Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Ekim, Taşkıran"'
Autor:
Pelin Ozlem Simsek‐Kiper, Prince Jacob, Priyanka Upadhyai, Zihni Ekim Taşkıran, Vishal S. Guleria, Beren Karaosmanoglu, Gozde Imren, Rahsan Gocmen, Gandham S. Bhavani, Neethukrishna Kausthubham, Hitesh Shah, Gulen Eda Utine, Koray Boduroglu, Katta M. Girisha
Publikováno v:
Human mutationREFERENCES. 43(12)
Spondylo-epi-metaphyseal dysplasias with joint laxity, type 3 (SEMDJL3) is a genetic skeletal disorder characterized by multiple joint dislocations, caused by biallelic pathogenic variants in the EXOC6B gene. Only four individuals from two families h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11d278ee2aabaf5737d472f7a392903f
https://pubmed.ncbi.nlm.nih.gov/36150098
https://pubmed.ncbi.nlm.nih.gov/36150098
Publikováno v:
Mol Syndromol
Introduction: 3M syndrome is an autosomal recessive disorder characterized by characteristic facial features, severe pre- and postnatal growth restriction (CUL7), obscurin-like 1 (OBSL1), and coiled coil domain containing protein 8 (CCDC8). Case pres
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9378d1970e0a8823da5ac1205bf51309
https://europepmc.org/articles/PMC9843558/
https://europepmc.org/articles/PMC9843558/
Autor:
Abdulkerim Kolkıran, Beren Karaosmanoğlu, Zihni Ekim Taşkıran, Pelin Özlem Şimşek Kiper, Gülen Eda Utine
Publikováno v:
The Turkish Journal of Pediatrics. 63:1091
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2c9270370e123422c78d9648e90a996b
https://doi.org/10.24953/turkjped.2021.06.019
https://doi.org/10.24953/turkjped.2021.06.019
Frequency of mutations in PROP-1 gene in Turkish children with combined pituitary hormone deficiency
Autor:
Nurgün, Kandemir, Doğuş, Vurallı, Ekim, Taşkıran, Nazlı, Gönç, Alev, Özön, Ayfer, Alikaşifoğlu, Engin, Yılmaz
Publikováno v:
The Turkish journal of pediatrics. 54(6)
Mutations in the prophet of Pit-1 (PROP-1) gene are responsible for most of the cases of combined pituitary hormone deficiencies (CPHD). We performed this study to determine the prevalence of PROP-1 mutations in a group of Turkish children with CPHD.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::761d67cd38dc19875dddfe566b57dae8
https://pubmed.ncbi.nlm.nih.gov/23692781
https://pubmed.ncbi.nlm.nih.gov/23692781
Autor:
Dökmeci-Emre, Serap, Ekim Taşkıran, Zihni, Yüzbaşıoğlu, Ayşe, Önal, Gizem, Nurten Akarsu, Ayşe, Karaduman, Ayşen, Özgüç, Meral
Publikováno v:
Turkish Journal of Pediatrics; 2017, Vol. 59 Issue 4, p475-482, 8p, 3 Diagrams, 2 Charts, 1 Graph