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Material Type: Article
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Somatic Mutations in Vascular Malformations of Hereditary Hemorrhagic Telangiectasia Result in Bi-allelic Loss of ENG or ACVRL1Snellings, Daniel A. ; Gallione, Carol J. ; Clark, Dewi S. ; Vozoris, Nicholas T. ; Faughnan, Marie E. ; Marchuk, Douglas A.American journal of human genetics, 2019-11, Vol.105 (5), p.894-906 [Peer Reviewed Journal]United States: Elsevier IncFull text available |
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Material Type: Article
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Identification of plasma biomarkers for distinguishing bipolar depression from major depressive disorder by iTRAQ-coupled LC–MS/MS and bioinformatics analysisRen, Juanjuan ; Zhao, Guoqing ; Sun, Xiujia ; Liu, Hongmei ; Jiang, Ping ; Chen, Jun ; Wu, Zhiguo ; Peng, Daihui ; Fang, Yiru ; Zhang, ChenPsychoneuroendocrinology, 2017-12, Vol.86, p.17-24 [Peer Reviewed Journal]England: Elsevier LtdFull text available |
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Material Type: Article
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A new method for spike extraction using velocity selective recording demonstrated with physiological ENG in RatMetcalfe, B.W. ; Chew, D.J. ; Clarke, C.T. ; Donaldson, N. de N. ; Taylor, J.T.Journal of neuroscience methods, 2015-08, Vol.251, p.47-55 [Peer Reviewed Journal]Netherlands: Elsevier B.VFull text available |
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Material Type: Article
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Cross-Talk between Mucosal-Associated Invariant T, Natural Killer, and Natural Killer T Cell Populations is Implicated in the Pathogenesis of Placenta Accreta SpectrumEl-Badawy, Omnia ; Abbas, Ahmed M. ; Radwan, Eman ; Makboul, Rania ; Khamis, Areej A. ; Ali, Maha ; Elkabsh, Mai M. ; Bakr, Marwa H. ; Zahran, Asmaa M.Inflammation, 2023-08, Vol.46 (4), p.1192-1208 [Peer Reviewed Journal]New York: Springer USFull text available |
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Material Type: Article
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Hereditary hemorrhagic telangiectasia: clinical features in ENG and ALK1 mutation carriersSABBÀ, C. ; PASCULLI, G. ; LENATO, G. M. ; SUPPRESSA, P. ; LASTELLA, P. ; MEMEO, M. ; DICUONZO, F. ; GUANTI, G.Journal of thrombosis and haemostasis, 2007-06, Vol.5 (6), p.1149-1157 [Peer Reviewed Journal]Oxford, UK: Blackwell Publishing LtdFull text available |
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Material Type: Article
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Mutations in the ENG, ACVRL1, and SMAD4 genes and clinical manifestations of hereditary haemorrhagic telangiectasia: experience from the Center for Osler's Disease, Uppsala University HospitalKarlsson, Torbjörn ; Cherif, HonarUpsala journal of medical sciences, 2018-09, Vol.123 (3), p.153-157 [Peer Reviewed Journal]England: Taylor & FrancisFull text available |
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Material Type: Article
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Non‐invasive CT screening for pulmonary arteriovenous malformations in children with confirmed hereditary hemorrhagic telangiectasia: Results from two pediatric centersSoysal, Nurcan ; Eyries, Mélanie ; Verlhac, Suzanne ; Escabasse, Virginie ; Remus, Natascha ; Tamalet, Aline ; Rioux, Jean‐Yves ; Franchi‐Abella, Stéphanie ; Vasile, Manuela ; Robert, Sarah ; Delestrain, Céline ; Hau, Isabelle ; Ducou‐Le Pointe, Hubert ; Soubrier, Florent ; Carette, Marie‐France ; Epaud, RalphPediatric pulmonology, 2017-05, Vol.52 (5), p.642-649 [Peer Reviewed Journal]United States: Wiley Subscription Services, IncFull text available |
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Material Type: Article
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Hereditary hemorrhagic telangiectasia: How accurate are the clinical criteria?van Gent, Marco W.F. ; Velthuis, Sebastiaan ; Post, Martijn C. ; Snijder, Repke J. ; Westermann, Cornelis J.J. ; Letteboer, Tom G.W. ; Mager, Johannes J.American journal of medical genetics. Part A, 2013-03, Vol.161A (3), p.461-466 [Peer Reviewed Journal]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyFull text available |
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Material Type: Article
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Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotypeBossler, Aaron D. ; Richards, Jennifer ; George, Cicily ; Godmilow, Lynn ; Ganguly, ArupaHuman mutation, 2006-07, Vol.27 (7), p.667-675 [Peer Reviewed Journal]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyFull text available |
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Material Type: Article
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Genetic epidemiology of hereditary hemorrhagic telangiectasia in a local community in the northern part of JapanDakeishi, Miwako ; Shioya, Takanobu ; Wada, Yasuhiko ; Shindo, Tsutomu ; Otaka, Kousei ; Manabe, Motomu ; Nozaki, Jun-Ichi ; Inoue, Sumiko ; Koizumi, AkioHuman mutation, 2002-02, Vol.19 (2), p.140-148 [Peer Reviewed Journal]New York: John Wiley & Sons, IncFull text available |