Rezultati pretrage - Cole, Trevor

The evolving therapeutic landscape of genetic skeletal disorders od Sabir, Ataf Hussain, Cole, Trevor

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The Impact of Cell-Free DNA Analysis on the Management of Retinoblastoma od Gerrish, Amy, Jenkinson, Helen, Cole, Trevor

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Carpal tunnel syndrome in paediatric patients: A novel association with Kosaki overgrowth syndrome od Walker, Harriet, Foster, Alison, Cole, Trevor, Jester, Andrea

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Family history in primary care: understanding GPs' resistance to clinical genetics — qualitative study od Mathers, Jonathan, Greenfield, Sheila, Metcalfe, Alison, Cole, Trevor, Flanagan, Sarah, Wilson, Sue

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A novel PCFT gene mutation (p.Cys66LeufsX99) causing hereditary folate malabsorption od Meyer, Esther, Kurian, Manju A., Pasha, Shanaz, Trembath, Richard C., Cole, Trevor, Maher, Eamonn R.

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Similar Splice-Site Mutations of the ATP7A Gene Lead to Different Phenotypes: Classical Menkes Disease or Occipital Horn Syndrome od Møller, Lisbeth Birk, Tümer, Zeynep, Lund, Connie, Petersen, Carsten, Cole, Trevor, Hanusch, Ralf, Seidel, Jürg, Jensen, Lars Riff, Horn, Nina

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Non‐invasive prenatal diagnosis of Duchenne and Becker muscular dystrophies by relative haplotype dosage od Parks, Michael, Court, Samantha, Cleary, Siobhan, Clokie, Samuel, Hewitt, Julie, Williams, Denise, Cole, Trevor, MacDonald, Fiona, Griffiths, Mike, Allen, Stephanie

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Non-invasive prenatal diagnosis of spinal muscular atrophy by relative haplotype dosage od Parks, Michael, Court, Samantha, Bowns, Benjamin, Cleary, Siobhan, Clokie, Samuel, Hewitt, Julie, Williams, Denise, Cole, Trevor, MacDonald, Fiona, Griffiths, Mike, Allen, Stephanie

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Clinical Service Delivery of Noninvasive Prenatal Diagnosis by Relative Haplotype Dosage for Single-Gene Disorders od Young, Elizabeth, Bowns, Benjamin, Gerrish, Amy, Parks, Michael, Court, Samantha, Clokie, Samuel, Mashayamombe-Wolfgarten, Chipo, Hewitt, Julie, Williams, Denise, Cole, Trevor, Allen, Stephanie

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NSD1 Mutations Are the Major Cause of Sotos Syndrome and Occur in Some Cases of Weaver Syndrome but Are Rare in Other Overgrowth Phenotypes od Douglas, Jenny, Hanks, Sandra, Temple, I. Karen, Davies, Sally, Murray, Alexandra, Upadhyaya, Meena, Tomkins, Susan, Hughes, Helen E., Cole, Trevor R. P., Rahman, Nazneen

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Non-invasive diagnosis of retinoblastoma using cell-free DNA from aqueous humour od Gerrish, Amy, Stone, Edward, Clokie, Samuel, Ainsworth, John R, Jenkinson, Helen, McCalla, Maureen, Hitchcott, Carol, Colmenero, Isabel, Allen, Stephanie, Parulekar, Manoj, Cole, Trevor

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PHOX2B Genotype Allows for Prediction of Tumor Risk in Congenital Central Hypoventilation Syndrome od Trochet, Delphine, O’Brien, Louise M., Gozal, David, Trang, Ha, Nordenskjöld, Agneta, Laudier, Béatrice, Svensson, Pär-Johan, Uhrig, Sabine, Cole, Trevor, Munnich, Arnold, Gaultier, Claude, Lyonnet, Stanislas, Amiel, Jeanne

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Non-Invasive Prenatal Diagnosis of Retinoblastoma Inheritance by Combined Targeted Sequencing Strategies od Gerrish, Amy, Bowns, Benjamin, Mashayamombe-Wolfgarten, Chipo, Young, Elizabeth, Court, Samantha, Bott, Joshua, McCalla, Maureen, Ramsden, Simon, Parks, Michael, Goudie, David, Carless, Sue, Clokie, Samuel, Cole, Trevor, Allen, Stephanie

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The Shwachman–Bodian–Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type od Nishimura, Gen, Nakashima, Eiji, Hirose, Yuichiro, Cole, Trevor, Cox, Phillip, Cohn, Daniel H, Rimoin, David L, Lachman, Ralph S, Miyamoto, Yoshinari, Kerr, Bronwyn, Unger, Sheila, Ohashi, Hirofumi, Superti‐Furga, Andrea, Ikegawa, Shiro

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Genotype-Phenotype Associations in Sotos Syndrome: An Analysis of 266 Individuals with NSD1 Aberrations od Tatton-Brown, Katrina, Douglas, Jenny, Coleman, Kim, Baujat, Geneviève, Cole, Trevor R. P., Das, Soma, Horn, Denise, Hughes, Helen E., Temple, I. Karen, Faravelli, Francesca, Waggoner, Darrel, Türkmen, Seval, Cormier-Daire, Valérie, Irrthum, Alexandre, Rahman, Nazneen

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Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability od Tatton-Brown, Katrina, Loveday, Chey, Yost, Shawn, Clarke, Matthew, Ramsay, Emma, Zachariou, Anna, Elliott, Anna, Wylie, Harriet, Ardissone, Anna, Rittinger, Olaf, Stewart, Fiona, Temple, I. Karen, Cole, Trevor, Mahamdallie, Shazia, Seal, Sheila, Ruark, Elise, Rahman, Nazneen

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Exome Sequencing Identifies CCDC8 Mutations in 3-M Syndrome, Suggesting that CCDC8 Contributes in a Pathway with CUL7 and OBSL1 to Control Human Growth od Hanson, Dan, Murray, Philip G., O'Sullivan, James, Urquhart, Jill, Daly, Sarah, Bhaskar, Sanjeev S., Biesecker, Leslie G., Skae, Mars, Smith, Claire, Cole, Trevor, Kirk, Jeremy, Chandler, Kate, Kingston, Helen, Donnai, Dian, Clayton, Peter E., Black, Graeme C.M.

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Hypothalamic Reproductive Endocrine Pulse Generator Activity Independent of Neurokinin B and Dynorphin Signaling od Lippincott, Margaret F, León, Silvia, Chan, Yee-Ming, Fergani, Chrysanthi, Talbi, Rajae, Farooqi, I Sadaf, Jones, Christopher M, Arlt, Wiebke, Stewart, Susan E, Cole, Trevor R, Terasawa, Ei, Hall, Janet E, Shaw, Natalie D, Navarro, Victor M, Seminara, Stephanie Beth

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Functional Consequences of Seven Novel Mutations in the CYP11B1 Gene: Four Mutations Associated with Nonclassic and Three Mutations Causing Classic 11β-Hydroxylase Deficiency od Parajes, Silvia, Loidi, Lourdes, Reisch, Nicole, Dhir, Vivek, Rose, Ian T., Hampel, Rainer, Quinkler, Marcus, Conway, Gerard S., Castro-Feijóo, Lidia, Araujo-Vilar, David, Pombo, Manuel, Dominguez, Fernando, Williams, Emma L., Cole, Trevor R., Kirk, Jeremy M., Kaminsky, Elke, Rumsby, Gill, Arlt, Wiebke, Krone, Nils

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Phenotypic Spectrum in Osteogenesis Imperfecta Due to Mutations in TMEM38B: Unraveling a Complex Cellular Defect od Webb, Emma A., Balasubramanian, Meena, Fratzl-Zelman, Nadja, Cabral, Wayne A., Titheradge, Hannah, Alsaedi, Atif, Saraff, Vrinda, Vogt, Julie, Cole, Trevor, Stewart, Susan, Crabtree, Nicola J., Sargent, Brandi M., Gamsjaeger, Sonja, Paschalis, Eleftherios P., Roschger, Paul, Klaushofer, Klaus, Shaw, Nick J., Marini, Joan C., Högler, Wolfgang

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