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Author/Creator Karaosmanoglu, Beren

1. Biallelic ITGB4 variants in familial pyloric atresia without epidermolysis bullosa: Report of two families with five siblings. Issue 11 (17th August 2021)

Authors:
Soyer, Tutku; Karaosmanoglu, Beren; Taskiran, Ekim Z.; Kiper, Pelin Özlem Şimşek; Karnak, İbrahim; Boduroğlu, Koray; Utine, Gülen Eda
Other Names:
Rasmussen Sonja A. guestEditor.; Hamosh Ada guestEditor.
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 11(2021)
Page Start:
3427
Record Type:
Journal Article
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2. Biallelic loss‐of‐function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo‐epi‐metaphyseal dysplasia with joint laxity type 3. Issue 12 (8th October 2022)

Authors:
Simsek‐Kiper, Pelin Ozlem; Jacob, Prince; Upadhyai, Priyanka; Taşkıran, Zihni Ekim; Guleria, Vishal S.; Karaosmanoglu, Beren; Imren, Gozde; Gocmen, Rahsan; Bhavani, Gandham S.; Kausthubham, Neethukrishna; Shah, Hitesh; Utine, Gulen Eda; Boduroglu, Koray; Girisha, Katta M.
Journal:
Human mutation
Issue:
Volume 43:Issue 12(2022)
Page Start:
2116
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. Homozygous indel mutation in CDH11 as the probable cause of Elsahy–Waters syndrome. Issue 12 (8th October 2017)

Authors:
Taskiran, Ekim Z.; Karaosmanoglu, Beren; Koşukcu, Can; Doğan, Özlem A.; Taylan‐Şekeroğlu, Hande; Şimşek‐Kiper, Pelin Ö.; Utine, Eda G.; Boduroğlu, Koray; Alikaşifoğlu, Mehmet
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 12(2017)
Page Start:
3143
Record Type:
Journal Article
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4. Novel insights into diabetes mellitus due to DNAJC3‐defect: Evolution of neurological and endocrine phenotype in the pediatric age group. Issue 7 (10th September 2020)

Authors:
Ozon, Z. Alev; Alikasifoglu, Ayfer; Kandemir, Nurgun; Aydin, Busra; Gonc, E. Nazli; Karaosmanoglu, Beren; Celik, Nur Berna; Eroglu‐Ertugrul, Nesibe G.; Taskiran, Ekim Z.; Haliloglu, Goknur; Oguz, Kader Karli; Kiper, Pelin Ozlem; Yalnizoglu, Dilek; Utine, Gulen Eda; Alikasifoglu, Mehmet
Journal:
Pediatric diabetes
Issue:
Volume 21:Issue 7(2020)
Page Start:
1176
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗