Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
Results
Showing 1 to 4 of 4 for “"rare genetic condition"”.
-
The role of the amygdala in dreaming
… exists. Urbach-Wiethe Disease (UWD) is a very rare genetic condition that can lead to calcifications in the medial temporal lobes. This study analysed 26 dream reports collected from eight adult UWD patients with fully calcified basolateral amygdalae bilaterally, and compared them to 58 dream …
-
Sleep Disturbances in Adults with TSC: Influences of Treatment and Clinical Features
<p>Tuberous sclerosis complex (TSC) is a rare genetic condition caused by pathogenic variants in the <em>TSC1</em> or <em>TSC2</em> genes. TSC is characterized by a multisystem, neurocutaneous phenotype including skin lesions, hamartomas, and epilepsy. Additionally, TSC can present with an array of …
-
Knowledge, attitudes and practises toward premarital genetic testing for rare genetic disorders among Omani families at Sultan Qaboos University Hospital
… is associated with an elevated occurrence of rare autosomal recessive disorders. Presently, at the national level, the existing premarital screening (PMS) initiative primarily targets hemoglobinopathies, which are particularly prevalent within the country and not necessarily associated with …
-
Expanding the Phenotype of SETD5-related Disorder through a Facebook Support Group
<p><em>SETD5-</em>related disorder is a neurodevelopmental disorder caused by pathogenic variants in the <em>SETD5 </em>gene<em>, </em>impacting brain function. <em>SETD5</em>-related disorder was discovered in 2014, with fewer than 75 individuals reported to-date in the literature. This study aims …