Coffin-Siris Syndrome-1: Report of five cases from Asian populations with truncating mutations in the ARID1B gene
Sign Up to like & getrecommendations! Published in 2020 at "Journal of the Neurological Sciences"
DOI: 10.1016/j.jns.2020.116819
Abstract: BACKGROUND Pathogenic variants of the ARID1B gene are recognized as the most common cause of Coffin-Siris syndrome (CSS) and also one of the most common causes for intellectual disability (ID). Reported ARID1B variants in association… read more here.
Keywords: report five; coffin siris; syndrome report; arid1b gene ... See more keywords
Apremilast in orofacial granulomatosis—A report of five cases
Sign Up to like & getrecommendations! Published in 2020 at "Dermatologic Therapy"
DOI: 10.1111/dth.14345
Abstract: Dear Editor, Orofacial granulomatosis (OFG) is a chronic granulomatous disorder characterized by recurrent attacks of labial swelling and/or oropharyngeal ulcers. The spectrum is diverse and may comprise facial swelling, localized tags, widespread swelling, and cobble… read more here.
Keywords: granulomatosis report; apremilast orofacial; report five; orofacial granulomatosis ... See more keywords
Canine pemphigus folliaceus: report of five clinical case
Sign Up to like & getrecommendations! Published in 2018 at "Journal of the Hellenic Veterinary Medical Society"
DOI: 10.12681/jhvms.15457
Abstract: Η φυλλώδης πέμφιγα (ΦΠ), που αποτeλeί τη συχνότeρη αυτοάνοση δeρματοπάθeια του σκύλου, οφeίλeται στην παραγωγή αυτοαντισωμάτων κατά των δeσμοσωματίων του άνω τρίτου της eπιδeρμίδας, μe τeλικό αποτέλeσμα την απώλeια της συνοχής των κeρατινοκυττάρων (ακανθολυση) και… read more here.
Keywords: clinical case; folliaceus report; report five; pemphigus folliaceus ... See more keywords
Work-related post-traumatic stress disorder: report of five cases
Sign Up to like & getrecommendations! Published in 2020 at "Industrial Health"
DOI: 10.2486/indhealth.2020-0079
Abstract: Post-traumatic stress disorder (PTSD) may arise after events involving a risk to physical integrity or to life, one’s own or that of others. It is characterized by intrusive symptoms, avoidance behaviors, and hyper-excitability. Outside certain… read more here.
Keywords: post traumatic; report five; work related; stress disorder ... See more keywords