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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: cirak s. 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: cirak s. 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.
A boy with neck weakness.
Yiş U, Becker K, Çırak S. Yiş U, et al. Among authors: cirak s. Neuromuscul Disord. 2018 Mar;28(3):236-237. doi: 10.1016/j.nmd.2017.11.016. Epub 2017 Dec 5. Neuromuscul Disord. 2018. PMID: 29339009 No abstract available.
Occipital cortex dysgenesis with white matter changes due to mutations in Laminin a2.
Yiş U, Dixit V, Işıkay S, Karakaya M, Baydan F, Diniz G, Polat İ, Hız-Kurul S, Çırak S. Yiş U, et al. Among authors: cirak s. Turk J Pediatr. 2017;59(3):338-341. doi: 10.24953/turkjped.2017.03.018. Turk J Pediatr. 2017. PMID: 29376585 Free article.
Yis U, Dixit V, Isikay S, Karakaya M, Baydan F, Diniz G, Polat I, Hiz-Kurul S, Cirak S. ...
Yis U, Dixit V, Isikay S, Karakaya M, Baydan F, Diniz G, Polat I, Hiz-Kurul S, Cirak S. ...
150 results