Introduction Cri du chat syndrome is a rare genetic disorder due to deletion of variable length of short arm of chromosome 5(5p). It mainly presents with typical cat like cry, facial dysmorphism, poor growth with feeding problems and severe cognitive, speech, and motor delays. Case Report We present here a one year old child who did not presented with typical features but presented with recurre...

Background: Hypercoagulability and hypofibrinolysis are among the symptoms exhibited by diabetic patients. Our study aimed to address the polymorphic nature of Alu DNA fragment in the human tissue plasminogen activator gene within diabetes mellitus (DM) Jordanian patients. Methods: Genomic DNA was isolated from 76 DM patients and 60 non-diabetic Jordanian individuals, and the Alu fragment was a...

A particular, but important problem of freeing database memory in multi-access conditions is considered. number solutions to this are proposed and their advantages disadvantages noted. Three methods organizing work with free space The first method assumes two additional modes capturing pages: “Joint deletion” “deletion”. In the second method, pages after last tuple have been deleted inserted at...

In this paper, first we compute the energy of a special partitioned matrix under some cases. As consequence, obtain reciprocal distance complete multipartite graph and also give various other energies graphs. Next, show that among all [Formula: see text]-partite graphs on text] vertices, split has minimum is maximum for Turan text]. At last, it shown bipartite decreases deletion an edge if text...

Suppose we are given two identical copies of an unknown quantum state and we wish to delete one copy from among the given two copies. The quantum no-deletion principle restricts us from perfectly deleting a copy but it does not prohibit us from deleting a copy approximately. Here we construct two types of a “ universal quantum deletion machine” which approximately deletes a copy such that the f...

the aim of this paper is to propose some diagnostic methods in linear ridge measurement error models with stochastic linear restrictions using the corrected likelihood. based on the bias-corrected estimation of model parameters, diagnostic measures are developed to identify outlying and influential observations. in addition, we derive the corrected score test statistic for outliers detection ba...

Background: β-thalassemia is one of the most widespread disease in the world, including Iran. In this study, we reported, for the first time, A 290-bp β-globin gene deletion in the south of Iran. Methods: Four individuals from three unrelated families with Arabic ethnic background were studied in Khuzestan Province. Red blood cell indices and hemoglobin analysis were carried out accor...

     Familial adenomatous polyposis (FAP) is a hereditary autosomal dominant cancer syndrome, results from germ line mutation or deletion of the Adenomatous Polyposis Coli (APC) gene on chromosome 5q21. Patients with FAP suffer from multiple polyps mainly at the colorectal region as well as other parts of the gastrointestinal tract, which has propensity to transform into carcinoma. FAP has also...

This research aimed to explore the ACE (insertion/deletion) gene association as key factor for chronic obstructive pulmonary disease (COPD) development in north Indian population. A total of 200 clinically diagnosed patients with COPD were selected against 200 healthy individuals. Genetic variations of ACE (insertion/deletion) were evaluated by using polymerase chain reaction ...

ENWEndNote BIBJabRef, Mendeley RISPapers, Reference Manager, RefWorks, Zotero AMA Stefan M, Zapolnik P, Pyrkosz A. Deletion of the RNF6 gene in a patient with epileptic encephalopathy – case report and literature review. Pediatria Polska - Polish Journal Paediatrics. 2022:257-261. doi:10.5114/polp.2022.120119. APA Stefan, M., Zapolnik, P., & Pyrkosz, (2022). Paediatrics, 257-261. https://doi.or...