Search Results - Reza MAROOFIAN

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

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Neuroinflammation and Lysosomal Abnormalities Characterise the Essential Role for Oxidation Resistance 1 in the Developing and Adult Cerebellum by Eboni M. V. Bucknor, Errin Johnson, Stephanie Efthymiou, Javeria R. Alvi, Tipu Sultan, Henry Houlden, Reza Maroofian, Ehsan G. Karimiani, Mattéa J. Finelli, Peter L. Oliver

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The conserved p.Arg108 residue in S1PR2 (DFNB68) is fundamental for proper hearing: evidence from a consanguineous Iranian family by 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

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A Novel Mutation in the OFD1 Gene in a Family with Oral-Facial-Digital Syndrome Type 1: A Case Report by Masoud DEHGHAN TEZERJANI, Reza MAROOFIAN, Mohammad Yahya VAHIDI MEHRJARDI, Barry A. CHIOZA, Shiva ZAMANINEJAD, Seyed Mehdi KALANTAR, Mahmoud NORI-SHADKAM, Hamidreza GHADIMI, Emma L. BAPLE, Andrew H. CROSBY, Mohammadreza DEHGHANI

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Expanding the clinical phenotype of IARS2-related mitochondrial disease by 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

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