Результаты поиска - Steindl, Katharina

Sotos syndrome and the added value of genetic workup in epilepsy surgery по Bättig, Linda, Rosch, Richard Ewald, Steindl, Katharina, Bürki, Sarah Elisabeth, Ramantani, Georgia

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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 по 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 по 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 по Lieberwirth, Johann Kaspar, Joset, Pascal, Heinze, Anja, Hentschel, Julia, Stein, Anja, Iannaccone, Antonella, Steindl, Katharina, Kuechler, Alma, Jamra, Rami Abou

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Whole Exome Sequencing in Coloboma/Microphthalmia: Identification of Novel and Recurrent Variants in Seven Genes по Haug, Patricia, Koller, Samuel, Maggi, Jordi, Lang, Elena, Feil, Silke, Wlodarczyk, Agnès, Bähr, Luzy, Steindl, Katharina, Rohrbach, Marianne, Gerth-Kahlert, Christina, Berger, Wolfgang

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Exome Sequencing in a Swiss Childhood Glaucoma Cohort Reveals CYP1B1 and FOXC1 Variants as Most Frequent Causes по Lang, Elena, Koller, Samuel, Bähr, Luzy, Töteberg-Harms, Marc, Atac, David, Roulez, Françoise, Bahr, Angela, Steindl, Katharina, Feil, Silke, Berger, Wolfgang, Gerth-Kahlert, Christina

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Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency по 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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Expanding the phenotype: Four new cases and hope for treatment in Bachmann‐Bupp syndrome по VanSickle, Elizabeth A., Michael, Julianne, Bachmann, André S., Rajasekaran, Surender, Prokop, Jeremy W., Kuzniecky, Ruben, Hofstede, Floris C., Steindl, Katharina, Rauch, Anita, Lipson, Mark H., Bupp, Caleb P.

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Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities по 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 по 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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Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes по Begemann, Anaïs, Acuña, Mario A., Zweier, Markus, Vincent, Marie, Steindl, Katharina, Bachmann-Gagescu, Ruxandra, Hackenberg, Annette, Abela, Lucia, Plecko, Barbara, Kroell-Seger, Judith, Baumer, Alessandra, Yamakawa, Kazuhiro, Inoue, Yushi, Asadollahi, Reza, Sticht, Heinrich, Zeilhofer, Hanns Ulrich, Rauch, Anita

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Genetic Analysis in a Swiss Cohort of Bilateral Congenital Cataract по 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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The clinical significance of small copy number variants in neurodevelopmental disorders по 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 по 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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Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development по Nahorski, Michael S, Maddirevula, Sateesh, Ishimura, Ryosuke, Alsahli, Saud, Brady, Angela F, Begemann, Anaïs, Mizushima, Tsunehiro, Guzmán-Vega, Francisco J, Obata, Miki, Ichimura, Yoshinobu, Alsaif, Hessa S, Anazi, Shams, Ibrahim, Niema, Abdulwahab, Firdous, Hashem, Mais, Monies, Dorota, Abouelhoda, Mohamed, Meyer, Brian F, Alfadhel, Majid, Eyaid, Wafa, Zweier, Markus, Steindl, Katharina, Rauch, Anita, Arold, Stefan T, Woods, C Geoffrey, Komatsu, Masaaki, Alkuraya, Fowzan S

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ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons по May, Melanie, Hwang, Kyu-Seok, Miles, Judith, Williams, Charlie, Niranjan, Tejasvi, Kahler, Stephen G., Chiurazzi, Pietro, Steindl, Katharina, Van Der Spek, Peter J., Swagemakers, Sigrid, Mueller, Jennifer, Stefl, Shannon, Alexov, Emil, Ryu, Jeong-Im, Choi, Jung-Hwa, Kim, Hyun-Taek, Tarpey, Patrick, Neri, Giovanni, Holloway, Lynda, Skinner, Cindy, Stevenson, Roger E., Dorsky, Richard I., Wang, Tao, Schwartz, Charles E., Kim, Cheol-Hee

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The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study по 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 по 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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SUN-219 Human Congenital Arhinia Is Associated with GnRH Deficiency and Primary Testicular Defects по Delaney, Angela, Volochayev, Rita, Meader, Brooke, Lee, Janice, Almpani, Nadine, Noukelak, Germaine, Brooks, Brian, Henkind, Jennifer, Chalmers, Laura, Law, Jennifer, Williamson, Kathleen, Jacobsen, Christina, Buitrago, Tatiana Pineda, Silva, Orlando Perez, Chie-Hee, Cho, Kaindl, Angela, Anita, Rauch, steindl, Katharina, Garcia-Ortiz, Jose, Bart, Loeys, Russell, Bianca, Prasad, Rameshwar, Mondal, Uttam, Reigstad, Hallvard Martin, Clements, Scott, Salnikov, Kathryn, DiOrio, Nicole, Balasubramanian, Ravikumar, Dwyer, Andrew, Seminara, Stephanie, Crowley, William, Plummer, Lacey, Hall, Janet, Graham, John, Lin, Angela, Shaw, Natalie

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Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype по 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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