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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A blow to the templePridmore, SaxbyAustralasian psychiatry : bulletin of Royal Australian and New Zealand College of Psychiatrists, 2011, Vol.19 (4), p.371-371Texto completo disponível |
5 |
Material Type: Report
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Abdominal apoplexy: a potentially fatal enigmaTan, Y. M. ; Tan, Benita K. T. ; Chow, Pierce K. H.ANZ Journal of Surgery, 2003, Vol.73 (6), p.461-462Oxford, UK: Blackwell Science PtyTexto completo disponível |
6 |
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 |
7 |
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 |
8 |
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 |
9 |
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 |
10 |
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 |