Comparison of Electrocardiographic Parameters by Gender in Heart Failure Patients with Preserved Ejection Fraction via Artificial Intelligence

por Yilmaz, Rustem, Öz, Ersoy
Publicado 2023

Quadruple genetic variants in a sporadic ALS patient

por Yilmaz, Rüstem, Weishaupt, Kanchi, Valkadinov, Ivan, Knehr, Antje, Brenner, David, Weishaupt, Jochen H.
Publicado 2022

Combinatorial Control of Light Induced Chromatin Remodeling and Gene Activation in Neurospora

por Sancar, Cigdem, Ha, Nati, Yilmaz, Rüstem, Tesorero, Rafael, Fisher, Tamas, Brunner, Michael, Sancar, Gencer
Publicado 2015

A novel nonsense variant in SLC24A4 causing a rare form of amelogenesis imperfecta in a Pakistani family

por Khan, Sher Alam, Khan, Muhammad Adnan, Muhammad, Nazif, Bashir, Hina, Khan, Niamat, Muhammad, Noor, Yilmaz, Rüstem, Khan, Saadullah, Wasif, Naveed
Publicado 2020

FUS mutations dominate TBK1 mutations in FUS/TBK1 double-mutant ALS/FTD pedigrees

por Brenner, David, Müller, Kathrin, Lattante, Serena, Yilmaz, Rüstem, Knehr, Antje, Freischmidt, Axel, Ludolph, Albert C., Andersen, Peter M., Weishaupt, Jochen H.
Publicado 2021

Targeted Ablation of Primary Cilia in Differentiated Dopaminergic Neurons Reduces Striatal Dopamine and Responsiveness to Metabolic Stress

por Mustafa, Rasem, Rawas, Chahinaz, Mannal, Nadja, Kreiner, Grzegorz, Spittau, Björn, Kamińska, Katarzyna, Yilmaz, Rüstem, Pötschke, Christina, Kirsch, Joachim, Liss, Birgit, Tucker, Kerry L., Parlato, Rosanna
Publicado 2021

PSEN1/SLC20A2 double mutation causes early-onset Alzheimer’s disease and primary familial brain calcification co-morbidity

por Hebestreit, Sophie, Schwahn, Janine, Sandikci, Vesile, Maros, Mate E., Valkadinov, Ivan, Yilmaz, Rüstem, Eckrich, Lukas, Loghmani, Seyed Babak, Lesch, Hendrik, Conrad, Julian, Wenz, Holger, Ebert, Anne, Brenner, David, Weishaupt, Jochen H.
Publicado 2023

Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice

por Spielmann, Malte, Kakar, Naseebullah, Tayebi, Naeimeh, Leettola, Catherine, Nürnberg, Gudrun, Sowada, Nadine, Lupiáñez, Darío G., Harabula, Izabela, Flöttmann, Ricarda, Horn, Denise, Chan, Wing Lee, Wittler, Lars, Yilmaz, Rüstem, Altmüller, Janine, Thiele, Holger, van Bokhoven, Hans, Schwartz, Charles E., Nürnberg, Peter, Bowie, James U., Ahmad, Jamil, Kubisch, Christian, Mundlos, Stefan, Borck, Guntram
Publicado 2016

Hot-spot KIF5A mutations cause familial ALS

por Brenner, David, Yilmaz, Rüstem, Müller, Kathrin, Grehl, Torsten, Petri, Susanne, Meyer, Thomas, Grosskreutz, Julian, Weydt, Patrick, Ruf, Wolfgang, Neuwirth, Christoph, Weber, Markus, Pinto, Susana, Claeys, Kristl G, Schrank, Berthold, Jordan, Berit, Knehr, Antje, Günther, Kornelia, Hübers, Annemarie, Zeller, Daniel, Kubisch, Christian, Jablonka, Sibylle, Sendtner, Michael, Klopstock, Thomas, de Carvalho, Mamede, Sperfeld, Anne, Borck, Guntram, Volk, Alexander E, Dorst, Johannes, Weis, Joachim, Otto, Markus, Schuster, Joachim, Del Tredici, Kelly, Braak, Heiko, Danzer, Karin M, Freischmidt, Axel, Meitinger, Thomas, Strom, Tim M, Ludolph, Albert C, Andersen, Peter M, Weishaupt, Jochen H
Publicado 2018

Further delineation of the KAT6B molecular and phenotypic spectrum

por Gannon, Tamsin, Perveen, Rahat, Schlecht, Hélene, Ramsden, Simon, Anderson, Beverley, Kerr, Bronwyn, Day, Ruth, Banka, Siddharth, Suri, Mohnish, Berland, Siren, Gabbett, Michael, Ma, Alan, Lyonnet, Stan, Cormier-Daire, Valerie, Yilmaz, Rüstem, Borck, Guntram, Wieczorek, Dagmar, Anderlid, Britt-Marie, Smithson, Sarah, Vogt, Julie, Moore-Barton, Heather, Simsek-Kiper, Pelin Ozlem, Maystadt, Isabelle, Destrée, Anne, Bucher, Jessica, Angle, Brad, Mohammed, Shehla, Wakeling, Emma, Price, Sue, Singer, Amihood, Sznajer, Yves, Toutain, Annick, Haye, Damien, Newbury-Ecob, Ruth, Fradin, Melanie, McGaughran, Julie, Tuysuz, Beyhan, Tein, Mark, Bouman, Katelijne, Dabir, Tabib, Van den Ende, Jenneke, Luk, Ho Ming, Pilz, Daniela T, Eason, Jacqueline, Davies, Sally, Reardon, Willie, Garavelli, Livia, Zuffardi, Orsetta, Devriendt, Koen, Armstrong, Ruth, Johnson, Diana, Doco-Fenzy, Martine, Bijlsma, Emilia, Unger, Sheila, Veenstra-Knol, Hermine E, Kohlhase, Jürgen, Lo, Ivan FM, Smith, Janine, Clayton-Smith, Jill
Publicado 2015