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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17p13.1 microdeletion involving the TP53 gene in a boy presenting with mental retardation but no tumorSchluth-Bolard, Caroline ; Sanlaville, Damien ; Labalme, Audrey ; Till, Marianne ; Morin, Isabelle ; Touraine, Renaud ; Edery, PatrickAmerican Journal of Medical Genetics Part A, 2010, Vol.152A (5), p.1278-1282Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
2 |
Material Type: Report
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17p13.1 microduplication in a boy with Silver-Russell syndrome features and intellectual disabilityCoutton, Charles ; Devillard, Francoise ; Vieville, Gaëlle ; Amblard, Florence ; Lopez, Gipsy ; Jouk, Pierre-Simon ; Satre, VéroniqueAmerican Journal of Medical Genetics Part A, 2012, Vol.158A (10), p.2564-2570Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
3 |
Material Type: Report
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2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial featuresChung, Brian H.Y. ; Stavropoulos, James ; Marshall, Christian R. ; Weksberg, Rosanna ; Scherer, Stephen W. ; Yoon, GraceAmerican Journal of Medical Genetics Part A, 2011, Vol.155A (2), p.424-429Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
4 |
Material Type: Report
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Aberrant methylation of H19-DMR acquired after implantation was dissimilar in soma versus placenta of patients with Beckwith-Wiedemann syndromeHigashimoto, Ken ; Nakabayashi, Kazuhiko ; Yatsuki, Hitomi ; Yoshinaga, Hokuto ; Jozaki, Kosuke ; Okada, Junichiro ; Watanabe, Yoriko ; Aoki, Aiko ; Shiozaki, Arihiro ; Saito, Shigeru ; Koide, Kayoko ; Mukai, Tsunehiro ; Hata, Kenichiro ; Soejima, HidenobuAmerican Journal of Medical Genetics Part A, 2012, Vol.158A (7), p.1670-1675Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
5 |
Material Type: Report
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AcknowledgementsWHO Technical Report Series, 2011 (962), p.150World Health OrganizationTexto completo disponível |
6 |
Material Type: Report
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AcknowledgementsWHO Technical Report Series, 2011 (962), p.150World Health OrganizationTexto completo disponível |
7 |
Material Type: Report
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AcknowledgementsWHO Technical Report Series, 2011 (962), p.150World Health OrganizationTexto completo disponível |
8 |
Material Type: Report
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Acquired partial lipodystrophy treated with poly-L-lactic acid and hyaluronic acid fillers: a case reportZhang, Amy J. ; Moraites, Eleni ; Goldfarb, Noah ; Liszewski, Walter ; Farah, Ronda S.Journal of Cosmetic and Laser Therapy, 2019, Vol.21 (4), p.201-202Taylor & FrancisTexto completo disponível |
9 |
Material Type: Report
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Acute Mental Status Changes and Hyperchloremic Metabolic Acidosis with Long-Term Topiramate TherapyStowe, Cindy D. ; Bolliger, Temple ; James, Laura P. ; Haley, Tonya M. ; Griebel, May L. ; Farrar III, Henry C.Pharmacotherapy: The Journal of Human Pharmacology and Drug Therapy, 2000, Vol.20 (1), p.105-109Oxford, UK: Blackwell Publishing LtdTexto completo disponível |
10 |
Material Type: Report
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Acute promyelocytic leukaemia presenting as postpartum haemorrhageMurrin, R. J. A. ; Adjetey, V. ; Harrison, P. ; Warwick, A.Clinical & Laboratory Haematology, 2004, Vol.26 (3), p.233-237Oxford, UK: Blackwell Science LtdTexto completo disponível |