検索結果 - Miho Ishida
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Multiple Congenital Melanocytic Nevi and Neurocutaneous Melanosis Are Caused by Postzygotic Mutations in Codon 61 of NRAS 著者: Veronica A. Kinsler, Anna Thomas, Miho Ishida, Neil Bulstrode, Sam Loughlin, Sandra Hing, Jane Chalker, Kathryn J. McKenzie, Sayeda Abu‐Amero, Olga Slater, Estelle Chanudet, Rodger Palmer, Deborah Morrogh, Philip Stanier, Eugene Healy, Neil J. Sebire, Gudrun E. Moore
出版事項 2013Artigo -
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The transcriptomic landscape of monosomy X (45,X) during early human fetal and placental development 著者: Jenifer P. Suntharalingham, Ignacio del Valle, Federica Buonocore, Sinead McGlacken‐Byrne, Tony Brooks, Olumide Ogunbiyi, Danielle Liptrot, Nathan Dunton, Gaganjit K. Madhan, Kate B. Metcalfe, Lydia Nel, Abigail R. Marshall, Miho Ishida, Neil J. Sebire, Gudrun E. Moore, Berta Crespo, Nita Solanky, Gerard S. Conway, John C. Achermann
出版事項 2025Artigo -
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The role and interaction of imprinted genes in human fetal growth 著者: Gudrun E. Moore, Miho Ishida, Charalambos Demetriou, Lara Al-Olabi, Lydia J. Leon, Anna Thomas, Sayeda Abu‐Amero, Jennifer M. Frost, Jaime L. Stafford, Chaoqun Yao, Andrew Duncan, Rachel Baigel, Marina Brimioulle, Isabel Iglesias‐Platas, Sophia Apostolidou, Reena Aggarwal, John C. Whittaker, Argyro Syngelaki, K. H. Nicolaides, Lesley Regan, David Monk, Philip Stanier
出版事項 2015Revisão -
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Genetic Analyses in Small-for-Gestational-Age Newborns 著者: Susanne E. Stalman, Nita Solanky, Miho Ishida, Cristina Alemán-Charlet, Sayeda Abu‐Amero, Mariëlle Alders, Lucas Alvizi, William Baird, Charalambos Demetriou, Peter Henneman, Chela James, Lia Knegt, Lydia J. Leon, Marcel M.A.M. Mannens, Adi N Mul, Nicole A Nibbering, Emma Peskett, Faisal I. Rezwan, Carrie Ris‐Stalpers, Joris van der Post, Gerdine A. Kamp, Frans B. Plötz, Jan M. Wit, Philip Stanier, Gudrun E. Moore, Raoul C. M. Hennekam
出版事項 2018Artigo -
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Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate 著者: Elisabeth Mangold, Anne C. Böhmer, Nina Ishorst, Ann‐Kathrin Hoebel, Pınar Gültepe, Hannah Schuenke, Johanna Klamt, Andrea Hofmann, Lina Gölz, Ruth Raff, Peter Teßmann, Stefanie Nowak, Heiko Reutter, Alexander Hemprich, Thomas Kreusch, Franz‐Josef Kramer, Bert Braumann, Rudolf H. Reich, Gül Schmidt, Andreas Jäger, Rudolf Reiter, Sibylle Brosch, Janis Stavusis, Miho Ishida, Rimante Seselgyte, Gudrun E. Moore, Markus M. Nöthen, Guntram Borck, Khalid Aldhorae, Baiba Lāce, Philip Stanier, Michael Knapp, Kerstin U. Ludwig
出版事項 2016Artigo -
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Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome 著者: Anna Thomas, Hywel Williams, Núria Setó‐Salvia, Chiara Bacchelli, Dagan Jenkins, Mary E. O’Sullivan, Konstantinos Mengrelis, Miho Ishida, Louise Ocaka, Estelle Chanudet, Chela James, Francesco Lescai, Glenn Anderson, Deborah Morrogh, Mina Ryten, Andrew Duncan, Yun Jin Pai, Jorge Saraiva, Fabiana Ramos, Bernadette Farren, Dawn E. Saunders, Bertrand Vernay, Paul Gissen, Anna Straatmaan-Iwanowska, Frank Baas, Nicholas Wood, Joshua Hersheson, Henry Houlden, Jane A. Hurst, Richard H. Scott, Maria Bitner‐Glindzicz, Gudrun E. Moore, Sérgio B. Sousa, Philip Stanier
出版事項 2014Artigo
関連主題
Biology
Genetics
Gene
DNA methylation
Gene expression
Medicine
Pregnancy
Fetus
Genomic imprinting
Allele
Biochemistry
Chemistry
Chondroitin
Chondroitin sulfate
Endocrinology
Epigenetics
Glycosaminoglycan
Imprinting (psychology)
Molecular biology
Mutation
Placenta
Andrology
Aneuploidy
Ataxia
Bioinformatics
Cancer research
Cell biology
Cell culture
Cerebellar ataxia
Chromosome