Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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1 |
Material Type: Report
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Digenic FLNA and UCHL1 variants resulting in a complex phenotypePernice, Helena F ; O'Donnell, Luke F ; Rossor, Alexander M ; Laura, Matilde ; Record, Christopher J ; Skorupinska, Mariola ; Blake, Julian ; Poh, Roy ; Polke, James ; Reilly, Mary MJournal of the peripheral nervous system : JPNS, 2024, Vol.29 (1), p.111-115Texto completo disponível |
2 |
Material Type: Report
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Cholesterol ester storage disease with a novel LIPA mutation (L264P) that presented massive hepatomegaly: A case reportKuranobu, Naomi ; Murakami, Jun ; Okamoto, Ken ; Nishimura, Rei ; Murayama, Kei ; Takamura, Ayumi ; Umeda, Toshiko ; Eto, Yoshikatsu ; Kanzaki, SusumuHepatology Research, 2016, Vol.46 (5), p.477-482Blackwell Publishing LtdTexto completo disponível |
3 |
Material Type: Report
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Melanoma arising in a nevus of Ito: novel genetic mutations and a review of the literature on cutaneous malignant transformation of dermal melanocytosisTse, Julie Y. ; Walls, Brooke E. ; Pomerantz, Hyemin ; Yoon, Charles H. ; Buchbinder, Elizabeth I. ; Werchniak, Andrew E. ; Dong, Fei ; Lian, Christine G. ; Granter, Scott R.Journal of Cutaneous Pathology, 2016, Vol.43 (1), p.57-63Oxford, UK: Blackwell Publishing LtdTexto completo disponível |
4 |
Material Type: Report
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Breast Necrosis after Chemotherapy for Recurrent Ovarian Cancer: Report of a Case and Review of the LiteratureMatloob, Reza ; Alikhasi, Afsaneh ; Shirkhoda, Mohammad ; Najafi, MassoomeThe Breast Journal, 2015, Vol.21 (4), p.418-422Blackwell Publishing LtdTexto completo disponível |
5 |
Material Type: Report
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Senescent case of cholesterol ester storage disease that progressed to liver cirrhosis with a novel mutation (N250H) of lysosomal acid lipase geneKojima, Seiichiro ; Watanabe, Norihito ; Takashimizu, Shinji ; Kagawa, Tatehiro ; Shiraishi, Koichi ; Koizumi, Jun ; Hirabayashi, Ken-ichi ; Ohkubo, Tomoichi ; Kamiguchi, Hiroshi ; Tsuda, Michio ; Mine, TetsuyaHepatology Research, 2013, Vol.43 (12), p.1361-1367Blackwell Publishing LtdTexto completo disponível |
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Material Type: Report
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Porokeratosis ptychotropica: a rare and evolving variant of porokeratosisYeo, Jennifer ; Winhoven, Sandra ; Tallon, BenJournal of Cutaneous Pathology, 2013, Vol.40 (12), p.1042-1047Oxford, UK: Blackwell Publishing LtdTexto completo disponível |
7 |
Material Type: Report
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Use of a soluble epoxide hydrolase inhibitor as an adjunctive analgesic in a horse with laminitisGuedes, Alonso GP ; Morisseau, Christophe ; Sole, Albert ; Soares, Joao HN ; Ulu, Arzu ; Dong, Hua ; Hammock, Bruce DVeterinary Anaesthesia and Analgesia, 2013, Vol.40 (4), p.440-448Blackwell Publishing LtdTexto completo disponível |
8 |
Material Type: Report
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Sirenomelia after phenobarbital and carbamazepine therapy in pregnancyTica, Oana Sorina ; Tica, Andrei Adrian ; Brailoiu, Cristina Gabriela ; Cernea, Nicolae ; Tica, Vlad IustinBirth Defects Research Part A: Clinical and Molecular Teratology, 2013, Vol.97 (6), p.425-428Blackwell Publishing LtdTexto completo disponível |
9 |
Material Type: Report
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Cannabidiol for the treatment of cannabis withdrawal syndrome: a case reportCrippa, J. A. S. ; Hallak, J. E. C. ; Machado-de-Sousa, J. P. ; Queiroz, R. H. C. ; Bergamaschi, M. ; Chagas, M. H. N. ; Zuardi, A. W.Journal of Clinical Pharmacy and Therapeutics, 2013, Vol.38 (2), p.162-164Oxford, UK: Blackwell Publishing LtdTexto completo disponível |
10 |
Material Type: Report
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A child with an inherited 0.31 Mb microdeletion of chromosome 14q32.33: Further delineation of a critical region for the 14q32 deletion syndromeHolder Jr, J. Lloyd ; Lotze, Timothy E. ; Bacino, Carlos ; Cheung, Sau-WaiAmerican Journal of Medical Genetics Part A, 2012, Vol.158A (8), p.1962-1966Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |