Browsing Universitätsbibliographie by Author "Peralta, Susana"

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Browsing Universitätsbibliographie by Author "Peralta, Susana"

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  • Clinical and genetic investigation of 14 families with various forms of short stature syndromes
    Khan, Fati Ullah; Khan, Hammal; Ullah, Kifayat; Nawaz, Shoaib; Khan, Muhammad Javed; Ahmed, Sohail; Ilyas, Muhammad; Ali, Amjad; Ullah, Imran; Sohail, Aamir; Hussain, Shabir; Ahmad, Farooq; Sufyan, Raza; Hayat, Amir; Hanif, Tooba; Bibi, Fatima; Hayat, Maria; Ullah, Rehmat; Khan, Inam Ullah; Ali, Raja Hussain; Hasni, Muhammad Sharif; Ali, Hamid; Bilal, Muhammad; Peralta, Susana; Buchert, Rebecca; Zehri, Zamrud; Hassan, Gul; Liaqat, Khurrum; Zahid, Muhammad; Shah, Khadim; Mikitie, Outi; Haack, Tobias B.; Ji, Weizhen; Lakhani, Saquib A.; Ansar, Muhammad; Ahmad, Wasim (2024)
  • EEFSEC deficiency: A selenopathy with early-onset neurodegeneration
    Laugwitz, Lucia; Buchert, Rebecca; Olguin, Patricio; Estiar, Mehrdad A.; Atanasova, Mihaela; Marques, Wilson, Jr.; Enssle, Joerg; Marsden, Brian; Aviles, Javiera; Gonzalez-Gutierrez, Andres; Candia, Noemi; Fabiano, Marietta; Morlot, Susanne; Peralta, Susana; Groh, Alisa; Schillinger, Carmen; Kuehn, Carolin; Sofan, Linda; Sturm, Marc; Bender, Benjamin; Tomaselli, Pedro J.; Diebold, Uta; Mueller, Amelie J.; Spranger, Stephanie; Fuchs, Maren; Freua, Fernando; Melo, Uira Souto; Mattas, Lauren; Ashtiani, Setareh; Suchowersky, Oksana; Groeschel, Samuel; Rouleau, Guy A.; Yosovich, Keren; Michelson, Marina; Leibovitz, Zvi; Bilal, Muhammad; Uctepe, Eyyup; Yesilyurt, Ahmet; Ozdogan, Orhan; Celik, Tamer; Kraegeloh-Mann, Ingeborg; Riess, Olaf; Rosewich, Hendrik; Umair, Muhammad; Lev, Dorit; Zuchner, Stephan; Schweizer, Ulrich; Lynch, David S.; Gan-Or, Ziv; Hack, Tobias B. (2025)
  • Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes
    Laugwitz, Lucia; Seibt, Annette; Herebian, Diran; Peralta, Susana; Kienzle, Imke; Buchert, Rebecca; Falb, Ruth; Gauck, Darja; Muller, Amelie; Grimmel, Mona; Beck-Woedel, Stefanie; Kern, Jan; Daliri, Karim; Katibeh, Pegah; Danhauser, Katharina; Leiz, Steffen; Alesi, Viola; Baertling, Fabian; Vasco, Gessica; Steinfeld, Robert; Wagner, Matias; Caglayan, Ahmet Okay; Gumus, Hakan; Burmeister, Margit; Mayatepek, Ertan; Martinelli, Diego; Tamhankar, Parag Mohan; Tamhankar, Vasundhara; Joset, Pascal; Steindl, Katharina; Rauch, Anita; Bonnen, Penelope E.; Froukh, Tawfiq; Groeschel, Samuel; Krageloh-Mann, Ingeborg; Haack, Tobias B.; Distelmaier, Felix (2022)
  • Mutations in mitochondrial ATAD3 gene and disease, lessons from in vivo models
    Bruegel, Marcel; Kiesel, Ann-Sophie; Haack, Tobias B.; Peralta, Susana (2024)