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 20 of 3292 for “"syndrome"”.
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Capgras' Syndrome
<p>Capgras' Syndrome, the delusion of doubles, is a rare delusional phenomenon in which a person believes that identical doubles have replaced significant people in his life and/or that there exist identical doubles of himself. These delusional doubles are almost always believed to be malevolent. …
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Genomics of Lynch syndrome and Constitutional mismatch repair deficiency syndrome
… MSH6 and PMS2 cause the dominant adult cancer syndrome termed Lynch syndrome (or hereditary non-polyposis colorectal cancer). In our South African cohort, the MLH1 exon 13 c.1528C>T mutation is the most common Lynch syndrome-causing variant in the Mixed Ancestry population. Recently, a patient …
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Modeling Autism Spectrum Disorder: Fragile X syndrome and Rett syndrome
… their therapeutic potential. Fragile X syndrome is a trinucleotide repeat disorder where repeat expansion in the FMR1 5’ untranslated region triggers its methylation and represses its transcription. Yet we were unable to reproduce this methylation when we aggressively expanded the repeat …
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Psychosis Risk Syndrome
… in risk of developing psychosis: Psychosis risk syndrome (PRS) criteria.
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Caretaker-Gen-Syndrome
Ataxia telangiectasia: Identifizierung und Charakterisierung nicht-konservativer Spleißmutationen und deren Auswirkungen im ATM-Gen. Ein hoher Anteil der bisher im ATM-Gen identifizierten Mutationen (>350, www.vmresearch.org/atm.htm) stellt Deletionen oder Insertionen direkt an den Exongrenzen dar; …
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The hyperventilation syndrome
The hyperventilation syndrome is the name given to a distinctive group of symptoms and signs which are caused by an increase in the depth and rate of breathing. This abnormal breathing is nearly always the result of emotional stress. The association between emotional stress and disorders of …
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Acupuncture and premenstrual syndrome
Premenstrual syndrome (PMS) is a common syndrome experienced by women during their reproductive years. Up to 95% of women experience PMS with 30% experiencing moderate to severe symptoms and in 5-10% of women, the symptoms of PMS often result in work and/or social impairment which disrupts the …
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The Dandy-Walker syndrome
The Dandy-Walker syndrome (DWS) has been defined as a congenital malformation of the structures of the posterior fossa characterised by cystic dilatation of the fourth ventricle, hypoplasia of the cerebellar vermis, enlargement of the posterior fossa, atresia of the foramina of Luschke and Magendie …
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"A syndrome so characteristic" Molecular and clinical studies of Fusobacterium necrophorum and Lemierre's syndrome
Lemierre’s syndrome is caused by Fusobacterium necrophorum and involves tonsillitis, jugular vein thrombophlebitis and septic pulmonary emboli. The first studies underlying this thesis focused on bacterial interaction with coagulation. The contact system initiates the intrinsic pathway of …
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Earlier Detection of Antiphospholipid Syndrome
… man had been tested earlier for antiphospholipid syndrome then this whole event could have been avoided and his life would be different today.
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Molekulargenetische Charakterisierung Kongenitaler Myasthener Syndrome
Die kongenitalen myasthenen Syndrome (CMS) bilden klinisch und pathogenetisch eine heterogene Gruppe von relativ seltenen hereditären Erkrankungen des Kindesalters. Sie werden durch unterschiedliche genetische Defekte im Bereich der neuromuskulären Endplatte verursacht und manifestieren sich mit …
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The Laurence-Moon-Biedl Syndrome
… to the diagnosis of "the Laurence-Moon-Biedl Syndrome"; (2) to point out that this syndrome is not a clear cut symptom complex,as was originally proposed by Solis-Cohen & Weiss (1), of the pentad of obesity, hypogenitalism, retinitis pigmentosa, mental retardation and polydactylism. It appears …
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Biomarkers identification in fibromyalgia syndrome
Fibromyalgia Syndrome (FMS) is a chronic syndrome characterized by widespread pain. FMS is a collection of other symptoms and overlapping conditions contribute to complicate the diagnosis, the assessment and the treatment. Unknown etiology and none laboratory tests have been appropriately validated …
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Biochemical aspects of Tourette's Syndrome
… elevations in plasma KYN in fasting Tourette's Syndrome (TS) patients with normal TRP and neopterin. The aim of our initial pilot study was to confirm this increase in KYN in fasting human TS patients compared with normal controls, and to see how changes in diet :ay influence certain kynurenine …
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Premenstrual syndrome and marital satisfaction
Clinical interest in PMS has existed for more than one and a half centuries. There is still no consensus about its frequency, seriousness, etiology or treatment. Its impact on marital relationships has not been an area of research interest, even though one woman in twenty, or even one every ten, …
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Large offspring syndrome, a bovine model for the human loss-of-imprinting overgrowth syndrome Beckwith-Wiedemann
Beckwith-Wiedemann syndrome (BWS) is a human loss-of-imprinting syndrome primarily characterized by macrosomia, macroglossia, and abdominal wall defects. BWS has been associated with misregulation of two clusters of imprinted genes. Children conceived with the use of assisted reproductive …
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Deep Brain Stimulation for Tourette Syndrome
… strategies for the treatment of Tourette syndrome (TS). The International Tourette Syndrome Deep Brain Stimulation (DBS) Public Database and Registry is a multinational collaborative effort designed to share data and improve the quality of outcomes research in the treatment of TS with DBS. …
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