檢索結果 - Barbara Vona

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  1. 1
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    Whole genome sequencing for newborns-The devil is in the details 由 Barbara Vona

    出版 2022
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  2. 2
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    Unbalanced segregation of a paternal t(9;11)(p24.3;p15.4) translocation causing familial Beckwith-Wiedemann syndrome: a case report 由 Caroline Lekszas, Indrajit Nanda, Barbara Vona, Julia Böck, Farah Ashrafzadeh, Nahid Donyadideh, Farnoosh Ebrahimzadeh, Najmeh Ahangari, Reza Maroofian, Ehsan Ghayoor Karimiani, Thomas Haaf

    出版 2019
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    The conserved p.Arg108 residue in S1PR2 (DFNB68) is fundamental for proper hearing: evidence from a consanguineous Iranian family 由 Michaela A. H. Hofrichter, Majid Mojarad, Julia Doll, Clemens Grimm, Atiye Eslahi, Neda Sadat Hosseini, Mohsen Rajati, Tobias Müller, Marcus Dittrich, Reza Maroofian, Thomas Haaf, Barbara Vona

    出版 2018
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  4. 4
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    Expanding the clinical phenotype of IARS2-related mitochondrial disease 由 Barbara Vona, Reza Maroofian, Emanuele Bellacchio, Maryam Najafi, Kyle Thompson, Ahmad Alahmad, Langping He, Najmeh Ahangari, Abolfazl Rad, Sima Shahrokhzadeh, Paulina Bahena, Falk Mittag, Frank Traub, Jebrail Movaffagh, Nafise Amiri, Mohammad Doosti, Reza Boostani, Ebrahim Shirzadeh, Thomas Haaf, Daria Diodato, Miriam Schmidts, Robert W. Taylor, Ehsan Ghayoor Karimiani

    出版 2018
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