Search Results - Howard R. Slater
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High-Resolution Identification of Chromosomal Abnormalities Using Oligonucleotide Arrays Containing 116,204 SNPs by Howard R. Slater, Dione K. Bailey, Hua Ren, Manqiu Cao, Katrina M. Bell, Steven Nasioulas, Robert Henke, K. H. Andy Choo, Giulia C. Kennedy
Published 2005Artigo -
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Methylation of novel markers of fragile X alleles is inversely correlated with FMRP expression and FMR1 activation ratio by 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
Published 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 by 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
Published 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 by 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
Published 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 by 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
Published 2013Revisão
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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