Showing 1 - 11 results of 11 for search 'Julia Bock', query time: 0.04s
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Neurodegenerative Lysosomal Storage Disorders: TPC2 Comes to the Rescue! by Sandra Prat Castro, Veronika Kudrina, Dawid Jaślan, Julia Böck, Anna Scotto Rosato, Christian Grimm
Published 2022-09-01
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Human genome diversity data reveal that L564P is the predominant TPC2 variant and a prerequisite for the blond hair associated M484L gain-of-function effect. by Julia Böck, Einar Krogsaeter, Marcel Passon, Yu-Kai Chao, Sapna Sharma, Harald Grallert, Annette Peters, Christian Grimm
Published 2021-01-01
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Targeted panel sequencing in the routine diagnosis of mature T- and NK-cell lymphomas: report of 128 cases from two German reference centers by Julia Böck, Katja Maurus, Elena Gerhard-Hartmann, Stephanie Brändlein, Katrin S. Kurz, German Ott, Ioannis Anagnostopoulos, Andreas Rosenwald, Alberto Zamò
Published 2023-08-01
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Hypermethylation of the non-imprinted maternal MEG3 and paternal MEST alleles is highly variable among normal individuals. by Larissa Haertle, Anna Maierhofer, Julia Böck, Harald Lehnen, Yvonne Böttcher, Matthias Blüher, Martin Schorsch, Ramya Potabattula, Nady El Hajj, Silke Appenzeller, Thomas Haaf
Published 2017-01-01
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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 by Caroline Lekszas, Indrajit Nanda, Barbara Vona, Julia Böck, Farah Ashrafzadeh, Nahid Donyadideh, Farnoosh Ebrahimzadeh, Najmeh Ahangari, Reza Maroofian, Ehsan Ghayoor Karimiani, Thomas Haaf
Published 2019-06-01
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Hypermethylation of RAD9A intron 2 in childhood cancer patients, leukemia and tumor cell lines suggest a role for oncogenic transformation by Danuta Galetzka, Julia Böck, Lukas Wagner, Marcus Dittrich, Olesja Sinizyn, Marco Ludwig, Heidi Rossmann, Claudia Spix, Markus Radsak, Peter Scholz-Kreisel, Johanna Mirsch, Matthias Linke, Walburgis Brenner, Manuela Marron, Alicia Poplawski, Thomas Haaf, Heinz Schmidberger, Dirk Prawitt
Published 2022-01-01
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TPC2 rescues lysosomal storage in mucolipidosis type IV, Niemann–Pick type C1, and Batten disease by Anna Scotto Rosato, Einar K Krogsaeter, Dawid Jaślan, Carla Abrahamian, Sandro Montefusco, Chiara Soldati, Barbara Spix, Maria Teresa Pizzo, Giuseppina Grieco, Julia Böck, Amanda Wyatt, Daniela Wünkhaus, Marcel Passon, Marc Stieglitz, Marco Keller, Guido Hermey, Sandra Markmann, Doris Gruber‐Schoffnegger, Susan Cotman, Ludger Johannes, Dennis Crusius, Ulrich Boehm, Christian Wahl‐Schott, Martin Biel, Franz Bracher, Elvira De Leonibus, Elena Polishchuk, Diego L Medina, Dominik Paquet, Christian Grimm
Published 2022-08-01
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