Zobrazeno 1 - 10
of 31
pro vyhledávání: '"Kenan Delil"'
Publikováno v:
JCRPE, Vol 13, Iss 1, Pp 100-103 (2021)
Insulin receptor (INSR) mutations lead to heterogeneous disorders that may be as severe as Donohue syndrome or as mild as “type A insulin resistance syndrome”. Patients with severe disorders usually harbor homozygous or compound heterozygous muta
Externí odkaz:
https://doaj.org/article/66f7a8d612e441dc9a39095dbc869196
Publikováno v:
Heart Views, Vol 15, Iss 1, Pp 22-25 (2014)
In acute myocarditis, thrombus formation is an important prognostic factor. Early diagnosis and treatment of intracardiac thrombus is critical, especially when there are multiple thrombi. When a patient presents with multiple cardiac thrombi not only
Externí odkaz:
https://doaj.org/article/9fe22d394d1240999e40c018e151dac1
Publikováno v:
JCRPE, Vol 13, Iss 1, Pp 100-103 (2021)
Journal of Clinical Research in Pediatric Endocrinology
Journal of Clinical Research in Pediatric Endocrinology
Insulin receptor (INSR) mutations lead to heterogeneous disorders that may be as severe as Donohue syndrome or as mild as “type A insulin resistance syndrome”. Patients with severe disorders usually harbor homozygous or compound heterozygous muta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09edd61e5239656e3f6ef8fce278d8ca
https://doi.org/10.4274/jcrpe.galenos.2020.2019.0213
https://doi.org/10.4274/jcrpe.galenos.2020.2019.0213
Autor:
Ceren Alavanda, Bilgen Bilge Geçkinli, Ayberk Turkyilmaz, Pinar Ata, Esra Arslan Ates, Ahmet Arman, Kenan Delil, Mehmet Ali Söylemez
Publikováno v:
Molecular Syndromology. 12:179-185
Polycystic kidney disease (PKD) is a life-threatening condition resulting in end-stage renal disease. Two major forms of PKD are defined according to the inheritance pattern. Autosomal dominant PKD (ADPKD) is characterized by renal cysts, where nearl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f9e4f7b2687d7978de4fae1fe2af2212
https://doi.org/10.1159/000513611
https://doi.org/10.1159/000513611
Autor:
Zerrin Ozgen, Ekim Can Ozturk, Pinar Ata, Kardelen Gencer-Atalay, Ilker Yagci, Gulseren Akyuz, Kenan Delil
Publikováno v:
Rheumatology international. 39(3)
Fibrodysplasia ossificans progressiva (FOP), is a rare autosomal dominant connective tissue disease with a prevalence of 1 in 2 million. It is characterized by congenital foot deformities and multiple heterotopic ossifications in fibrous tissue. It u
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cdc410624e813207ffc9c5438b681363
https://pubmed.ncbi.nlm.nih.gov/30343406
https://pubmed.ncbi.nlm.nih.gov/30343406
Autor:
Ajlan Tükün, Bülent Hacıhamdioğlu, Kenan Delil, Merih Berberoğlu, Halil Gürhan Karabulut, Zeynep Şıklar, Hatice Ilgın Ruhi, Gönül Öcal
Publikováno v:
Journal of Clinical Research in Pediatric Endocrinology
Objective The frequency of mutations in the short stature homeobox (SHOX) gene in patients with idiopathic short stature (ISS) ranges widely, depending mostly on the mutation detection technique and inclusion criteria. We present phenotypic and genot
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::677db235d37044aaa9b8e863afbd0f96
https://hdl.handle.net/11424/241240
https://hdl.handle.net/11424/241240
Publikováno v:
The Turkish Journal of Pediatrics. 59:404
Subaşı B, Gökçe İ, Delil K, Alpay H. Vitamin D receptor gene polymorphisms in children with kidney stone disease. Turk J Pediatr 2017; 59: 404-409. Kidney stone disease has a multifactorial etiology involving the interaction of genetic and envir
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::309193cc9ae5955808b865f9f70ed197
https://doi.org/10.24953/turkjped.2017.04.006
https://doi.org/10.24953/turkjped.2017.04.006
Autor:
Ahmet Ozen, Elif Karakoc-Aydiner, Ibrahim Baris, Ismail Ogulur, Safa Baris, Isil Barlan, Ayca Kiykim, Kenan Delil
Publikováno v:
Journal of clinical immunology. 35(4)
Recently autosomal recessively inherited mutations in the gene encoding Jagunal homolog 1 (JAGN1) was described as a novel disease-causing gene of severe congenital neutropenia (SCN) JAGN1-mutant neutrophils were characterized by abnormality in endop
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5905360f4e3d95ecffa8ec3f5a58684
https://pubmed.ncbi.nlm.nih.gov/25851723
https://pubmed.ncbi.nlm.nih.gov/25851723
Publikováno v:
Postępy w Kardiologii Interwencyjnej = Advances in Interventional Cardiology
ST elevation acute myocardial infarction in patients with a mechanical prosthetic valve is rare and usually due to inadequate anticoagulation. We present a case of acute inferior myocardial infarction in a patient with a prosthetic aortic valve and h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3af77a7f2cc5b439e6977d9e6945e0a5
https://hdl.handle.net/11424/245559
https://hdl.handle.net/11424/245559
Publikováno v:
Anatolian Journal of Cardiology
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c67141dd46dcc4d1cf30075da4089e3
http://europepmc.org/articles/PMC5336904
http://europepmc.org/articles/PMC5336904