Risultati della ricerca - Declan O’Rourke
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The changing pattern of adult primary glomerular disease di Jennifer Hanko, Robert Mullan, Declan O’Rourke, Peter McNamee, Alexander P. Maxwell, Aisling E. Courtney
Pubblicazione 2009Artigo -
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Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy di Dorien Lugtenberg, Tjitske Kleefstra, Astrid Oudakker, Willy M. Nillesen, Helger G. Yntema, Andreas Tzschach, Martine Raynaud, D. Rating, Hubert Journel, Jamel Chelly, Cyril Goizet, Didier Lacombe, Jean‐Michel Pédespan, Bernard Échenne, Gholamali Tariverdian, Declan O’Rourke, Mary D. King, Andrew Green, Margriet van Kogelenberg, Hilde Van Esch, Jozef Gécz, Ben C.J. Hamel, Hans van Bokhoven, Arjan P.M. de Brouwer
Pubblicazione 2008Artigo -
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Validation of a Metastatic Assay using biopsies to improve risk stratification in patients with prostate cancer treated with radical radiation therapy di Suneil Jain, C. Lyons, Steven M. Walker, Stephen McQuaid, Seán O. Hynes, D. Mitchell, Brendan Pang, Gemma E. Logan, Andrena McCavigan, Declan O’Rourke, Darragh G. McArt, Simon S. McDade, Ian G. Mills, Kevin M. Prise, Laura A. Knight, Christopher Steele, Paul Medlow, Viktor Berge, Betina Katz, D.A. Loblaw, D. Paul Harkin, Jacqueline A. James, Joe M. O’Sullivan, Richard D. Kennedy, David Waugh
Pubblicazione 2017Artigo -
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EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations di Veerle Rc Eggens, P. G. Barth, Jikke-Mien F. Niermeijer, Jonathan Berg, Niklas Darín, Abhijit Dixit, Joël Fluss, Nicola Foulds, Darren Fowler, Tibor Hortobágyi, Thomas S. Jacques, Mary D. King, Periklis Makrythanasis, Adrienn Máté, James A. R. Nicoll, Declan O’Rourke, Sue Price, Andrew N. Williams, Louise C. Wilson, Mohnish Suri, László Sztriha, Marit B Dijns-de Wissel, Mia T van Meegen, Fred van Ruissen, Eleonora Aronica, Dirk Troost, Charles B.L.M. Majoie, Henk A. Marquering, Bwee Tien Poll‐The, Frank Baas
Pubblicazione 2014Artigo -
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THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder di Martin Broly, Bogdan Polevoda, Kamel Awayda, Ning Tong, Jenna M. Lentini, Thomas Besnard, Wallid Deb, Declan O’Rourke, Júlia Baptista, Sian Ellard, Mohammed Almannai, Mais Hashem, Ferdous Abdulwahab, Hanan E. Shamseldin, Saeed M Al-Tala, Fowzan S. Alkuraya, A. S. Leon, Rosa Laura E. van Loon, Alessandra Ferlini, Mariabeatrice Sanchini, Stefania Bigoni, Andrea Ciorba, Hans van Bokhoven, Zafar Iqbal, Almundher Al‐Maawali, Fathiya Al-Murshedi, Anuradha Ganesh, Watfa Al‐Mamari, Sze Chern Lim, Lynn Pais, Natasha J. Brown, Saima Riazuddin, Stéphane Bézieau, Dragony Fu, Bertrand Isidor, Benjamin Cogné, Mitchell R. O’Connell
Pubblicazione 2022Artigo
Strumenti per la ricerca:
Soggetti correlati
Medicine
Internal medicine
Biology
Gene
Genetics
Allele
Biopsy
Cancer
Endocrinology
Missense mutation
Pathology
Phenotype
Psychology
Acetylation
Anatomy
Androgen deprivation therapy
Atrophy
Breast cancer
Cerebellar hypoplasia (non-human)
Cerebellum
Cervical cancer
Cognition
Cognitive psychology
Cohort
Compound heterozygosity
Computer science
Concordance
Confidence interval
Degenerative disease
Diabetes mellitus