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Jump to: 2021 | 2018 | 2017
Number of items: 5.

2021

Daimagueler, Huelya-Sevcan, Akpulat, Ugur, Oezdemir, Oezkan, Yis, Uluc, Gungor, Serdal, Talim, Beril, Diniz, Gulden, Baydan, Figen, Thiele, Holger, Altmueller, Janine, Nuernberg, Peter and Cirak, Sebahattin (2021). Clinical and genetic characterization of PYROXD1-related myopathy patients from Turkey. Am. J. Med. Genet. A, 185 (6). S. 1678 - 1691. HOBOKEN: WILEY. ISSN 1552-4833

Ghosh, Shereen G., Becker, Kerstin, Huang, He, Salazar, Tracy D., Chai, Guoliang, Salpietro, Vincenzo, Al-Gazali, Lihadh, Waisfisz, Quinten ORCID: 0000-0002-7384-9182, Wang, Haicui, Vaux, Keith K., Stanley, Valentina, Manole, Andreea, Akpulat, Ugur, Weiss, Marjan M., Efthymiou, Stephanie ORCID: 0000-0003-4900-9877, Hanna, Michael G., Minetti, Carlo, Striano, Pasquale, Pisciotta, Livia, De Grandis, Elisa, Altmuller, Janine, Weixler, Lisa ORCID: 0000-0003-4453-017X, Nurnberg, Peter, Thiele, Holger, Yis, Uluc, Okur, Tuncay Derya, Polat, Ayse Ipek, Amiri, Nafise, Doosti, Mohammad, Karimani, Ehsan Ghayoor, Toosi, Mehran B., Haddad, Gabriel, Karakaya, Mert, Wirth, Brunhilde, van Hagen, Johanna M., Wolf, Nicole I., Maroofian, Reza, Houlden, Henry, Cirak, Sebahattin and Gleeson, Joseph G. (2021). Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome (vol 103, pg 431, 2018). Am. J. Hum. Genet., 108 (12). S. 2385 - 2386. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

2018

Akpulat, Ugur, Wang, Haicui, Becker, Kerstin, Contreras, Adriana, Partridge, Terence A., Novak, James S. and Cirak, Sebahattin (2018). Shorter Phosphorodiamidate Morpholino Splice-Switching Oligonucleotides May Increase Exon-Skipping Efficacy in DMD. Mol. Ther.-Nucl. Acids, 13. S. 534 - 543. CAMBRIDGE: CELL PRESS. ISSN 2162-2531

Ghosh, Shereen G., Becker, Kerstin, Huang, He, Salazar, Tracy D., Chai, Guoliang, Salpietro, Vincenzo, Al-Gazali, Lihadh, Waisfisz, Quinten, Wang, Haicui, Vaux, Keith K., Stanley, Valentina, Manole, Andreea, Akpulat, Ugur, Weiss, Marjan M., Efthymiou, Stephanie, Hanna, Michael G., Minetti, Carlo, Striano, Pasquale ORCID: 0000-0002-6065-1476, Pisciotta, Livia, De Grandis, Elisa, Altmueller, Janine, Nuernberg, Peter, Thiele, Holger, Yis, Uluc, Okur, Tuncay Derya, Polat, Ayse Ipek, Amiri, Nafise, Doosti, Mohammad, Karimani, Ehsan Ghayoor, Toosi, Mehran B., Haddad, Gabriel, Karakaya, Mert, Wirth, Brunhilde ORCID: 0000-0003-4051-5191, van Hagen, Johanna M., Wolf, Nicole I., Maroofian, Reza, Houlden, Henry, Cirak, Sebahattin and Gleeson, Joseph G. (2018). Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome. Am. J. Hum. Genet., 103 (3). S. 431 - 440. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

2017

Wang, Haicui, Salter, Claire G., Refai, Osama ORCID: 0000-0002-5870-5236, Hardy, Holly, Barwick, Katy E. S., Akpulat, Ugur, Kvarnung, Malin, Chioza, Barry A., Harlalka, Gaurav, Taylan, Fulya ORCID: 0000-0002-2907-0235, Sejersen, Thomas, Wright, Jane, Zimmerman, Holly H., Karakaya, Mert, Stueve, Burkhardt, Weis, Joachim, Schara, Ulrike, Russell, Mark A., Abdul-Rahman, Omar A., Chilton, John, Blakely, Randy D., Baple, Emma L., Cirak, Sebahattin and Crosby, Andrew H. (2017). Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization. Brain, 140. S. 2838 - 2851. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2156

This list was generated on Thu Mar 28 22:22:04 2024 CET.