Search results for: Uzicanin Sajra

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Sajra</title> <meta name="description" content="Search results for: Uzicanin Sajra"> <meta name="keywords" content="Uzicanin Sajra"> <meta name="viewport" content="width=device-width, initial-scale=1, minimum-scale=1, maximum-scale=1, user-scalable=no"> <meta charset="utf-8"> <link href="https://cdn.waset.org/favicon.ico" type="image/x-icon" rel="shortcut icon"> <link href="https://cdn.waset.org/static/plugins/bootstrap-4.2.1/css/bootstrap.min.css" rel="stylesheet"> <link href="https://cdn.waset.org/static/plugins/fontawesome/css/all.min.css" rel="stylesheet"> <link href="https://cdn.waset.org/static/css/site.css?v=150220211555" rel="stylesheet"> </head> <body> <header> <div class="container"> <nav class="navbar navbar-expand-lg navbar-light"> <a class="navbar-brand" href="https://waset.org"> <img src="https://cdn.waset.org/static/images/wasetc.png" alt="Open Science Research Excellence" title="Open Science Research Excellence" /> </a> <button class="d-block d-lg-none navbar-toggler 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id="custom-search-input"> <div class="input-group"> <i class="fas fa-search"></i> <input type="text" class="search-query" name="q" placeholder="Author, Title, Abstract, Keywords" value="Uzicanin Sajra"> <input type="submit" class="btn_search" value="Search"> </div> </div> </form> </div> </div> <div class="row mt-3"> <div class="col-sm-3"> <div class="card"> <div class="card-body"><strong>Commenced</strong> in January 2007</div> </div> </div> <div class="col-sm-3"> <div class="card"> <div class="card-body"><strong>Frequency:</strong> Monthly</div> </div> </div> <div class="col-sm-3"> <div class="card"> <div class="card-body"><strong>Edition:</strong> International</div> </div> </div> <div class="col-sm-3"> <div class="card"> <div class="card-body"><strong>Paper Count:</strong> 1</div> </div> </div> </div> <h1 class="mt-3 mb-3 text-center" style="font-size:1.6rem;">Search results for: Uzicanin Sajra</h1> <div class="card paper-listing mb-3 mt-3"> <h5 class="card-header" style="font-size:.9rem"><span class="badge badge-info">1</span> Joubert Syndrome in Children as Multicentric Screening in Ten Different Places in World</h5> <div class="card-body"> <p class="card-text"><strong>Authors:</strong> <a href="https://publications.waset.org/abstracts/search?q=Bajraktarevic%20Adnan">Bajraktarevic Adnan</a>, <a href="https://publications.waset.org/abstracts/search?q=Djukic%20Branka"> Djukic Branka</a>, <a href="https://publications.waset.org/abstracts/search?q=Sporisevic%20Lutvo"> Sporisevic Lutvo</a>, <a href="https://publications.waset.org/abstracts/search?q=Krdzalic%20Zecevic%20Belma"> Krdzalic Zecevic Belma</a>, <a href="https://publications.waset.org/abstracts/search?q=Uzicanin%20Sajra"> Uzicanin Sajra</a>, <a href="https://publications.waset.org/abstracts/search?q=Hadzimuratovic%20Admir"> Hadzimuratovic Admir</a>, <a href="https://publications.waset.org/abstracts/search?q=Hadzimuratovic%20Hadzipasic%20Emina"> Hadzimuratovic Hadzipasic Emina</a>, <a href="https://publications.waset.org/abstracts/search?q=Abduzaimovic%20Alisa"> Abduzaimovic Alisa</a>, <a href="https://publications.waset.org/abstracts/search?q=Kustric%20Amer"> Kustric Amer</a>, <a href="https://publications.waset.org/abstracts/search?q=Suljevic%20Ismet"> Suljevic Ismet</a>, <a href="https://publications.waset.org/abstracts/search?q=Serafi%20Ismail"> Serafi Ismail</a>, <a href="https://publications.waset.org/abstracts/search?q=Tahmiscija%20Indira"> Tahmiscija Indira</a>, <a href="https://publications.waset.org/abstracts/search?q=Khatib%20Hakam"> Khatib Hakam</a>, <a href="https://publications.waset.org/abstracts/search?q=Semic%20Jusufagic%20Aida"> Semic Jusufagic Aida</a>, <a href="https://publications.waset.org/abstracts/search?q=Haas%20Helmut"> Haas Helmut</a>, <a href="https://publications.waset.org/abstracts/search?q=Vladicic%20Aleksandra"> Vladicic Aleksandra</a>, <a href="https://publications.waset.org/abstracts/search?q=Aplenc%20Richard"> Aplenc Richard</a>, <a href="https://publications.waset.org/abstracts/search?q=Kadic%20Deovic%20Aida"> Kadic Deovic Aida</a> </p> <p class="card-text"><strong>Abstract:</strong></p> Introduction: Joubert syndrome has an autosomal recessive pattern of inheritance. It is referred as the brain malfunctioning and caused due to the underdevelopment of the cerebellar vermis. Associated conditions involving the eye, the kidney, and ocular disease are well described. Aims: Research helps us better understand this diseases, Joubert syndrome and can lead to advances in diagnosis and treatment. Methods: Different several conditions have been described in which the molar tooth sign and characteristics of Joubert syndrome in ten different places in the world. Carrier testing and diagnosis are available if one of these gene mutations has been identified in an affected family member. Results: Authors have described eleven cases during twenty years of Joubert syndrome. It is a clinically and genetically heterogeneous group of disorders characterized by hypoplasia of the cerebellar vermis with the characteristic neuroradiologic molar tooth sign, and accompanying neurologic symptoms, including dysregulation of breathing pattern and developmental delay. We made confirmation of diagnosis in twin sisters with Joubert syndrome with renal anomalies. Ocular symptoms have existed in seven cases (63.64%) from total eleven. Eleven cases were different sex, five boys (45.45%) and six girls (54.44%). Conclusions: Joubert syndrome is inherited as an autosomal recessive genetic disorder with several features of the disease. <p class="card-text"><strong>Keywords:</strong> <a href="https://publications.waset.org/abstracts/search?q=Joubert%20syndrome" title="Joubert syndrome">Joubert syndrome</a>, <a href="https://publications.waset.org/abstracts/search?q=cerebellooculorenal%20syndrome" title=" cerebellooculorenal syndrome"> cerebellooculorenal syndrome</a>, <a href="https://publications.waset.org/abstracts/search?q=autosomal%20recessive%20genetic%20disorder%20%28ARGD%29" title=" autosomal recessive genetic disorder (ARGD)"> autosomal recessive genetic disorder (ARGD)</a>, <a href="https://publications.waset.org/abstracts/search?q=children" title=" children"> children</a> </p> <a href="https://publications.waset.org/abstracts/70523/joubert-syndrome-in-children-as-multicentric-screening-in-ten-different-places-in-world" class="btn btn-primary btn-sm">Procedia</a> <a href="https://publications.waset.org/abstracts/70523.pdf" target="_blank" class="btn btn-primary btn-sm">PDF</a> <span class="bg-info text-light px-1 py-1 float-right rounded"> Downloads <span class="badge badge-light">278</span> </span> </div> </div> </div> </main> <footer> <div id="infolinks" class="pt-3 pb-2"> <div class="container"> <div style="background-color:#f5f5f5;" class="p-3"> <div class="row"> <div class="col-md-2"> <ul class="list-unstyled"> About <li><a href="https://waset.org/page/support">About Us</a></li> <li><a href="https://waset.org/page/support#legal-information">Legal</a></li> <li><a target="_blank" rel="nofollow" href="https://publications.waset.org/static/files/WASET-16th-foundational-anniversary.pdf">WASET celebrates its 16th foundational anniversary</a></li> </ul> </div> <div class="col-md-2"> <ul class="list-unstyled"> Account <li><a href="https://waset.org/profile">My Account</a></li> </ul> </div> <div class="col-md-2"> <ul class="list-unstyled"> Explore <li><a href="https://waset.org/disciplines">Disciplines</a></li> <li><a href="https://waset.org/conferences">Conferences</a></li> <li><a href="https://waset.org/conference-programs">Conference Program</a></li> <li><a href="https://waset.org/committees">Committees</a></li> <li><a href="https://publications.waset.org">Publications</a></li> </ul> </div> <div class="col-md-2"> <ul class="list-unstyled"> Research <li><a href="https://publications.waset.org/abstracts">Abstracts</a></li> <li><a href="https://publications.waset.org">Periodicals</a></li> <li><a href="https://publications.waset.org/archive">Archive</a></li> </ul> </div> <div class="col-md-2"> <ul class="list-unstyled"> Open Science <li><a target="_blank" rel="nofollow" href="https://publications.waset.org/static/files/Open-Science-Philosophy.pdf">Open Science Philosophy</a></li> <li><a target="_blank" rel="nofollow" href="https://publications.waset.org/static/files/Open-Science-Award.pdf">Open Science Award</a></li> <li><a target="_blank" rel="nofollow" href="https://publications.waset.org/static/files/Open-Society-Open-Science-and-Open-Innovation.pdf">Open Innovation</a></li> <li><a target="_blank" rel="nofollow" href="https://publications.waset.org/static/files/Postdoctoral-Fellowship-Award.pdf">Postdoctoral Fellowship Award</a></li> <li><a target="_blank" rel="nofollow" href="https://publications.waset.org/static/files/Scholarly-Research-Review.pdf">Scholarly Research Review</a></li> </ul> </div> <div class="col-md-2"> <ul class="list-unstyled"> Support <li><a href="https://waset.org/page/support">Support</a></li> <li><a href="https://waset.org/profile/messages/create">Contact Us</a></li> <li><a href="https://waset.org/profile/messages/create">Report Abuse</a></li> </ul> </div> </div> </div> </div> </div> <div class="container text-center"> <hr style="margin-top:0;margin-bottom:.3rem;"> <a href="https://creativecommons.org/licenses/by/4.0/" target="_blank" class="text-muted small">Creative Commons Attribution 4.0 International License</a> <div id="copy" class="mt-2">© 2024 World Academy of Science, Engineering and Technology</div> </div> </footer> <a href="javascript:" id="return-to-top"><i class="fas fa-arrow-up"></i></a> <div class="modal" id="modal-template"> <div class="modal-dialog"> <div class="modal-content"> <div class="row m-0 mt-1"> <div class="col-md-12"> <button type="button" class="close" data-dismiss="modal" aria-label="Close"><span aria-hidden="true">×</span></button> </div> </div> <div class="modal-body"></div> </div> </div> </div> <script src="https://cdn.waset.org/static/plugins/jquery-3.3.1.min.js"></script> <script src="https://cdn.waset.org/static/plugins/bootstrap-4.2.1/js/bootstrap.bundle.min.js"></script> <script src="https://cdn.waset.org/static/js/site.js?v=150220211556"></script> <script> jQuery(document).ready(function() { /*jQuery.get("https://publications.waset.org/xhr/user-menu", function (response) { jQuery('#mainNavMenu').append(response); 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Search results for: Uzicanin Sajra