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Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia.
Dafsari HS, Sprute R, Wunderlich G, Daimagüler HS, Karaca E, Contreras A, Becker K, Schulze-Rhonhof M, Kiening K, Karakulak T, Kloss M, Horn A, Pauls A, Nürnberg P, Altmüller J, Thiele H, Assmann B, Koy A, Cirak S. Dafsari HS, et al. Among authors: daimaguler hs. J Hum Genet. 2019 Aug;64(8):803-813. doi: 10.1038/s10038-019-0625-1. Epub 2019 Jun 5. J Hum Genet. 2019. PMID: 31165786
Correction to: Novel mutations in KMT2B offer pathophysiological insights on childhood-onset progressive dystonia.
Dafsari HS, Sprute R, Wunderlich G, Daimagüler HS, Karaca E, Contreras A, Becker K, Schulze-Rhonhof M, Kiening K, Karakulak T, Kloss M, Horn A, Pauls A, Nürnberg P, Altmüller J, Thiele H, Assmann B, Koy A, Cirak S. Dafsari HS, et al. Among authors: daimaguler hs. J Hum Genet. 2019 Oct;64(10):1051-1054. doi: 10.1038/s10038-019-0644-y. J Hum Genet. 2019. PMID: 31388109
The genomic and clinical landscape of fetal akinesia.
Pergande M, Motameny S, Özdemir Ö, Kreutzer M, Wang H, Daimagüler HS, Becker K, Karakaya M, Ehrhardt H, Elcioglu N, Ostojic S, Chao CM, Kawalia A, Duman Ö, Koy A, Hahn A, Reimann J, Schoner K, Schänzer A, Westhoff JH, Schwaibold EMC, Cossee M, Imbert-Bouteille M, von Pein H, Haliloglu G, Topaloglu H, Altmüller J, Nürnberg P, Thiele H, Heller R, Cirak S. Pergande M, et al. Among authors: daimaguler hs. Genet Med. 2020 Mar;22(3):511-523. doi: 10.1038/s41436-019-0680-1. Epub 2019 Nov 4. Genet Med. 2020. PMID: 31680123 Free article.
Mutation in CEP135 causing primary microcephaly and subcortical heterotopia.
Bamborschke D, Daimagüler HS, Hahn A, Hussain MS, Nürnberg P, Cirak S. Bamborschke D, et al. Among authors: daimaguler hs. Am J Med Genet A. 2020 Oct;182(10):2450-2453. doi: 10.1002/ajmg.a.61762. Epub 2020 Jul 9. Am J Med Genet A. 2020. PMID: 32643282 No abstract available.
Bi-allelic mutations in PRUNE lead to neurodegeneration with spinal motor neuron involvement and hyperCKaemia.
Okur D, Daimagüler HS, Danyeli AE, Tekgül H, Wang H, Wunderlich G, Çırak S, Yiş U. Okur D, et al. Among authors: daimaguler hs. Turk J Pediatr. 2019;61(6):931-936. doi: 10.24953/turkjped.2019.06.015. Turk J Pediatr. 2019. PMID: 32134588 Free article.
Okur D, Daimaguler HS, Ersen Danyeli A, Tekgul H, Wang H, Wunderlich G, Cirak S, Yis U. ...
Okur D, Daimaguler HS, Ersen Danyeli A, Tekgul H, Wang H, Wunderlich G, Cirak S, Yis U. ...
19 results