Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Melike Ataseven Kulali"'
Publikováno v:
Archives of Endocrinology and Metabolism, Vol 68 (2024)
SUMMARY Mutations in the insulin receptor (INSR) gene may present with variable clinical phenotypes. We report herein a novel heterozygous INSR mutation in an adolescent girl with type A insulin resistance syndrome and her mother. The index case was
Externí odkaz:
https://doaj.org/article/05c860892ec34e3ea87e3fbcc154cf98
Autor:
Dilek Çavusoglu, Melike Ataseven Kulali, Nihal Olgaç Dündar, Cigdem Ozer Gokaslan, Kurşad Aydin
Publikováno v:
Annals of Indian Academy of Neurology, Vol 25, Iss 1, Pp 133-134 (2022)
Externí odkaz:
https://doaj.org/article/6843db3b655645deb69a2a198e568b32
Autor:
Köksal Alptekin, Nese Direk, Fatih Ozel, Melike Ataseven Kulali, Emel Ada, Ozlem Giray Bozkaya
Publikováno v:
Psychiatric Genetics. 29:57-60
Schizophrenia is a genetically complex disease that is related to neurodevelopmental abnormalities. Several genetic polymorphisms and genetic syndromes associated with neurodevelopmental processes have been linked to schizophrenia. In this case repor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf34ffb34505d0486fa8dafa7e0185b7
https://doi.org/10.1097/ypg.0000000000000214
https://doi.org/10.1097/ypg.0000000000000214
Autor:
Tarık Kırkgöz, Behzat Özkan, Filiz Hazan, Sezer Acar, Özlem Nalbantoğlu, Beyhan Özkaya, Melike Ataseven Kulalı, Semra Gürsoy, Shiro Ikegawa, Long Guo
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Dysosteosclerosis (DOS) is a rare sclerosing bone dysplasia characterized by unique osteosclerosis of the long tubular bones and platyspondyly. DOS is inherited in an autosomal recessive manner and is genetically and clinically heterogeneous. To date
Externí odkaz:
https://doaj.org/article/0245d8bf11ee40359cfeddf29d7e2cb4