Search Results - "Braha, E."
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1
Ring Autosomes: Some Unexpected Findings
Published in Balkan journal of medical genetics (01-12-2012)“…Ring chromosomes are rare entities, usually associated with phenotypic abnormalities in correlation with the loss of genetic material. There are various…”
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Journal Article -
2
Retard sévère de croissance, déficit psychomoteur, dysmorphie faciale – un cas de duplication de novo 15q21.2–q24.1
Published in Annales d'endocrinologie (01-10-2014)“…La duplication distale du chromosome 15q est une anomalie chromosomique très rare caractérisée par un défaut de croissance, un retard psychomoteur avec des…”
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Journal Article -
3
Adrénoleucodystrophie–même pathologie, différentes présentations
Published in Annales d'endocrinologie (01-10-2014)“…L’adrenoleucosystrophie (ALD) est une maladie liée à l’X caractérisée par une altération de bêta-oxydation des acides gras à très longue chaîne et dans les cas…”
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4
Rare Dosage Abnormalities – Copy Number Variations Flanking the SHOX Gene
Published in Acta endocrinologica (Bucharest, Romania : 2005) (2023)Get full text
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Incidence and implications of alexithymia in chronic pain patients
Published in The journal of nervous and mental disease (01-04-1985)“…Alexithymia is a clinical phenomenon that has been found to occur with some frequency in psychosomatic disorders. Its prevalence in psychosomatic patients…”
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Journal Article -
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Monitoring and Management of Bardet-Biedl Syndrome: What the Multi-Disciplinary Team Can Do
Published in Journal of multidisciplinary healthcare (01-01-2022)“…Bardet-Biedl syndrome is a rare autosomal recessive multisystem non-motile ciliopathy. It has heterogeneous clinical manifestations. It is caused by mutations…”
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RARE DOSAGE ABNORMALITIES - COPY NUMBER VARIATIONS FLANKING THE SHOX GENE
Published in Acta endocrinologica (Bucharest, Romania : 2005) (01-01-2023)“…BackgroundMolecular defects in the SHOX gene including deletions, duplications or pathogenic point mutations are responsible for well-known pathologies…”
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The use of structured group therapy sessions in the treatment of chronic pain patients
Published in Pain (Amsterdam) (01-05-1985)“…Although group therapy is used in a number of multidisciplinary pain treatment centres, few published accounts of procedures are available. The present report…”
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A test to measure the awareness and expression of anger
Published in Psychotherapy and psychosomatics (01-01-1985)“…The purpose of this project was to develop a reliable, objective and practical tool with which the awareness and expression of anger could be investigated…”
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Predictability and pain prediction, perception and behaviour in chronic low back pain patients
Published 01-01-1995“…Theory and research on the psychological consequences of exposure to aversive events provided the background for this dissertation, which predicted that…”
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Dissertation -
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Validating a test to measure the awareness and expression of anger
Published 01-01-1987Get full text
Dissertation