Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Ayça Kocaaga"'
Autor:
Ayça Kocaaga, Gunes Cakmak Genc, Sevim Karakas Celik, İbrahim E. Piskin, Mustafa Calik, Ahmet Dursun
Publikováno v:
Journal of Child Neurology. 38:38-43
Background: Subacute sclerosing panencephalitis is a progressive neurodegenerative disease that is a late complication of measles infection. However, to date, the pathogenesis of subacute sclerosing panencephalitis is still not explained; both viral
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::407aad79cddb4aa0971aaeb10e5d80aa
https://doi.org/10.1177/08830738221144081
https://doi.org/10.1177/08830738221144081
Autor:
Ayça, Kocaaga, Gunes, Cakmak Genc, Sevim, Karakas Celik, İbrahim E, Piskin, Mustafa, Calik, Ahmet, Dursun
Publikováno v:
Journal of child neurology.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e5ff1aadb9ba5c54b82ed895a8e89274
https://pubmed.ncbi.nlm.nih.gov/36544356
https://pubmed.ncbi.nlm.nih.gov/36544356
Autor:
Taner Karakaya, Ayca Kocaaga
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 24, Iss 1, Pp 1-7 (2023)
Abstract Background Early-onset breast cancer (EOBC) is a specific condition that affects women under the age of 45. BRCA pathogenic/likely pathogenic (P/LP) germline variants have been demonstrated to be harbored in a subgroup of EOBC individuals, a
Externí odkaz:
https://doaj.org/article/0a0057289aab40cab60e40a82378d5ef
Publikováno v:
The Egyptian Journal of Neurology, Psychiatry and Neurosurgery, Vol 59, Iss 1, Pp 1-6 (2023)
Abstract Background Wolfram syndrome is due to a mutation of the WFS1 gene that codes for the transmembrane protein wolframin. This protein is located in the endoplasmic reticulum and is expressed at higher concentrations in the beta cells of pancrea
Externí odkaz:
https://doaj.org/article/484b5aeee7fb45789317a32cb5760d27
Publikováno v:
Annals of Saudi Medicine, Vol 42, Iss 6, Pp 385-390 (2022)
BACKGROUND: Chromosomal abnormalities are more common in first trimester recurrent miscarriages (RM). Chromosomal anomalies affect approximately 2%-8% of couples with RM. OBJECTIVES: Evaluate the spectrum and the frequencies of chromosomal anomalies
Externí odkaz:
https://doaj.org/article/7cc1e22ecdf543c7b3fcaa607da2dd05
Publikováno v:
Pediatrics and Neonatology, Vol 63, Iss 6, Pp 613-617 (2022)
Background: Unlike in adults, there is no consensus on management and diagnosis of polycythemia in children. This study aims to evaluate the diagnosis and verify the algorithm in children with polycythemia. Methods: Seventy-nine children with polycyt
Externí odkaz:
https://doaj.org/article/06eebe63a20f4a7b8e2f9b69cedf0ffa
Autor:
Ayca Kocaaga, Mustafa Kocaaga
Publikováno v:
Global Medical Genetics, Vol 09, Iss 02, Pp 082-089 (2022)
Psoriasis is an erythematous-squamous dermatosis with a polygenic inheritance history. Both environmental and genetic factors play a role in the etiology of the disease. Over the past two decades, numerous linkage analyzes and genome-wide association
Externí odkaz:
https://doaj.org/article/d0270bc6b0824de59a9ce32ab40b6239
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 22, Iss 1, Pp 1-6 (2021)
Abstract Background Anorectal malformations (ARM) represent a wide spectrum of defects. Caudal and genitourinary malformations can associate with anorectal malformations. Genetic factors may play role in the development of anorectal malformations. Pe
Externí odkaz:
https://doaj.org/article/2743ddb97e114035a0ac85d8479d10d4
Autor:
Ayca Kocaaga, Sevgi Yimenicioglu
Publikováno v:
Global Medical Genetics, Vol 09, Iss 02, Pp 179-181 (2022)
The frequency of 18p deletion syndrome is estimated to be ∼1/50,000 live births and is more commonly associated with certain clinical features including short stature, intellectual disability, and facial dysmorphism. Physical examination of our pat
Externí odkaz:
https://doaj.org/article/f957e51911a942809aabbf0d1f7ae013
Publikováno v:
Indian Journal of Ophthalmology, Vol 70, Iss 7, Pp 2762-2764 (2022)
Bosch–Boonstra–Schaaf optic atrophy syndrome (BBSOAS) is an extremely rare autosomal dominant disorder characterized by intellectual disability, developmental delay, seizures, hypotonia, hearing loss, and optic nerve atrophy. This syndrome is cau
Externí odkaz:
https://doaj.org/article/de5e859287604940a38ef5b9d15d0eba