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Toplam kayıt 21, listelenen: 11-20
A Homozygous 1.16 Megabases Microdeletion at 8p22 including the Whole TUSC3 in A Three Years Old Girl with Intellectual Disability and Speech Delay
(Royan Institute (ACECR), 2020)
Intellectual disability (ID) is defined as an intelligence quotient (IQ) level below than 70. In the present paper, a 1.16 megabases (Mb) homozygous deletion in the 8p22 region was identified in a three years old girl with ...
Important milestones for cancer at the Nobel prize
(Wolters Kluwer Medknow Publications, 2020)
The Nobel Prize, which is awarded annually, is open to everyone, regardless of nationality, race, belief or ideology, and winners are announced in October. We evaluated the history of the Nobel prizes for awards that have ...
Clinical and exome sequencing findings in seven children with Bardet-Biedl syndrome from Turkey
(Wiley, 2020)
Background Bardet-Biedl syndrome (BBS) is a very-rare autosomal recessive genetic disorder with severe multisystem manifestations. Genetic testing plays an important role in the early diagnosis of the disease. In this ...
Risk Factors Influencing Tolerance and Clinical Features of Food Protein-induced Allergic Proctocolitis
(Lippincott Williams & Wilkins, 2020)
Objective: Continued progress in our understanding of the food protein-induced allergic proctocolitis (FPIAP) will provide the development of diagnostic tests and treatments. We aimed to identify precisely the clinical ...
Aleksitimi şizofrenide ayrı bir boyut mu?
(Cukurova University, Faculty of Medicine, 2020)
Objective: The aim of this research is to study the structural features of alexithymia dimension in patients diagnosed with schizophrenia, the relation between alexithymia, depression and negative symptoms, which overlap ...
The negative predictive value of 5-day drug provocation test in nonimmediate beta-lactam allergy in children
(Elsevier Science Inc, 2020)
Background
Extending the drug provocation test (DPT) period is recommended for patients with suspected nonimmediate beta-lactam antibiotic (BLA) allergy and negative DPT. No consensus has been reached regarding the duration ...
Potential Anti-Tumor Activity of Kefir-Induced Juglone and Resveratrol Fractions Against Ehrlich Ascites Carcinoma-Bearing BALB/C Mice
(PMC, 2020)
We investigated the potential influence of kefir-induced juglone and resveratrol fractions (JRK) against Ehrlich Ascites Carcinoma (EAC) bearing BALB/c male mice. Kefir yeast was grown in the cell culture supplemented with ...
Left ventricular dysfunction associated with axitinib and nivolumab experience in an advanced renal cell carcinoma
(Sage Publications Ltd, 2020)
Introduction Tyrosine kinase inhibitors and immune checkpoint inhibitors are widely used in advanced renal cell carcinoma. Here we reported a left ventricular dysfunction associated with axitinib and nivolumab experience ...
Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability
(BMJ Publishing Group, 2020)
Background: Intellectual disability syndromes (IDSs) with or without developmental delays affect up to 3% of the world population. We sought to clinically and genetically characterise a novel IDS segregating in five unrelated ...
Isotretinoin-induced pruritic erythematous lesions and acute chest pain in a 15-year-old girl
(W B Saunders Co-Elsevier Inc, 2020)
Isotretinoin is widely used in the treatment of acne vulgaris for more than 30 years (1). In addition to its systemic side effects, isotretinoin may also cause mucocutaneous side effects including cheilitis, nasal hemorrhage, ...