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Fetal and Pediatric Pathology|July 16, 2019
Atypical Presentation of Sengers Syndrome: A Novel Mutation Revealed with Postmortem Genetic TestingNaz Guleray, Can Kosukcu, Zihni Ekim Taskiran, et al.
Clinical Dysmorphology|August 23, 2016
A probable new syndrome with the storage disease phenotype caused by the VPS33A gene mutationAli Dursun, Dilek Yalnizoglu, Omer F Gerdan, et al.
Experimental Biology and Medicine (Maywood, N.J.)|September 16, 2008
Expression of ASC in renal tissues of familial mediterranean fever patients with amyloidosis: postulating a role for ASC in AA type amyloid depositionBanu Balci-Peynircioglu, Andrea L Waite, Philip Schaner, et al.
Pathology, Research and Practice|May 8, 2024
AP-1-dependent fibrosis: Exploring its potential role in the pathogenesis of placental transmogrification of the lung (PTL) via tissue-level transcriptome analysisBeren Karaosmanoglu, Gozde Imren, Meral Uner, et al.
Journal of the American Society of Nephrology : JASN|March 11, 2014
Mutations in ANKS6 cause a nephronophthisis-like phenotype with ESRDEkim Z Taskiran, Emine Korkmaz, Safak Gucer, et al.
American Journal of Human Genetics|May 11, 2010
Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasiaElif Uz, Yasemin Alanay, Dilek Aktas, et al.
World Journal of Pediatrics : WJP|November 23, 2011
Solid tumors in Turkish children: a multicenter studyAyper Kacar, Irem Paker, Zuhal Akcoren, et al.
Journal of the American Society of Nephrology : JASN|May 14, 2015
ADCK4-Associated Glomerulopathy Causes Adolescence-Onset FSGSEmine Korkmaz, Beata S Lipska-Ziętkiewicz, Olivia Boyer, et al.
American Journal of Human Genetics|June 4, 2016
Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain DeficiencyRikke K J Olsen, Eliška Koňaříková, Teresa A Giancaspero, et al.
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