Ilgin-Ruhi H - Search Results

1

A novel Fryns "Anophthalmia-plus" syndrome associated with primary hypothyroidism.

Akalin I, Senses DA, Ilgin-Ruhi H, Misirlioğlu E, Yalçiner M, Cetinkaya E, Fryns JP, Tükün A. Akalin I, et al. Genet Couns. 2005;16(2):145-8. Genet Couns. 2005. PMID: 16080293

2

A Down syndrome case with a karyotype of 46,XY,rec(21)dup(21q)inv(21)(p11q22) derived from paternal pericentric inversion of chromosome 21.

Ilgin Ruhi H, Tükün A, Karabulut H, Bayazit P, Bökesoy I. Ilgin Ruhi H, et al. Clin Genet. 2001 May;59(5):368-70. doi: 10.1034/j.1399-0004.2001.590514.x. Clin Genet. 2001. PMID: 11359472 No abstract available.

3

The role of genetic counseling on decisions of pregnant women aged 35 years or over regarding amniocentesis in Turkey.

Ilgin-Ruhi H, Yürür-Kutlay N, Tükün A, Bökesoy I. Ilgin-Ruhi H, et al. Eur J Med Genet. 2005 Jan-Mar;48(1):13-9. doi: 10.1016/j.ejmg.2005.01.018. Epub 2005 Feb 1. Eur J Med Genet. 2005. PMID: 15953401

4

Identification of frequency and distribution of the nine most frequent mutations among patients with 21-hydroxylase deficiency in Turkey.

Sadeghi F, Yurur-Kutlay N, Berberoglu M, Cetinkaya E, Aycan Z, Kara C, Ilgin Ruhi H, Ocal G, Siklar Z, Elhan A, Tukun A. Sadeghi F, et al. J Pediatr Endocrinol Metab. 2008 Aug;21(8):781-7. doi: 10.1515/jpem.2008.21.8.781. J Pediatr Endocrinol Metab. 2008. PMID: 18825878

5

Molecular spectrum of PIK3CA gene mutations in patients with nonsmall-cell lung cancer in Turkey.

Ekinci S, Ilgin-Ruhi H, Dogan M, Gursoy S, Dizbay-Sak S, Demirkazik A, Tukun A. Ekinci S, et al. Genet Test Mol Biomarkers. 2015 Jul;19(7):353-8. doi: 10.1089/gtmb.2015.0060. Epub 2015 Jun 8. Genet Test Mol Biomarkers. 2015. PMID: 26053643

6

A novel TWIST1 gene mutation in a patient with Saethre-Chotzen syndrome.

Altiner Ş, Karabulut HG, Yararbaş K, Tükün A, Collet C, Kocaay P, Berberoğlu M, Ilgin Ruhi H. Altiner Ş, et al. Among authors: ilgin ruhi h. Clin Dysmorphol. 2017 Jul;26(3):175-178. doi: 10.1097/MCD.0000000000000162. Clin Dysmorphol. 2017. PMID: 27870659 No abstract available.

7

Association Between N363S and BclI Polymorphisms of the Glucocorticoid Receptor Gene (NR3C1) and Glucocorticoid Side Effects During Childhood Acute Lymphoblastic Leukemia Treatment.

Kaymak Cihan M, Karabulut HG, Yürür Kutlay N, Ilgın Ruhi H, Tükün A, Olcay L. Kaymak Cihan M, et al. Among authors: ilgin ruhi h. Turk J Haematol. 2017 Jun 5;34(2):151-158. doi: 10.4274/tjh.2016.0253. Epub 2017 Feb 9. Turk J Haematol. 2017. PMID: 28179212 Free PMC article.

8

Axenfeld-Rieger syndrome associated with truncus arteriosus: a case report.

Gürbüz-Köz O, Atalay T, Köz C, Ilgin-Ruhi H, Yarangümeli A, Kural G. Gürbüz-Köz O, et al. Turk J Pediatr. 2007 Oct-Dec;49(4):444-7. Turk J Pediatr. 2007. PMID: 18246752

9

Skin-Dominant Phenotype in a Patient with H Syndrome: Identification of a Novel Mutation in the SLC29A3 Gene.

Vural S, Ertop P, Durmaz CD, Şanlı H, Okçu Heper A, Kundakçı N, Karabulut HG, Ilgın Ruhi H. Vural S, et al. Among authors: ilgin ruhi h. Cytogenet Genome Res. 2017;151(4):186-190. doi: 10.1159/000475908. Epub 2017 May 30. Cytogenet Genome Res. 2017. PMID: 28554179

10

Bilateral choanal atresia in an adult woman with pycnodysostosis.

Durmaz CD, Taş V, Kocaay P, Fitöz ÖS, Onay H, Beton S, Özkınay F, Ilgın Ruhi H. Durmaz CD, et al. Among authors: ilgin ruhi h. Congenit Anom (Kyoto). 2017 May;57(3):91-92. doi: 10.1111/cga.12204. Congenit Anom (Kyoto). 2017. PMID: 27933642 No abstract available.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

18 results

Search Page

Filters