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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2005 1
2007 3
2008 3
2009 1
2010 3
2011 1
2012 3
2013 3
2014 3
2015 1
2016 3
2017 2
2019 1
2020 4
2021 3
2022 3
2023 1
2024 1

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33 results

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Page 1
TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia.
Alanay Y, Ergüner B, Utine E, Haçariz O, Kiper PO, Taşkıran EZ, Perçin F, Uz E, Sağiroğlu MŞ, Yuksel B, Boduroglu K, Akarsu NA. Alanay Y, et al. Among authors: utine e. Am J Med Genet A. 2014 Feb;164A(2):291-304. doi: 10.1002/ajmg.a.36248. Epub 2013 Nov 5. Am J Med Genet A. 2014. PMID: 24194475 Review.
Homozygous Missense Epithelial Cell Adhesion Molecule Variant in a Patient with Congenital Tufting Enteropathy and Literature Review.
Güvenoğlu M, Şimşek-Kiper PÖ, Koşukcu C, Taskiran EZ, Saltık-Temizel İN, Gucer S, Utine E, Boduroğlu K. Güvenoğlu M, et al. Among authors: utine e. Pediatr Gastroenterol Hepatol Nutr. 2022 Nov;25(6):441-452. doi: 10.5223/pghn.2022.25.6.441. Epub 2022 Nov 2. Pediatr Gastroenterol Hepatol Nutr. 2022. PMID: 36451688 Free PMC article. Review.
A Turkish BCS1L mutation causes GRACILE-like disorder.
Serdaroğlu E, Takcı Ş, Kotarsky H, Çil O, Utine E, Yiğit Ş, Fellman V. Serdaroğlu E, et al. Among authors: utine e. Turk J Pediatr. 2016;58(6):658-661. doi: 10.24953/turkjped.2016.06.013. Turk J Pediatr. 2016. PMID: 29090881 Free article.
A rare cause of syndromic short stature: 3M syndrome in three families.
Isik E, Arican D, Atik T, Ooi JE, Darcan S, Ozen S, Simsek Kiper PO, Utine E, Cogulu O, Ozkinay F. Isik E, et al. Among authors: utine e. Am J Med Genet A. 2021 Feb;185(2):461-468. doi: 10.1002/ajmg.a.61989. Epub 2020 Nov 30. Am J Med Genet A. 2021. PMID: 33258289
Cerebro-facio-thoracic dysplasia: expanding the phenotype.
Cilliers D, Alanay Y, Boduroglu K, Utine E, Tunçbilek E, Clayton-Smith J. Cilliers D, et al. Among authors: utine e. Clin Dysmorphol. 2007 Apr;16(2):121-125. doi: 10.1097/MCD.0b013e328012e292. Clin Dysmorphol. 2007. PMID: 17351359
Café noir spots: a feature of familial progressive hyper- and hypopigmentation.
Gülseren D, Güleray N, Akgün-Doğan Ö, Şimşek-Kiper PÖ, Utine EG, Alikaşifoğlu M, Ersoy-Evans S. Gülseren D, et al. Among authors: utine eg. J Eur Acad Dermatol Venereol. 2020 Feb;34(2):e76-e77. doi: 10.1111/jdv.15968. Epub 2019 Oct 24. J Eur Acad Dermatol Venereol. 2020. PMID: 31571311 No abstract available.
33 results