[PDF][PDF] MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes
Distinctive facial features consisting of hypertelorism, telecanthus, blepharophimosis,
blepharoptosis, epicanthus inversus, periumbilical defects, and skeletal anomalies are seen in …
blepharoptosis, epicanthus inversus, periumbilical defects, and skeletal anomalies are seen in …
Effects of l-carnitine infusions on inflammatory and nutritional markers in haemodialysis patients
M Duranay, H Akay, FM Yilmaz, M Şeneş… - Nephrology Dialysis …, 2006 - academic.oup.com
Background. Carnitine loss through dialysis membranes is shown to be related to the lack of
carnitine in long-term haemodialysis patients. It has been previously reported that …
carnitine in long-term haemodialysis patients. It has been previously reported that …
[PDF][PDF] GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome
Autosomal-recessive inheritance, severe to profound sensorineural hearing loss, and partial
agenesis of the corpus callosum are hallmarks of the clinically well-established Chudley-…
agenesis of the corpus callosum are hallmarks of the clinically well-established Chudley-…
The relationship between bifidobacteria and allergic asthma and/or allergic dermatitis: A prospective study of 0–3 years-old children in Turkey
Bifidobacteria are beneficial bacteria for humans. These bacteria are particularly effective at
protecting against infectious diseases and modulating the immune response. It was shown …
protecting against infectious diseases and modulating the immune response. It was shown …
[HTML][HTML] The evaluation of endothelial function with flow-mediated dilatation and carotid intima media thickness in young nonobese polycystic ovary syndrom patients; …
S Arikan, H Akay, M Bahceci, A Tuzcu, D Gokalp - Fertility and sterility, 2009 - Elsevier
OBJECTIVE: To evaluate endothelial function with flow-mediated dilatation (FMD) and
carotid intima media thickness (IMT) in young nonobese polycystic ovary syndrome (PCOS) …
carotid intima media thickness (IMT) in young nonobese polycystic ovary syndrome (PCOS) …
The frequency of intracranial arterial fenestrations: a study with 64-detector CT-angiography
AH Bayrak, S Senturk, HO Akay, CA Ozmen… - European journal of …, 2011 - Elsevier
Fenestration is a vascular variation that begins with a common origin, then splits into two
parallel luminal channels and rejoins distally. Potential association between anomalies of …
parallel luminal channels and rejoins distally. Potential association between anomalies of …
64-MDCT pulmonary angiography and CT venography in the diagnosis of thromboembolic disease
H Nazaroğlu, CA Özmen, HO Akay… - American Journal of …, 2009 - Am Roentgen Ray Soc
OBJECTIVE. The purpose of our study was to investigate whether CT venography (CTV)
performed after CT pulmonary angiography (CTPA) using 64-MDCT provides additional …
performed after CT pulmonary angiography (CTPA) using 64-MDCT provides additional …
[HTML][HTML] Challenges in whole exome sequencing: an example from hereditary deafness
Whole exome sequencing provides unprecedented opportunities to identify causative DNA
variants in rare Mendelian disorders. Finding the responsible mutation via traditional …
variants in rare Mendelian disorders. Finding the responsible mutation via traditional …
Clinical and cranial magnetic resonance imaging (MRI) findings of 21 patients with serious hyperbilirubinemia
S Katar, HO Akay, M Taskesen… - Journal of child …, 2008 - journals.sagepub.com
This study aims to compare neurological examination and cranial magnetic resonance
imaging (MRI) findings in patients with serious hyperbilirubinemia. Twenty-one serious …
imaging (MRI) findings in patients with serious hyperbilirubinemia. Twenty-one serious …
[HTML][HTML] Comparison of risk factors for cardiovascular disease in hemodialysis and peritoneal dialysis patients
O Harmankaya, N Akalin, H Akay, Y Okuturlar, K Erturk… - Clinics, 2015 - SciELO Brasil
OBJECTIVE: In this study, we aimed to compare the cardiovascular risk factors that might be
associated with inflammation, atherosclerosis and metabolic syndrome between …
associated with inflammation, atherosclerosis and metabolic syndrome between …