Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Hülya-Sevcan Daimagüler"'
Autor:
Hormos Salimi Dafsari, Nur Mehpare Kocaturk, Hülya-Sevcan Daimagüler, Anna Brunn, Jörg Dötsch, Joachim Weis, Martina Deckert, Sebahattin Cirak
Publikováno v:
Acta Neuropathologica Communications, Vol 7, Iss 1, Pp 1-5 (2019)
Abstract Congenital myopathies (CM) form a genetically heterogeneous group of disorders characterized by perinatal muscle weakness. Here, we report an 11-year old male offspring of consanguineous parents of Lebanese origin. He presented with proximal
Externí odkaz:
https://doaj.org/article/772b453f3d4b44bca52d1245facc463d
Autor:
Haicui Wang, Anne Schänzer, Birgit Kampschulte, Hülya-Sevcan Daimagüler, Thushiha Logeswaran, Hannah Schlierbach, Jutta Petzinger, Harald Ehrhardt, Andreas Hahn, Sebahattin Cirak
Publikováno v:
Acta Neuropathologica Communications, Vol 6, Iss 1, Pp 1-5 (2018)
Externí odkaz:
https://doaj.org/article/099df6e180714e308382a82148ec499b
Autor:
Heinz Jungbluth, Cemal Ozsaygili, Emine Pangal, Hormos Salimi Dafsari, Hüseyin Per, İsa Yuvacı, Nurettin Bayram, Hülya Sevcan Daimagüler, Selim Doganay, Ayşe Kaçar Bayram, Hakan Gümüş, Gökhan Uyanik, Daniel Bamborschke, Murat Erdogan, Sebahattin Cirak
Publikováno v:
European Journal of Ophthalmology. 32:NP92-NP97
Purpose: This study aims to present a family with two children with MSS who presented with different ophthalmic features. We also aim to review MSS patients’ ocular manifestations to provide a basis for future clinical trials and improve MSS patien
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70966ba9355f2e4a1704aa015f8efd10
https://doi.org/10.1177/11206721211021291
https://doi.org/10.1177/11206721211021291
Autor:
Hülya-Sevcan Daimagüler, Peter Nürnberg, Muhammad Sajid Hussain, Sebahattin Cirak, Andreas Hahn, Daniel Bamborschke
Publikováno v:
American Journal of Medical Genetics Part A. 182:2450-2453
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1915c7121c2e361f4aca6ef67d479d36
https://doi.org/10.1002/ajmg.a.61762
https://doi.org/10.1002/ajmg.a.61762
Autor:
Hülya-Sevcan Daimagüler, Max C. Liebau, Daniel Bender, Joshua B. Kohl, Guenter Schwarz, Anne Koy, Jose Angel Santamaria-Araujo, Titus Gehling, Alexander T. Kaczmarek, Sebahattin Cirak
Publikováno v:
Journal of inherited metabolic diseaseREFERENCES. 45(2)
Isolated sulfite oxidase deficiency (ISOD) is a rare recessive and infantile lethal metabolic disorder, which is caused by functional loss of sulfite oxidase (SO) due to mutations of the SUOX gene. SO is a mitochondrially localized molybdenum cofacto
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd9f423eee3adf21182ff145c68e508c
https://pubmed.ncbi.nlm.nih.gov/34741542
https://pubmed.ncbi.nlm.nih.gov/34741542
Autor:
Didem Ardicli, Hülya-Sevcan Daimagüler, Juan S. Bonifacino, Sebahattin Cirak, Tal Keren-Kaplan, Haluk Topaloglu, Peter Nürnberg
Publikováno v:
Abstracts of the 46th Annual Meeting of the Society for Neuropediatrics.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d2679a9b65c182a6df0935421eac0d46
https://doi.org/10.1055/s-0041-1739691
https://doi.org/10.1055/s-0041-1739691
Autor:
Anna Brunn, Federica Diofano, Joachim Weis, Steffen Just, Hülya-Sevcan Daimagüler, Hormos Salimi Dafsari, Martina Deckert, Sebahattin Cirak, Peter Nürnberg
Publikováno v:
Abstracts of the 46th Annual Meeting of the Society for Neuropediatrics.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6fecf1511308d12b16a26331f4569598
https://doi.org/10.1055/s-0041-1739597
https://doi.org/10.1055/s-0041-1739597
Autor:
Matthias Pergande, Thomas Lücke, Ezgi Karaca, Hülya-Sevcan Daimagüler, James R. Lupski, Kym D. Kernohan, Pascal Joset, Jennifer E. Posey, Anna Kostera-Pruszczyk, Peter Nürnberg, Rosanne Sprute, Jaya Punetha, Anita Rauch, Sebahattin Cirak, Anju Shukla, Priya T. Bhola, Özkan Özdemir
Publikováno v:
Abstracts of the 46th Annual Meeting of the Society for Neuropediatrics.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4c3d5989ee0e9a1afe36d921d7c2f4e2
https://doi.org/10.1055/s-0041-1739693
https://doi.org/10.1055/s-0041-1739693
Autor:
Peter Nürnberg, Katharina Schoner, Haluk Topaloglu, Goknur Haliloglu, Janine Altmüller, Mert Karakaya, Harald Ehrhardt, Hülya-Sevcan Daimagüler, Susanne Motameny, Sebahattin Cirak, Anne Koy, Eva Maria Christina Schwaibold, Mona Kreutzer, Kerstin Becker, Cho-Ming Chao, Marion Imbert-Bouteille, Haicui Wang, Matthias Pergande, Amit Kawalia, Jens H. Westhoff, Jens Reimann, Slavica Ostojic, Harald von Pein, Nursel Elcioglu, Özkan Özdemir, Mireille Cossée, Andreas Hahn, Özgür Duman, Holger Thiele, Raoul Heller, Anne Schänzer
Publikováno v:
Genetics in Medicine. 22:1426-1428
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5616830bf68f577fe4cdbee31bd9df83
https://doi.org/10.1038/s41436-020-0839-9
https://doi.org/10.1038/s41436-020-0839-9
Autor:
Hülya-Sevcan Daimagüler, Hormos Salimi Dafsari, Annette Horn, Tülay Karakulak, Rosanne Sprute, Karl L. Kiening, Adriana Contreras, Ezgi Karaca, Birgit Assmann, Holger Thiele, Amande Pauls, Janine Altmüller, Mira Schulze-Rhonhof, Anne Koy, Sebahattin Cirak, Gilbert Wunderlich, Peter Nürnberg, Kerstin Becker, Manja Kloss
Publikováno v:
Journal of Human Genetics. 64:1051-1054
Rapid progress has recently been made in the elucidation of the genetic basis of childhood-onset inherited generalized dystonia (IGD) due to the implementation of genomic sequencing methodologies. We identified four patients with childhood-onset IGD
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::08e6d10e06dc83270a31067943388a4b
https://doi.org/10.1038/s10038-019-0644-y
https://doi.org/10.1038/s10038-019-0644-y