Zobrazeno 1 - 10
of 122
pro vyhledávání: '"Gozde Yesil"'
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-10 (2022)
Abstract Objective Alström syndrome (ALMS) is a rare autosomal recessive genetic disorder that is caused by homozygous or compound heterozygous mutation in the ALMS1 gene. Dilated cardiomyopathy (DCM) is one of the well-recognized features of the sy
Externí odkaz:
https://doaj.org/article/c5028f6768bb450da73bbe2f99f54eb2
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-8 (2021)
Abstract Background The diagnosis of the rare genetic diseases has great importance in treating multisystemic conditions, preventing potential complications, and estimating disease risk for family members. The duration of obtaining genetic test resul
Externí odkaz:
https://doaj.org/article/75026c770a4f4446b005df84abe0745d
Akademický článek
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Akademický článek
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Autor:
Naci Senkal, Istemi Serin, Sacide Pehlivan, Mustafa Pehlivan, Alpay Medetalibeyoglu, Timurhan Cebeci, Hilal Konyaoglu, Yasemin Oyacı, Gozde Yesil Sayın, Ummuhan Isoglu-Alkac, Tufan Tukek, Murat Kose
Publikováno v:
Nucleosides, Nucleotides & Nucleic Acids. :1-15
Publikováno v:
Journal of Clinical Research in Pediatric Endocrinology. 14:475-480
Odontochondrodysplasia (ODCD, OMIM #184260) is a quite rare non-lethal skeletal dysplasia characterized by involvement of the spine and metaphyseal regions of the long bones, pulmonary hypoplasia, short stature, joint hypermobility, and dentinogenesi
Akademický článek
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Publikováno v:
Journal of Clinical Research in Pediatric Endocrinology.
Background Variations in the TRAPPC12present many symptoms, including microcephaly, agenesis of corpus callosum, cerebellar atrophy, and epilepsy. These features indicate a broad range of mortality and morbidity. Identifying a variation with function
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::52b2e68b7428e89f0568722f29caccce
https://doi.org/10.21203/rs.3.rs-2552844/v1
https://doi.org/10.21203/rs.3.rs-2552844/v1
Autor:
Ken Saida, Reza Maroofian, Toru Sengoku, Tadahiro Mitani, Alistair T. Pagnamenta, Dana Marafi, Maha S. Zaki, Thomas J. O’Brien, Ehsan Ghayoor Karimiani, Rauan Kaiyrzhanov, Marina Takizawa, Sachiko Ohori, Huey Yin Leong, Gulsen Akay, Hamid Galehdari, Mina Zamani, Ratna Romy, Christopher J. Carroll, Mehran Beiraghi Toosi, Farah Ashrafzadeh, Shima Imannezhad, Hadis Malek, Najmeh Ahangari, Hoda Tomoum, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, David Murphy, Natalia Dominik, Hasnaa M. Elbendary, Karima Rafat, Sanem Yilmaz, Seda Kanmaz, Mine Serin, Deepa Krishnakumar, Alice Gardham, Anna Maw, Tekki Sreenivasa Rao, Sarah Alsubhi, Myriam Srour, Daniela Buhas, Tamison Jewett, Rachel E. Goldberg, Hanan Shamseldin, Eirik Frengen, Doriana Misceo, Petter Strømme, José Ricardo Magliocco Ceroni, Chong Ae Kim, Gozde Yesil, Esma Sengenc, Serhat Guler, Mariam Hull, Mered Parnes, Dilek Aktas, Banu Anlar, Yavuz Bayram, Davut Pehlivan, Jennifer E. Posey, Shahryar Alavi, Seyed Ali Madani Manshadi, Hamad Alzaidan, Mohammad Al-Owain, Lama Alabdi, Ferdous Abdulwahab, Futoshi Sekiguchi, Kohei Hamanaka, Atsushi Fujita, Yuri Uchiyama, Takeshi Mizuguchi, Satoko Miyatake, Noriko Miyake, Reem M. Elshafie, Kamran Salayev, Ulviyya Guliyeva, Fowzan S. Alkuraya, Joseph G. Gleeson, Kristin G. Monaghan, Katherine G. Langley, Hui Yang, Mahsa Motavaf, Saeid Safari, Mozhgan Alipour, Kazuhiro Ogata, André E.X. Brown, James R. Lupski, Henry Houlden, Naomichi Matsumoto
Purpose: Brain monoamine vesicular transport disease is an infantile-onset movement disorder that mimics cerebral palsy. In 2013, the homozygous SLC18A2 variant, p.Pro387Leu, was first reported as a cause of this rare disorder, and dopamine agonists
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40233c210f0a1535cbb0ddd886c14d67
https://hdl.handle.net/11454/79547
https://hdl.handle.net/11454/79547