Mihci E - Search Results

1

SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects.

Dubail J, Huber C, Chantepie S, Sonntag S, Tüysüz B, Mihci E, Gordon CT, Steichen-Gersdorf E, Amiel J, Nur B, Stolte-Dijkstra I, van Eerde AM, van Gassen KL, Breugem CC, Stegmann A, Lekszas C, Maroofian R, Karimiani EG, Bruneel A, Seta N, Munnich A, Papy-Garcia D, De La Dure-Molla M, Cormier-Daire V. Dubail J, et al. Among authors: mihci e. Nat Commun. 2018 Aug 6;9(1):3087. doi: 10.1038/s41467-018-05191-8. Nat Commun. 2018. PMID: 30082715 Free PMC article.

2

Possible autosomal recessive inheritance in an infant with acrofacial dysostosis similar to Nager syndrome.

Nur BG, Bernier FP, Oztekin O, Kardelen F, Kalay S, Parboosingh JS, Mihci E. Nur BG, et al. Among authors: mihci e. Am J Med Genet A. 2013 Sep;161A(9):2311-5. doi: 10.1002/ajmg.a.36051. Epub 2013 Aug 2. Am J Med Genet A. 2013. PMID: 23913624

3

The association of Klinefelter syndrome and multiple pterygium syndrome: an unusual presentation.

Nur BG, Altıok-Clark O, Toylu A, Lüleci G, Mıhçı E. Nur BG, et al. Among authors: mihci e. Turk J Pediatr. 2013 Sep-Oct;55(5):559-63. Turk J Pediatr. 2013. PMID: 24382544

4

Clinicogenetic study of Turkish patients with syndromic craniosynostosis and literature review.

Nur BG, Pehlivanoğlu S, Mıhçı E, Calışkan M, Demir D, Alper OM, Kayserili H, Lüleci G. Nur BG, et al. Among authors: mihci e. Pediatr Neurol. 2014 May;50(5):482-90. doi: 10.1016/j.pediatrneurol.2014.01.023. Epub 2014 Jan 11. Pediatr Neurol. 2014. PMID: 24656465 Review.

5

Chanarin-Dorfman syndrome: Genotype-Phenotype Correlation.

Nur BG, Gencpinar P, Yuzbasıoglu A, Emre SD, Mihci E. Nur BG, et al. Among authors: mihci e. Eur J Med Genet. 2015 Apr;58(4):238-42. doi: 10.1016/j.ejmg.2015.01.011. Epub 2015 Feb 14. Eur J Med Genet. 2015. PMID: 25682902

6

A novel mutation in RNU4ATAC in a patient with microcephalic osteodysplastic primordial dwarfism type I.

Kilic E, Yigit G, Utine GE, Wollnik B, Mihci E, Nur BG, Boduroglu K. Kilic E, et al. Among authors: mihci e. Am J Med Genet A. 2015 Apr;167A(4):919-21. doi: 10.1002/ajmg.a.36955. Epub 2015 Mar 3. Am J Med Genet A. 2015. PMID: 25735804 No abstract available.

7

Neonatal multiple sulfatase deficiency with a novel mutation and review of the literature.

Nur BG, Mıhçı E, Pepe S, Biberoğlu G, Ezgü FS, Ballabio A, Öztekin O, Dursun O. Nur BG, et al. Among authors: mihci e. Turk J Pediatr. 2014 Jul-Aug;56(4):418-22. Turk J Pediatr. 2014. PMID: 25818962 Review.

8

Comprehensive dental management in a Hallermann-Streiff syndrome patient with unusual radiographic appearance of teeth.

Gungor OE, Nur BG, Yalcin H, Karayilmaz H, Mihci E. Gungor OE, et al. Among authors: mihci e. Niger J Clin Pract. 2015 Jul-Aug;18(4):559-62. doi: 10.4103/1119-3077.156910. Niger J Clin Pract. 2015. PMID: 25966733

9

Bilateral congenital cataracts in an infant with Klinefelter syndrome.

Nur BG, Altıok-Clark Ö, İlhan HD, Sayar E, Yücel İ, Mıhçı E. Nur BG, et al. Among authors: mihci e. Turk J Pediatr. 2014 Sep-Oct;56(5):546-50. Turk J Pediatr. 2014. PMID: 26022594

10

Perinatal Diagnostic Approach to Fetal Skeletal Dysplasias: Six Years Experience of a Tertiary Center.

Toru HS, Nur BG, Sanhal CY, Mihci E, Mendilcioğlu İ, Yilmaz E, Yilmaz GT, Ozbudak IH, Karaali K, Alper OM, Karaveli FŞ. Toru HS, et al. Among authors: mihci e. Fetal Pediatr Pathol. 2015;34(5):287-306. doi: 10.3109/15513815.2015.1068414. Epub 2015 Aug 20. Fetal Pediatr Pathol. 2015. PMID: 26376227

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