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Renpenning Syndrome in a Turkish Patient: de novo Variant c.607C>T in PACS1 and Hypogammaglobulinemia Phenotype.
Mol Syndromol. 2020 Jul;11(3):157-161. doi: 10.1159/000507562. Epub 2020 Apr 17.
Mol Syndromol. 2020.
PMID: 32903913
Free PMC article.
De novo interstitial deletion of 11q14.3q22 in a boy with mild intellectual disability and short stature.
Kurt Colak F, Eyerci N, Lafci NG.
Kurt Colak F, et al.
Clin Dysmorphol. 2022 Oct 1;31(4):174-180. doi: 10.1097/MCD.0000000000000429. Epub 2022 Jul 15.
Clin Dysmorphol. 2022.
PMID: 36005214
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A Glutamine Repeat Variant of the RUNX2 Gene Causes Cleidocranial Dysplasia.
Mastushita M, Kitoh H, Subasioglu A, Kurt Colak F, Dundar M, Mishima K, Nishida Y, Ishiguro N.
Mastushita M, et al. Among authors: kurt colak f.
Mol Syndromol. 2015 Feb;6(1):50-3. doi: 10.1159/000370337. Epub 2015 Jan 29.
Mol Syndromol. 2015.
PMID: 25852448
Free PMC article.
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Successful management of acute pancreatitis due to apolipoprotein C-II deficiency in a 37-day-old infant.
Yıldız Y, Uysal Yazıcı M, Çınar HG, Özbay Hoşnut F, Kurt Çolak F, Kılıç M.
Yıldız Y, et al. Among authors: kurt colak f.
Pancreatology. 2020 Jun;20(4):644-646. doi: 10.1016/j.pan.2020.03.008. Epub 2020 Mar 13.
Pancreatology. 2020.
PMID: 32205061
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Decreased calcium permeability caused by biallelic TRPV5 mutation leads to autosomal recessive renal calcium-wasting hypercalciuria.
Guleray Lafci N, van Goor M, Cetinkaya S, van der Wijst J, Acun M, Kurt Colak F, Cetinkaya A, Hoenderop J.
Guleray Lafci N, et al. Among authors: kurt colak f.
Eur J Hum Genet. 2024 Mar 25. doi: 10.1038/s41431-024-01589-9. Online ahead of print.
Eur J Hum Genet. 2024.
PMID: 38528055
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