Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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11 |
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 |
12 |
Material Type: Report
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Absence of PITX2, BARX1, and FOXC1 mutations in De Hauwere syndrome (Axenfeld-Rieger anomaly, hydrocephaly, hearing loss): A 25-year follow upLowry, R. Brian ; Gould, Douglas B. ; Walter, Michael A. ; Savage, Paul R.American Journal of Medical Genetics Part A, 2007, Vol.143A (11), p.1227-1230Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
13 |
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 |
14 |
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 |
15 |
Material Type: Report
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Alveolar soft-part sarcoma of the retroperitoneumISHIKAWA, MASAKUNI ; ISHIZUKA, OSAMU ; NAKAYAMA, TSUYOSHI ; KOBAYASHI, SHINYA ; IGAWA, YASUHIKO ; NISHIZAWA, OSAMU ; SUGIMOTO, KOUJI ; YAMASHITA, TOSHIO ; MATSUSHITA, TAKAAKIInternational Journal of Urology, 2006, Vol.13 (10), p.1355-1357Melbourne, Australia: Blackwell Publishing AsiaTexto completo disponível |
16 |
Material Type: Report
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An Alu retrotransposition-mediated deletion of CHD7 in a patient with CHARGE syndromeUdaka, Toru ; Okamoto, Nobuhiko ; Aramaki, Michihiko ; Torii, Chiharu ; Kosaki, Rika ; Hosokai, Noboru ; Hayakawa, Toshiyuki ; Takahata, Naoyuki ; Takahashi, Takao ; Kosaki, KenjiroAmerican Journal of Medical Genetics Part A, 2007, Vol.143A (7), p.721-726Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
17 |
Material Type: Report
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Anaesthetic implications of LEOPARD syndromeTorres, Javier ; Russo, Pierantonio ; Tobias, Joseph D.Pediatric Anesthesia, 2004, Vol.14 (4), p.352-356Oxford, UK: Blackwell Publishing LtdTexto completo disponível |
18 |
Material Type: Report
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AngioJet rheolytic thrombectomy in a neonate with pulmonary artery thrombusNicholson, George T. ; Kogon, Brian ; Vincent, RobertCatheterization and Cardiovascular Interventions, 2013, Vol.82 (5), p.E704-E707Blackwell Publishing LtdTexto completo disponível |
19 |
Material Type: Report
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Anterior segment anomalies of the eye, growth retardation associated with hypoplastic pituitary gland and endocrine abnormalities: Jung syndrome or a new syndrome?Al-Gazali, Lihadh ; Shather, Bedir ; Kaplan, Waleed ; Algawi, Kais ; Ali, Bassam R.American Journal of Medical Genetics Part A, 2009, Vol.149A (2), p.251-256Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
20 |
Material Type: Report
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Array-CGH and clinical characterization in a patient with subtelomeric 6p deletion without ocular dysgenesisPiccione, Maria ; Antona, R. ; Salzano, E. ; Cavani, S. ; Malacarne, M. ; Morreale Bubella, R. ; Pierluigi, M. ; Viaggi, C.D. ; Corsello, GiovanniAmerican Journal of Medical Genetics Part A, 2012, Vol.158A (1), p.150-154Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |