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Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors.
Mishra-Gorur K, Çağlayan AO, Schaffer AE, Chabu C, Henegariu O, Vonhoff F, Akgümüş GT, Nishimura S, Han W, Tu S, Baran B, Gümüş H, Dilber C, Zaki MS, Hossni HA, Rivière JB, Kayserili H, Spencer EG, Rosti RÖ, Schroth J, Per H, Çağlar C, Çağlar Ç, Dölen D, Baranoski JF, Kumandaş S, Minja FJ, Erson-Omay EZ, Mane SM, Lifton RP, Xu T, Keshishian H, Dobyns WB, Chi NC, Šestan N, Louvi A, Bilgüvar K, Yasuno K, Gleeson JG, Günel M. Mishra-Gorur K, et al. Among authors: gumus h. Neuron. 2014 Dec 17;84(6):1226-39. doi: 10.1016/j.neuron.2014.12.014. Neuron. 2014. PMID: 25521378 Free PMC article.
Cohen syndrome with acanthosis nigricans and insulin resistance.
Kumandaş S, Gümüş H, Kurtoğlu S, Elmas B, Kontaş O. Kumandaş S, et al. Among authors: gumus h. J Pediatr Endocrinol Metab. 2001 Jun;14(6):807-10. doi: 10.1515/jpem.2001.14.6.807. J Pediatr Endocrinol Metab. 2001. PMID: 11453534
Acute hemorrhagic edema of infancy.
Poyrazoğlu HM, Per H, Gündüz Z, Düşünsel R, Arslan D, NarIn N, Gümüş H. Poyrazoğlu HM, et al. Among authors: gumus h. Pediatr Int. 2003 Dec;45(6):697-700. doi: 10.1111/j.1442-200x.2003.01796.x. Pediatr Int. 2003. PMID: 14651544
Joubert syndrome: review and report of seven new cases.
Kumandas S, Akcakus M, Coskun A, Gumus H. Kumandas S, et al. Among authors: gumus h. Eur J Neurol. 2004 Aug;11(8):505-10. doi: 10.1111/j.1468-1331.2004.00819.x. Eur J Neurol. 2004. PMID: 15272893
297 results