检索结果 - Howard R. Slater
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Methylation of novel markers of fragile X alleles is inversely correlated with FMRP expression and FMR1 activation ratio 由 David E. Godler, Flora Tassone, Danuta Z. Loesch, Annette Kimball Taylor, Freya Gehling, Randi J. Hagerman, Trent Burgess, Devika Ganesamoorthy, Debbie Hennerich, Lavinia Gordon, Andrew Evans, K.H. Andy Choo, Howard R. Slater
出版 2010Artigo -
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Evidence for the toxicity of bidirectional transcripts and mitochondrial dysfunction in blood associated with small CGG expansions in the FMR1 gene in patients with parkinsonism 由 Danuta Z. Loesch, David E. Godler, Andrew Evans, Minh Bui, Freya Gehling, Katya Kotschet, Nicholas Trost, Elsdon Storey, Paige Stimpson, Glynda Kinsella, David Francis, David R. Thorburn, Alison Venn, Howard R. Slater, Malcolm Horne
出版 2011Artigo -
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Early Detection of Fragile X Syndrome: Applications of a Novel Approach for Improved Quantitative Methylation Analysis in Venous Blood and Newborn Blood Spots 由 Yoshimi Inaba, Charles E. Schwartz, Minh Bui, Xin Li, Cindy Skinner, Michael Field, Tiffany Wotton, Randi J. Hagerman, David Francis, David J. Amor, John L. Hopper, Danuta Z. Loesch, Lesley Bretherton, Howard R. Slater, David E. Godler
出版 2014Artigo -
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Molecular and clinical characterization of 25 individuals with exonic deletions of <i>NRXN1</i> and comprehensive review of the literature 由 Frédérique Béna, Damien L. Bruno, Mats Eriksson, Conny M.A. van Ravenswaaij‐Arts, Zornitza Stark, Trijnie Dijkhuizen, Erica H. Gerkes, Stefania Gimelli, Devika Ganesamoorthy, Ann‐Charlotte Thuresson, Audrey Labalme, Marianne Till, Frédéric Bilan, Laurent Pasquier, Alain Kitzis, Christele Dubourgm, Massimiliano Rossi, Armand Bottani, Maryline Gagnebin, Damien Sanlaville, Brigitte Gilbert‐Dussardier, Michel Guipponi, Arie van Haeringen, Marjolein Kriek, Claudia Ruivenkamp, Stylianos E. Antonarakis, Britt Marie Anderlid, Howard R. Slater, Jacqueline Schoumans
出版 2013Revisão
相关主题
Biology
Genetics
Internal medicine
Medicine
Gene
Allele
Computational biology
Aneuploidy
Chromosome
DNA methylation
FMR1
Fetus
Gene expression
Karyotype
Methylation
Pregnancy
Prenatal diagnosis
Receptor
Actin
Basic fibroblast growth factor
Biochemistry
Bioinformatics
Breakpoint
Cell biology
Cell-free fetal DNA
Characterization (materials science)
Chemistry
Cholesterol
Cholestyramine
Chromatography