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3 research outputs found
A novel nonsense variant in COL1A1 gene in a family with clinical symptoms of osteogenesis imperfecta
Author
Dirican Özlem
DÜNDAR MUNİS
Kandemir Nefise
Kazımlı Ulviyya
Publication venue
'Elsevier BV'
Publication date
15/11/2019
Field of study
No full text
Erciyes University - AVESIS
A novel variant in the EFTUD2 gene is associated with mandibulofacial dysostosis with microcephaly in a Turkish patient and her mother
Author
Akyürek Esra
CANPOLAT MEHMET
+5 more
DOĞAN MUHAMMET ENSAR
DÜNDAR MUNİS
Kazımlı Ulviyya
KIRANATLIOĞLU KÜBRA
ÖZKUL YUSUF
Publication venue
Publication date
06/11/2020
Field of study
No full text
Erciyes University - AVESIS
A novel EDAR gene variant causing autosomal dominant hypohidrotic ectodermal dysplasia
Author
Akkuş Mustafa
BAYSAL KÜBRA
+6 more
Boyyadoğlu Çağdaş
COŞKUN NURİYE
DOĞAN MUHAMMET ENSAR
DÜNDAR MUNİS
KARTAL DEMET
Kazımlı Ulviyya
Publication venue
Publication date
11/06/2020
Field of study
No full text
Erciyes University - AVESIS