Mıhçı E - Search Results

1

TCIRG1 and SNX10 gene mutations in the patients with autosomal recessive osteopetrosis.

Koçak G, Güzel BN, Mıhçı E, Küpesiz OA, Yalçın K, Manguoğlu AE. Koçak G, et al. Among authors: mihci e. Gene. 2019 Jun 20;702:83-88. doi: 10.1016/j.gene.2019.02.088. Epub 2019 Mar 19. Gene. 2019. PMID: 30898715

2

A patient with Down syndrome with a de novo derivative chromosome 21.

Cetin Z, Yakut S, Mihci E, Manguoglu AE, Berker S, Keser I, Luleci G. Cetin Z, et al. Among authors: mihci e. Gene. 2012 Oct 10;507(2):159-64. doi: 10.1016/j.gene.2012.07.018. Epub 2012 Jul 22. Gene. 2012. PMID: 22827956

3

A 5q12.1-5q12.3 microdeletion in a case with a balanced exceptional complex chromosomal rearrangement.

Cetin Z, Yakut S, Clark OA, Mihci E, Berker S, Luleci G. Cetin Z, et al. Among authors: mihci e. Gene. 2013 Mar 1;516(1):176-80. doi: 10.1016/j.gene.2012.12.013. Epub 2012 Dec 20. Gene. 2013. PMID: 23262338

4

Evaluation of exonic copy numbers of SMN1 and SMN2 genes in SMA.

Arikan Y, Berker Karauzum S, Uysal H, Mihci E, Nur B, Duman O, Haspolat S, Altiok Clark O, Toylu A. Arikan Y, et al. Among authors: mihci e. Gene. 2022 May 20;823:146322. doi: 10.1016/j.gene.2022.146322. Epub 2022 Feb 25. Gene. 2022. PMID: 35219815

5

Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis.

Frattini A, Pangrazio A, Susani L, Sobacchi C, Mirolo M, Abinun M, Andolina M, Flanagan A, Horwitz EM, Mihci E, Notarangelo LD, Ramenghi U, Teti A, Van Hove J, Vujic D, Young T, Albertini A, Orchard PJ, Vezzoni P, Villa A. Frattini A, et al. Among authors: mihci e. J Bone Miner Res. 2003 Oct;18(10):1740-7. doi: 10.1359/jbmr.2003.18.10.1740. J Bone Miner Res. 2003. PMID: 14584882 Free article.

6

Characterization of a novel Alu-Alu recombination-mediated genomic deletion in the TCIRG1 gene in five osteopetrotic patients.

Pangrazio A, Caldana ME, Sobacchi C, Panaroni C, Susani L, Mihci E, Cavaliere ML, Giliani S, Villa A, Frattini A. Pangrazio A, et al. Among authors: mihci e. J Bone Miner Res. 2009 Jan;24(1):162-7. doi: 10.1359/jbmr.080818. J Bone Miner Res. 2009. PMID: 18715141 Free article.

7

C.428_451 dup(24bp) mutation of the ARX gene detected in a Turkish family.

Arikan Y, Bilgen T, Koken R, Turan S, Mihci E, Keser I. Arikan Y, et al. Among authors: mihci e. Genet Couns. 2012;23(3):367-73. Genet Couns. 2012. PMID: 23072184

8

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

9

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.

10

MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss.

Bademci G, Abad C, Incesulu A, Rad A, Alper O, Kolb SM, Cengiz FB, Diaz-Horta O, Silan F, Mihci E, Ocak E, Najafi M, Maroofian R, Yilmaz E, Nur BG, Duman D, Guo S, Sant DW, Wang G, Monje PV, Haaf T, Blanton SH, Vona B, Walz K, Tekin M. Bademci G, et al. Among authors: mihci e. Hum Genet. 2018 Jul;137(6-7):479-486. doi: 10.1007/s00439-018-1901-4. Epub 2018 Jul 7. Hum Genet. 2018. PMID: 29982980 Free PMC article.

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