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Year Number of Results
1993 1
2002 2
2003 1
2004 1
2005 3
2006 2
2007 2
2008 1
2010 3
2011 3
2012 2
2013 3
2014 2
2017 1
2018 2
2019 1
2020 3
2021 4
2022 3
2024 0

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33 results

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Page 1
Identifying adult hypophosphatasia in the rheumatology unit.
Feurstein J, Behanova M, Haschka J, Roetzer K, Uyanik G, Hadzimuratovic B, Witsch-Baumgartner M, Schett G, Zwerina J, Kocijan R. Feurstein J, et al. Among authors: uyanik g. Orphanet J Rare Dis. 2022 Dec 14;17(1):435. doi: 10.1186/s13023-022-02572-7. Orphanet J Rare Dis. 2022. PMID: 36514157 Free PMC article.
Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Wiessner M, Maroofian R, Ni MY, Pedroni A, Müller JS, Stucka R, Beetz C, Efthymiou S, Santorelli FM, Alfares AA, Zhu C, Uhrova Meszarosova A, Alehabib E, Bakhtiari S, Janecke AR, Otero MG, Chen JYH, Peterson JT, Strom TM, De Jonghe P, Deconinck T, De Ridder W, De Winter J, Pasquariello R, Ricca I, Alfadhel M, van de Warrenburg BP, Portier R, Bergmann C, Ghasemi Firouzabadi S, Jin SC, Bilguvar K, Hamed S, Abdelhameed M, Haridy NA, Maqbool S, Rahman F, Anwar N, Carmichael J, Pagnamenta AT, Wood NW, Tran Mau-Them F, Haack T; Genomics England Research Consortium, PREPARE network; Di Rocco M, Ceccherini I, Iacomino M, Zara F, Salpietro V, Scala M, Rusmini M, Xu Y, Wang Y, Suzuki Y, Koh K, Nan H, Ishiura H, Tsuji S, Lambert L, Schmitt E, Lacaze E, Küpper H, Dredge D, Skraban C, Goldstein A, Willis MJH, Grand K, Graham JM, Lewis RA, Millan F, Duman Ö, Olgac Dundar N, Uyanik G, Schöls L, Nürnberg P, Nürnberg G, Català-Bordes A, Seeman P, Kuchar M, Darvish H, Rebelo A, Bouçanova F, Medard JJ, Chrast R, Auer-Grumbach M, Alkuraya FS, Shamseldin H, Al Tala S, Rezazadeh Varaghchi J, Najafi M, Deschner S, Gläser D, Hüttel W, Kruer MC, Kamsteeg EJ, Takiyama Y, Züchner S, Baets J, Synofzik… See abstract for full author list ➔ Wiessner M, et al. Among authors: uyanik g. Brain. 2021 Sep 4;144(8):e70. doi: 10.1093/brain/awab193. Brain. 2021. PMID: 34480796 Free PMC article. No abstract available.
Genotype-phenotype correlations in ocular manifestations of Marinesco-Sjögren syndrome: Case report and literature review.
Bayram N, Kaçar Bayram A, Daimagüler HS, Dafsari HS, Bamborschke D, Uyanik G, Erdogan M, Özsaygılı C, Pangal E, Yuvaci İ, Doğanay S, Gümüş H, Per H, Jungbluth H, Çırak S. Bayram N, et al. Among authors: uyanik g. Eur J Ophthalmol. 2022 May;32(3):NP92-NP97. doi: 10.1177/11206721211021291. Epub 2021 Jun 2. Eur J Ophthalmol. 2022. PMID: 34075802
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Wiessner M, Maroofian R, Ni MY, Pedroni A, Müller JS, Stucka R, Beetz C, Efthymiou S, Santorelli FM, Alfares AA, Zhu C, Uhrova Meszarosova A, Alehabib E, Bakhtiari S, Janecke AR, Otero MG, Chen JYH, Peterson JT, Strom TM, De Jonghe P, Deconinck T, De Ridder W, De Winter J, Pasquariello R, Ricca I, Alfadhel M, van de Warrenburg BP, Portier R, Bergmann C, Ghasemi Firouzabadi S, Jin SC, Bilguvar K, Hamed S, Abdelhameed M, Haridy NA, Maqbool S, Rahman F, Anwar N, Carmichael J, Pagnamenta A, Wood NW, Tran Mau-Them F, Haack T; Genomics England Research Consortium, PREPARE network; Di Rocco M, Ceccherini I, Iacomino M, Zara F, Salpietro V, Scala M, Rusmini M, Xu Y, Wang Y, Suzuki Y, Koh K, Nan H, Ishiura H, Tsuji S, Lambert L, Schmitt E, Lacaze E, Küpper H, Dredge D, Skraban C, Goldstein A, Willis MJH, Grand K, Graham JM, Lewis RA, Millan F, Duman Ö, Dündar N, Uyanik G, Schöls L, Nürnberg P, Nürnberg G, Catala Bordes A, Seeman P, Kuchar M, Darvish H, Rebelo A, Bouçanova F, Medard JJ, Chrast R, Auer-Grumbach M, Alkuraya FS, Shamseldin H, Al Tala S, Rezazadeh Varaghchi J, Najafi M, Deschner S, Gläser D, Hüttel W, Kruer MC, Kamsteeg EJ, Takiyama Y, Züchner S, Baets J, Synofzik M, Sch… See abstract for full author list ➔ Wiessner M, et al. Among authors: uyanik g. Brain. 2021 Jun 22;144(5):1422-1434. doi: 10.1093/brain/awab041. Brain. 2021. PMID: 33970200 Free PMC article.
Clinical, Hematologic, Biologic and Molecular Characteristics of Patients with Myeloproliferative Neoplasms and a Chronic Myelomonocytic Leukemia-Like Phenotype.
Heibl S, Gisslinger B, Jäger E, Barna A, Gurbisz M, Stegemann M, Bettelheim P, Machherndl-Spandl S, Pfeilstöcker M, Nösslinger T, Uyanik G, Hoermann G, Stauder R, Thaler J, Kusec R, Valent P, Gisslinger H, Geissler K. Heibl S, et al. Among authors: uyanik g. Cancers (Basel). 2020 Jul 14;12(7):1891. doi: 10.3390/cancers12071891. Cancers (Basel). 2020. PMID: 32674283 Free PMC article.
Alterations of bone material properties in adult patients with X-linked hypophosphatemia (XLH).
Fratzl-Zelman N, Gamsjaeger S, Blouin S, Kocijan R, Plasenzotti P, Rokidi S, Nawrot-Wawrzyniak K, Roetzer K, Uyanik G, Haeusler G, Shane E, Cohen A, Klaushofer K, Paschalis EP, Roschger P, Fratzl P, Zwerina J, Zwettler E. Fratzl-Zelman N, et al. Among authors: uyanik g. J Struct Biol. 2020 Sep 1;211(3):107556. doi: 10.1016/j.jsb.2020.107556. Epub 2020 Jun 30. J Struct Biol. 2020. PMID: 32619592
Childhood onset limb-girdle muscular dystrophies in the Aegean part of Turkey.
Yiş U, Diniz G, Hazan F, Daimagüler HS, Baysal BT, Baydan F, Akinci G, Ünalp A, Aktan G, Bayram E, Hiz S, Paketçi C, Okur D, Özer E, Danyeli AE, Polat M, Uyanik G, Çirak S. Yiş U, et al. Among authors: uyanik g. Acta Myol. 2018 Sep 1;37(3):210-220. eCollection 2018 Sep. Acta Myol. 2018. PMID: 30838351 Free PMC article.
DCX-Related Disorders.
Hehr U, Uyanik G, Aigner L, Couillard-Despres S, Winkler J. Hehr U, et al. Among authors: uyanik g. 2007 Oct 19 [updated 2019 Feb 7]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2007 Oct 19 [updated 2019 Feb 7]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301364 Free Books & Documents. Review.
33 results