schneeberger, Pauline E., von Elsner, Leonie, Barker, Emma L., Meinecke, Peter, Marquardt, Iris, Alawi, Malik, Steindl, Katharina, Joset, Pascal, Rauch, Anita, Zwijnenburg, Petra J.G., Weiss, Marjan M., Merry, Catherine L.R., Kutsche, Kerstin

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Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders por Boonsawat, Paranchai, Horn, Anselm H. C., Steindl, Katharina, Baumer, Alessandra, Joset, Pascal, Kraemer, Dennis, Bahr, Angela, Ivanovski, Ivan, Cabello, Elena M., Papik, Michael, Zweier, Markus, Oneda, Beatrice, Sirleto, Pietro, Burkhardt, Tilo, Sticht, Heinrich, Rauch, Anita

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Genetic Analysis in a Swiss Cohort of Bilateral Congenital Cataract por Rechsteiner, Delia, Issler, Lydia, Koller, Samuel, Lang, Elena, Bähr, Luzy, Feil, Silke, Rüegger, Christoph M., Kottke, Raimund, Toelle, Sandra P., Zweifel, Noëmi, Steindl, Katharina, Joset, Pascal, Zweier, Markus, Suter, Aude-Annick, Gogoll, Laura, Haas, Cordula, Berger, Wolfgang, Gerth-Kahlert, Christina

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Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder por Hiatt, Susan M., Thompson, Michelle L., Prokop, Jeremy W., Lawlor, James M.J., Gray, David E., Bebin, E. Martina, Rinne, Tuula, Kempers, Marlies, Pfundt, Rolph, van Bon, Bregje W., Mignot, Cyril, Nava, Caroline, Depienne, Christel, Kalsner, Louisa, Rauch, Anita, Joset, Pascal, Bachmann-Gagescu, Ruxandra, Wentzensen, Ingrid M., McWalter, Kirsty, Cooper, Gregory M.

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The clinical significance of small copy number variants in neurodevelopmental disorders por Asadollahi, Reza, Oneda, Beatrice, Joset, Pascal, Azzarello-Burri, Silvia, Bartholdi, Deborah, Steindl, Katharina, Vincent, Marie, Cobilanschi, Joana, Sticht, Heinrich, Baldinger, Rosa, Reissmann, Regina, Sudholt, Irene, Thiel, Christian T, Ekici, Arif B, Reis, André, Bijlsma, Emilia K, Andrieux, Joris, Dieux, Anne, FitzPatrick, David, Ritter, Susanne, Baumer, Alessandra, Latal, Beatrice, Plecko, Barbara, Jenni, Oskar G, Rauch, Anita

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Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling por Asadollahi, Reza, Strauss, Justin E, Zenker, Martin, Beuing, Oliver, Edvardson, Simon, Elpeleg, Orly, Strom, Tim M, Joset, Pascal, Niedrist, Dunja, Otte, Christine, Oneda, Beatrice, Boonsawat, Paranchai, Azzarello-Burri, Silvia, Bartholdi, Deborah, Papik, Michael, Zweier, Markus, Haas, Cordula, Ekici, Arif B, Baumer, Alessandra, Boltshauser, Eugen, Steindl, Katharina, Nothnagel, Michael, Schinzel, Albert, Stoeckli, Esther T, Rauch, Anita

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The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study por Papuc, Sorina M., Abela, Lucia, Steindl, Katharina, Begemann, Anaïs, Simmons, Thomas L., Schmitt, Bernhard, Zweier, Markus, Oneda, Beatrice, Socher, Eileen, Crowther, Lisa M., Wohlrab, Gabriele, Gogoll, Laura, Poms, Martin, Seiler, Michelle, Papik, Michael, Baldinger, Rosa, Baumer, Alessandra, Asadollahi, Reza, Kroell-Seger, Judith, Schmid, Regula, Iff, Tobias, Schmitt-Mechelke, Thomas, Otten, Karoline, Hackenberg, Annette, Addor, Marie-Claude, Klein, Andrea, Azzarello-Burri, Silvia, Sticht, Heinrich, Joset, Pascal, Plecko, Barbara, Rauch, Anita

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Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly por Boonsawat, Paranchai, Joset, Pascal, Steindl, Katharina, Oneda, Beatrice, Gogoll, Laura, Azzarello-Burri, Silvia, Sheth, Frenny, Datar, Chaitanya, Verma, Ishwar C., Puri, Ratna Dua, Zollino, Marcella, Bachmann-Gagescu, Ruxandra, Niedrist, Dunja, Papik, Michael, Figueiro-Silva, Joana, Masood, Rahim, Zweier, Markus, Kraemer, Dennis, Lincoln, Sharyn, Rodan, Lance, Passemard, Sandrine, Drunat, Séverine, Verloes, Alain, Horn, Anselm H. C., Sticht, Heinrich, Steinfeld, Robert, Plecko, Barbara, Latal, Beatrice, Jenni, Oskar, Asadollahi, Reza, Rauch, Anita

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Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype por Zanoni, Paolo, Steindl, Katharina, Sengupta, Deepanwita, Joset, Pascal, Bahr, Angela, Sticht, Heinrich, Lang-Muritano, Mariarosaria, van Ravenswaaij-Arts, Conny M. A., Shinawi, Marwan, Andrews, Marisa, Attie-Bitach, Tania, Maystadt, Isabelle, Belnap, Newell, Benoit, Valerie, Delplancq, Geoffroy, de Vries, Bert B. A., Grotto, Sarah, Lacombe, Didier, Larson, Austin, Mourmans, Jeroen, Õunap, Katrin, Petrilli, Giulia, Pfundt, Rolph, Ramsey, Keri, Blok, Lot Snijders, Tsatsaris, Vassilis, Vitobello, Antonio, Faivre, Laurence, Wheeler, Patricia G., Wevers, Marijke R., Wojcik, Monica, Zweier, Markus, Gozani, Or, Rauch, Anita

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De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Callosum, Axon, Cardiac, Ocular, and Genital Defects por Accogli, Andrea, Calabretta, Sara, St-Onge, Judith, Boudrahem-Addour, Nassima, Dionne-Laporte, Alexandre, Joset, Pascal, Azzarello-Burri, Silvia, Rauch, Anita, Krier, Joel, Fieg, Elizabeth, Pallais, Juan C., McConkie-Rosell, Allyn, McDonald, Marie, Freedman, Sharon F., Rivière, Jean-Baptiste, Lafond-Lapalme, Joël, Simpson, Brittany N., Hopkin, Robert J., Trimouille, Aurélien, Van-Gils, Julien, Begtrup, Amber, McWalter, Kirsty, Delphine, Heron, Keren, Boris, Genevieve, David, Argilli, Emanuela, Sherr, Elliott H., Severino, Mariasavina, Rouleau, Guy A., Yam, Patricia T., Charron, Frédéric, Srour, Myriam

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Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions por Tan, Tiong Yang, Gonzaga-Jauregui, Claudia, Bhoj, Elizabeth J., Strauss, Kevin A., Brigatti, Karlla, Puffenberger, Erik, Li, Dong, Xie, LiQin, Das, Nanditha, Skubas, Ioanna, Deckelbaum, Ron A., Hughes, Virginia, Brydges, Susannah, Hatsell, Sarah, Siao, Chia-Jen, Dominguez, Melissa G., Economides, Aris, Overton, John D., Mayne, Valerie, Simm, Peter J., Jones, Bryn O., Eggers, Stefanie, Le Guyader, Gwenaël, Pelluard, Fanny, Haack, Tobias B., Sturm, Marc, Riess, Angelika, Waldmueller, Stephan, Hofbeck, Michael, Steindl, Katharina, Joset, Pascal, Rauch, Anita, Hakonarson, Hakon, Baker, Naomi L., Farlie, Peter G.

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Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism por Stephen, Joshi, Maddirevula, Sateesh, Nampoothiri, Sheela, Burke, John D., Herzog, Matthew, Shukla, Anju, Steindl, Katharina, Eskin, Ascia, Patil, Siddaramappa J., Joset, Pascal, Lee, Hane, Garrett, Lisa. J., Yokoyama, Tadafumi, Balanda, Nicholas, Bodine, Steven P., Tolman, Nathanial J., Zerfas, Patricia M., Zheng, Allison, Ramantani, Georgia, Girisha, Katta M., Rivas, Cecilia, Suresh, Pujar V., Elkahloun, Abdel, Alsaif, Hessa S., Wakil, Salma M., Mahmoud, Laila, Ali, Rehab, Prochazkova, Michaela, Kulkarni, Ashok B., Ben-Omran, Tawfeg, Colak, Dilek, Morris, H. Douglas, Rauch, Anita, Martinez-Agosto, Julian A., Nelson, Stanley F., Alkuraya, Fowzan S., Gahl, William A., Malicdan, May Christine V.

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