Auflistung 4 Medizinische Fakultät nach Autor "Buena Atienza, Elena"

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Auflistung 4 Medizinische Fakultät nach Autor "Buena Atienza, Elena"

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  • A 73,128 bp de novo deletion encompassing the OPN1LW/OPN1MW gene cluster in sporadic Blue Cone Monochromacy : a case report
    Buena-Atienza, Elena; Nasser, Fadi; Kohl, Susanne; Wissinger, Bernd (2018)
  • Accurate long-read sequencing identified GBA1 as major risk factor in the Luxembourgish Parkinson's study
    Pachchek, Sinthuja; Landoulsi, Zied; Pavelka, Lukas; Schulte, Claudia; Buena-Atienza, Elena; Gross, Caspar; Hauser, Ann-Kathrin; Reddy Bobbili, Dheeraj; Casadei, Nicolas; May, Patrick; Krueger, Rejko; Acharya, Geeta; Aguayo, Gloria; Alexandre, Myriam; Ali, Muhammad; Ammerlann, Wim; Arena, Giuseppe; Balling, Rudi; Bassis, Michele; Batutu, Roxane; Beaumont, Katy; Becker, Regina; Bellora, Camille; Berchem, Guy; Berg, Daniela; Bisdorff, Alexandre; Boussaad, Ibrahim; Bouvier, David; Brockmann, Kathrin; Calmes, Jessica; Castillo, Lorieza; Contesotto, Gessica; De Bremaeker, Nancy; Diederich, Nico; Dondelinger, Rene; E. Ramia, Nancy; Esteves, Daniela; Fagherazzi, Guy; Ferrand, Jean-Yves; Frauenknecht, Katrin; Gantenbein, Manon; Gasser, Thomas; Gawron, Piotr; Ghosh, Soumyabrata; Giraitis, Marijus; Glaab, Enrico; Goergen, Martine; Gomez De Lope, Elisa; Graas, Jerome; Graziano, Mariella; Groues, Valentin; Gruenewald, Anne; Gu, Wei; Hammot, Gael; Hanff, Anne-Marie; Hansen, Linda; Heneka, Michael; Henry, Estelle; Herbrink, Sylvia; Herzinger, Sascha; Heymann, Michael; Hu, Michele; Hundt, Alexander; Jacoby, Nadine; Jaroslaw Lebioda, Jacek; Jarosz, Yohan; Jonsdottir, Sonja; Klopfenstein, Quentin; Klucken, Jochen; Lambert, Pauline; Lentz, Roseline; Liepelt, Inga; Liszka, Robert; Longhino, Laura; Lorentz, Victoria; Lupu, Paula Cristina; Marques, Taina M.; Mackay, Clare; Maetzler, Walter; Marcus, Katrin; Marques, Guilherme; Martins Conde, Patricia; Mcintyre, Deborah; Mediouni, Chouaib; Meisch, Francoise; Menster, Myriam; Minelli, Maura; Mittelbronn, Michel; Mollenhauer, Brit; Muehlschlegel, Friedrich; Nati, Romain; Nehrbass, Ulf; Nickels, Sarah; Nicolai, Beatrice; Nicolay, Jean-Paul; Noor, Fozia; Ostaszewski, Marek; P. C. Gomes, Clarissa; Pauly, Claire; Pauly, Laure; Perquin, Magali (2023)
  • De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy
    Buena-Atienza, Elena; Ruether, Klaus; Baumann, Britta; Bergholz, Richard; Birch, David; De Baere, Elfride; Dollfus, Helene; Greally, Marie T.; Gustavsson, Peter; Hamel, Christian P.; Heckenlively, John R.; Leroy, Bart P.; Plomp, Astrid S.; Pott, Jan Willem R.; Rose, Katherine; Rosenberg, Thomas; Stark, Zornitza; Verheij, Joke B. G. M.; Weleber, Richard; Zobor, Ditta; Weisschuh, Nicole; Kohl, Susanne; Wissinger, Bernd (2016)
  • Efficient hybrid de novo assembly of human genomes with WENGAN
    Di Genova, Alex; Buena-Atienza, Elena; Ossowski, Stephan; Sagot, Marie-France (2021)
  • Efficient hybrid de novo assembly of human genomes with WENGAN
    Di Genova, Alex; Buena-Atienza, Elena; Ossowski, Stephan; Sagot, Marie-France (2021)
  • Multisystemic neurodegeneration caused by biallelic pentanucleotide expansions in RFC1
    Herrmann, Laura; Gelderblom, Mathias; Bester, Maxim; Deininger, Natalie; Schuetze, Thorsten; Hidding, Ute; Gross, Caspar; Buena-Atienza, Elena; Dufke, Claudia; Gerloff, Christian; Haack, Tobias B.; Zittel, Simone (2022)
  • Retinitis pigmentosa: impact of different Pde6a point mutations on the disease phenotype
    Sothilingam, Vithiyanjali; Garrido, Marina Garcia; Jiao, Kangwei; Buena-Atienza, Elena; Sahaboglu, Ayse; Trifunovic, Dragana; Balendran, Sukirthini; Koepfli, Tanja; Muehlfriedel, Regine; Schoen, Christian; Biel, Martin; Heckmann, Angelique; Beck, Susanne C.; Michalakis, Stylianos; Wissinger, Bernd; Seeliger, Mathias W.; Paquet-Durand, Francois (2015)
  • Splicing mutations in inherited retinal diseases
    Weisschuh, Nicole; Buena-Atienza, Elena; Wissinger, Bernd (2021)
  • The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy
    Wissinger, Bernd; Baumann, Britta; Buena-Atienza, Elena; Ravesh, Zeinab; Cideciyan, Artur, V; Stingl, Katarina; Audo, Isabelle; Meunier, Isabelle; Bocquet, Beatrice; Traboulsi, Elias, I; Hardcastle, Alison J.; Gardner, Jessica C.; Michaelides, Michel; Branham, Kari E.; Rosenberg, Thomas; Andreasson, Sten; Dollfus, Helene; Birch, David; Vincent, Andrea L.; Martorell, Loreto; Mora, Jaume Catala; Kellner, Ulrich; Ruther, Klaus; Lorenz, Birgit; Preising, Markus N.; Manfredini, Emanuela; Zarate, Yuri A.; Vijzelaar, Raymon; Zrenner, Eberhart; Jacobson, Samuel G.; Kohl, Susanne (2022)