Výsledky vyhledávání - Bahr, Angela
- Zobrazuji výsledky 1 - 7 z 7
-
1
-
2
-
3
Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies Autor Tiwari, Amit, Bahr, Angela, Bähr, Luzy, Fleischhauer, Johannes, Zinkernagel, Martin S., Winkler, Niklas, Barthelmes, Daniel, Berger, Lieselotte, Gerth-Kahlert, Christina, Neidhardt, John, Berger, Wolfgang
Vydáno 2016Text -
4
Exome Sequencing in a Swiss Childhood Glaucoma Cohort Reveals CYP1B1 and FOXC1 Variants as Most Frequent Causes Autor Lang, Elena, Koller, Samuel, Bähr, Luzy, Töteberg-Harms, Marc, Atac, David, Roulez, Françoise, Bahr, Angela, Steindl, Katharina, Feil, Silke, Berger, Wolfgang, Gerth-Kahlert, Christina
Vydáno 2020Text -
5
Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders Autor 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
Vydáno 2022Text -
6
Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans Autor Collier, Jack J., Guissart, Claire, Oláhová, Monika, Sasorith, Souphatta, Piron-Prunier, Florence, Suomi, Fumi, Zhang, David, Martinez-Lopez, Nuria, Leboucq, Nicolas, Bahr, Angela, Azzarello-Burri, Silvia, Reich, Selina, Schöls, Ludger, Polvikoski, Tuomo M., Meyer, Pierre, Larrieu, Lise, Schaefer, Andrew M., Alsaif, Hessa S., Alyamani, Suad, Zuchner, Stephan, Barbosa, Inês A., Deshpande, Charu, Pyle, Angela, Rauch, Anita, Synofzik, Matthis, Alkuraya, Fowzan S., Rivier, François, Ryten, Mina, McFarland, Robert, Delahodde, Agnès, McWilliams, Thomas G., Koenig, Michel, Taylor, Robert W.
Vydáno 2021Text -
7
Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype Autor 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
Vydáno 2021Text