Journal of Medical Genetics

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Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency)
Journal of Medical Genetics - Tập 41 Số 7 - Trang 550-556 - 2004
E Schollen
Global microarray profiling identifiedhsa_circ_0064428as a potential immune-associated prognosis biomarker for hepatocellular carcinoma
Journal of Medical Genetics - Tập 56 Số 1 - Trang 32-38 - 2019
Qiaoyou Weng, Minjiang Chen, Maoquan Li, Yongfa Zheng, Guoliang Shao, Weijun Fan, Ximing Xu, Jiansong Ji
BackgroundIncreasing evidence has shown that circular RNAs (circRNAs) are involved tumourigenesis and metastasis of hepatocellular carcinoma (HCC); however, progression about its function in HCC is relatively slow. Here, we aimed to investigate whether plasma circRNAs could reflect the tumour-infiltrating lymphocytes (TILs) in HCC tumour tissues and serve...... hiện toàn bộ
Meta-analysis of vascular endothelial growth factor variations in amyotrophic lateral sclerosis: increased susceptibility in male carriers of the -2578AA genotype
Journal of Medical Genetics - Tập 46 Số 12 - Trang 840-846 - 2009
Diether Lambrechts, Koen Poesen, Rubén Fernández‐Santiago, Ammar Al‐Chalabi, Dongsheng Fan, Paul W.J. van Vught, Seema A. Khan, Stefan L. Marklund, Alice Brockington, Ingrid van Marion, Johanna Anneser, Christopher E. Shaw, Albert C. Ludolph, Nigel P. Leigh, Giacomo P. Comi, Thomas Gasser, Pamela J. Shaw, Karen Morrison, P. M. Andersen, Leonard H. van den Berg, Vincent Thijs, Teepu Siddique, Peter Carmeliet
Mutation analysis in the MECP2 gene and genetic counselling for Rett syndrome
Journal of Medical Genetics - Tập 40 Số 5 - Trang 380-384 - 2003
Harinder Gill
Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations
Journal of Medical Genetics - Tập 44 Số 2 - Trang 131-135
Martin Zenker, Katarina Lehmann, AL Schulz, Heidi Barth, D. Hansmann, Rainer Koenig, Rudolf Korinthenberg, Martina Kreiß‐Nachtsheim, Peter Meinecke, Susanne Morlot, Stefan Mundlos, Anne S. Quante, Salmo Raskin, Dirk Schnabel, Lore Wehner, Christian P. Kratz, Denise Horn, Kerstin Kutsche
Global prevalence of putative haemochromatosis mutations.
Journal of Medical Genetics - Tập 34 Số 4 - Trang 275-278 - 1997
Alison T. Merryweather‐Clarke, Jennifer J. Pointon, Jeremy D. Shearman, Kathryn Robson
Further clinical and molecular delineation of the 15q24 microdeletion syndrome
Journal of Medical Genetics - Tập 49 Số 2 - Trang 110-118 - 2012
Heather C. Mefford, Jill A. Rosenfeld, Natasha Shur, Anne Slavotinek, Victoria Cox, Raoul C. M. Hennekam, Helen V. Firth, Lionel Willatt, Patricia G. Wheeler, Eric M. Morrow, Joseph Cook, Rachel Sullivan, Albert K. Oh, Marie McDonald, Jonathan Zonana, Kory Keller, Mark C. Hannibal, Susie Ball, Jennifer Kussmann, Jerome L. Gorski, Susan Zelewski, Valerie Banks, Shawn E. McCandless, Rosemarie Smith, Lindsay Paull, Kenneth Rosenbaum, David J. Amor, João Silva, Allen N. Lamb, Evan E. Eichler
Mainstreamed genetic testing for women with ovarian cancer: first-year experience
Journal of Medical Genetics - Tập 56 Số 3 - Trang 195-198 - 2019
Belinda Rahman, Anne Lanceley, Rebecca Kristeleit, Jonathan A. Ledermann, Michelle Lockley, Mary McCormack, Tim Mould, Lucy Side
BackgroundOvarian cancer is the fifth most common cause of cancer death for women in the UK. Up to 18% of cases can be attributed to germline mutations in BRCA1 and BRCA2genes. Identifying patients who carry a BRCA mutation provides important information about potential respo...... hiện toàn bộ
Recessive mutations inMCM4/PRKDCcause a novel syndrome involving a primary immunodeficiency and a disorder of DNA repair
Journal of Medical Genetics - Tập 49 Số 4 - Trang 242-245 - 2012
Jillian P. Casey, Michael C. Nobbs, Paul McGettigan, Sally Ann Lynch, Sean Ennis
Two sisters with mental retardation, cataract, ataxia, progressive hearing loss, and polyneuropathy.
Journal of Medical Genetics - Tập 28 Số 12 - Trang 884-885 - 1991
J.H. Begeer, F A Scholte, Anthonie J. van Essen
Tổng số: 140   
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