Zobrazeno 1 - 4
of 4
pro vyhledávání: '"İdil Aslan"'
Autor:
Duygu Duman, Suna Tokgoz-Yilmaz, Hatice Ozturkmen-Akay, Seda Taşır-Yılmaz, Fazilet Altın, Asli Sirmaci, Hilal Özdağ, E. Berrin Yüksel-Konuk, Ismail Yilmaz, Müzeyyen Yıldırım, Suat Fitoz, Seyra Erbek, Burcu Öztürk-Hişmi, Mustafa Tekin, Abdullah Ayçiçek, Aylin Hasanefendioğlu-Bayrak, İdil Aslan, Filiz Basak Cengiz, Armagan Incesulu, Z. Serap Arıcı
Publikováno v:
International Journal of Pediatric Otorhinolaryngology. 73:699-705
Genome wide homozygosity mapping using Affymetrix 10K arrays revealed the DFNB7/11 locus including the TMC1 gene in 5 of 35 Turkish families with autosomal recessive nonsyndromic severe to profound congenital or prelingual-onset sensorineural hearing
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2ee423f7bef9d0fea920aca5731be00
https://doi.org/10.1016/j.ijporl.2009.01.005
https://doi.org/10.1016/j.ijporl.2009.01.005
Direct evidence of the critical physiological role of connexins (Cxs) has come through the associations of several human diseases with pathogenic mutations in specific Cx genes. Currently, mutations in genes coding for five Cx proteins (Cx26, Cx30, C
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47cc9c8ac9d304a952eae3ac575cac59
https://europepmc.org/articles/PMC3085143/
https://europepmc.org/articles/PMC3085143/
Autor:
İdil Aslan, Berrin Yüksel-Konuk, Mustafa Özdemir, Mustafa Tekin, Yurdanur Erdoğan, Ülkü Yılmaz-Turay, Asli Sirmaci, Gülen Ece Ayten
Publikováno v:
Rheumatology international. 30(1)
Mutations in HPGD have recently been reported to cause primary hypertrophic osteoarthropathy (PHO), a rare genetic disease characterized by digital clubbing, pachydermia, and periostosis. We screened HPGD mutations in six patients from three unrelate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1abad594acf71071b51095a3ada69a73
https://pubmed.ncbi.nlm.nih.gov/19306095
https://pubmed.ncbi.nlm.nih.gov/19306095
Autor:
Öztan Yasun, E. Berrin Yüksel-Konuk, Suat Fitoz, Hilal Özdağ, Asli Sirmaci, Nejat Akar, Seda Taşır Yılmaz, Bora İnceoğlu, İdil Aslan, Filiz Basak Cengiz, Mustafa Tekin, Burcu Ozturk Hismi
We identified nine individuals from three unrelated Turkish families with a unique autosomal recessive syndrome characterized by type I microtia, microdontia, and profound congenital deafness associated with a complete absence of inner ear structures
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::befa7e0aeb93575d25e75e787adeef44
https://avesis.gazi.edu.tr/publication/details/e893510d-d872-43ec-82e2-21b0db731bf8/oai
https://avesis.gazi.edu.tr/publication/details/e893510d-d872-43ec-82e2-21b0db731bf8/oai