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Journal Article
Bayram, Nurettin 
ORCID: 0000-0003-3244-7328, Kacar Bayram, Ayse, Daimagueler, Hulya-Sevcan, Salimi Dafsari, Hormos ORCID: 0000-0003-3483-5009, Bamborschke, Daniel, Uyanik, Gokhan, Erdogan, Murat, Ozsaygili, Cemal, Pangal, Emine, Yuvaci, Isa, Doganay, Selim, Gumus, Hakan, Per, Huseyin, Jungbluth, Heinz and Cirak, Sebahattin
.
Genotype-phenotype correlations in ocular manifestations of Marinesco-Sjogren syndrome: Case report and literature review.
Eur. J. Ophthalmol..
LONDON:
SAGE PUBLICATIONS LTD.
ISSN 1724-6016
Kaczmarek, Alexander Tobias, Bender, Daniel, Gehling, Titus, Kohl, Joshua Benedict, Daimagueler, Hulya-Sevcan, Santamaria-Araujo, Jose Angel, Liebau, Max Christoph, Koy, Anne, Cirak, Sebahattin and Schwarz, Guenter ORCID: 0000-0002-2118-9338
(2022).
A defect in molybdenum cofactor binding causes an attenuated form of sulfite oxidase deficiency.
J. Inherit. Metab. Dis., 45 (2).
S. 169 - 183.
HOBOKEN:
WILEY.
ISSN 1573-2665
Rees, Martin, Nikoopour, Roksana, Fukuzawa, Atsushi, Kho, Ay Lin, Fernandez-Garcia, Miguel A., Wraige, Elizabeth, Bodi, Istvan, Deshpande, Charu, Oezdemir, Oezkan, Daimagueler, Hulya-Sevcan, Pfuhl, Mark, Holt, Mark, Brandmeier, Birgit, Grover, Sarah, Fluss, Joel, Longman, Cheryl, Farrugia, Maria Elena, Matthews, Emma ORCID: 0000-0002-3810-306X, Hanna, Michael ORCID: 0000-0003-0825-4075, Muntoni, Francesco, Sarkozy, Anna, Phadke, Rahul, Quinlivan, Ros, Oates, Emily C., Schroeder, Rolf, Thiel, Christian, Reimann, Jens ORCID: 0000-0003-3349-6877, Voermans, Nicol, Erasmus, Corrie, Kamsteeg, Erik-Jan, Konersman, Chaminda, Grosmann, Carla, McKee, Shane, Tirupathi, Sandya, Moore, Steven A., Wilichowski, Ekkehard, Hobbiebrunken, Elke, Dekomien, Gabriele, Richard, Isabelle, Van den Bergh, Peter, Dominguez-Gonzalez, Cristina, Cirak, Sebahattin, Ferreiro, Ana, Jungbluth, Heinz and Gautel, Mathias
(2021).
Making sense of missense variants in TTN-related congenital myopathies.
Acta Neuropathol., 141 (3).
S. 431 - 454.
NEW YORK:
SPRINGER.
ISSN 1432-0533
Sprute, Rosanne ORCID: 0000-0003-2457-6437, Ardicli, Didem, Oguz, Kader Karli, Malenica-Mandel, Anna, Daimagueler, Hulya-Sevcan, Koy, Anne, Coskun, Turgay, Wang, Haicui, Topcu, Meral and Cirak, Sebahattin
(2019).
Clinical outcomes of two patients with a novel pathogenic variant in ASNS: response to asparagine supplementation and review of the literature.
Hum. Genom. Var., 6.
LONDON:
NATURE PUBLISHING GROUP.
ISSN 2054-345X