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Molecular Genetics & Genomic Medicine|April 15, 2022
Quadruple genetic variants in a sporadic ALS patientRüstem Yilmaz, Kanchi Weishaupt, Ivan Valkadinov, et al.
Plos Genetics|March 31, 2015
Combinatorial control of light induced chromatin remodeling and gene activation in NeurosporaCigdem Sancar, Nati Ha, Rüstem Yilmaz, et al.
NAR Genomics and Bioinformatics|April 25, 2025
Identifying similar populations across independent single cell studies without data integrationOscar González-Velasco, Malte Simon, Rüstem Yilmaz, et al.
American Journal of Medical Genetics. Part A|September 4, 2015
A recurrent synonymous KAT6B mutation causes Say-Barber-Biesecker/Young-Simpson syndrome by inducing aberrant splicingRüstem Yilmaz, Ana Beleza-Meireles, Susan Price, et al.
The Journal of Clinical Investigation|February 5, 2013
CXCL5 limits macrophage foam cell formation in atherosclerosisAnthony Rousselle, Fatimunnisa Qadri, Lisa Leukel, et al.
BMC Medical Genetics|May 9, 2020
A novel nonsense variant in SLC24A4 causing a rare form of amelogenesis imperfecta in a Pakistani familySher Alam Khan, Muhammad Adnan Khan, Nazif Muhammad, et al.
Neurogenetics|September 14, 2021
FUS mutations dominate TBK1 mutations in FUS/TBK1 double-mutant ALS/FTD pedigreesDavid Brenner, Kathrin Müller, Serena Lattante, et al.
American Journal of Medical Genetics. Part A|November 22, 2017
Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patientsRüstem Yilmaz, Katalin Szakszon, Anna Altmann, et al.
Human Genetics|November 2, 2017
Mutations of PTPN23 in developmental and epileptic encephalopathyNadine Sowada, Mais Omar Hashem, Rüstem Yilmaz, et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration|January 18, 2023
Frequency of <i>C9orf72</i> and <i>SOD1</i> mutations in 302 sporadic ALS patients from three German ALS centersRüstem Yilmaz, Torsten Grehl, Lukas Eckrich, et al.
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