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European Journal of Medical Genetics|May 4, 2019
p.Ser348Cys mutation in FGFR3 gene leads to "Mild ACH /Severe HCH" phenotypeFuat Baris Bengur, Cumhur Gokhan Ekmekci, Ercan Karaarslan, et al.
The Turkish Journal of Pediatrics|June 17, 2017
Seizures and diagnostic difficulties in hyperinsulinism-hyperammonemia syndromeSibel Aka, Yasemin Alanay, Kara E Boodhansingh, et al.
Pediatric Radiology|May 23, 2006
Terminal phalangeal accessory ossification center of the thumb: an additional radiographic finding in Larsen syndromeYasemin Alanay, Gulen Eda Utine, Ralph S Lachman, et al.
The Turkish Journal of Pediatrics|October 11, 2011
Spondyloenchondrodysplasia: a rare cause of short statureGül Yeşiltepe-Mutlu, Elif Ozsu, Filiz Mine Cizmecioğlu, et al.
The Turkish Journal of Pediatrics|August 20, 2010
Cowden syndrome with bronchial asthmaYasemin Ozsürekci, Süleyman Tolga Yavuz, Yasemin Alanay, et al.
American Journal of Medical Genetics. Part A|August 7, 2013
Three patients resembling Teebi-Shaltout syndromeOzgur Aldemir, Samim Ozen, Sevcan Erdem, et al.
American Journal of Medical Genetics. Part A|May 16, 2012
Wiedemann-Rautenstrauch syndrome: report of a variant caseAslihan Kiraz, Samim Ozen, Filiz Tubas, et al.
The Turkish Journal of Pediatrics|May 16, 2014
A de novo 11q23 deletion in a patient presenting with severe ophthalmologic findings, psychomotor retardation and facial dysmorphismPelin Özlem Şimşek-Kiper, Yavuz Bayram, Gülen Eda Ütine, et al.
The Turkish Journal of Pediatrics|March 31, 2015
A case of fucosidosis type II: diagnosed with dysmorphological and radiological findingsEsra Kılıç, Mustafa Kılıç, G Eda Ütine, et al.
Turkish Archives of Pediatrics|March 17, 2025
Clinical and Molecular Analyses in 8 New Craniofrontonasal Syndrome Families: Revisiting the Mild End of the Phenotypic Spectrum in FemalesUmut Altunoglu, Birsen Karaman, Yasemin Alanay, et al.
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