Resultados da busca - Bunyan, David

SAT-LB17 Triplication of SHOX Downstream Region in Mild Short Stature por Bunyan, David J, Gevers, Evelien F

Obter o texto integral Obter o texto integral

Detection of Partial Deletions of Y-chromosome AZFc in Infertile Men Using the Multiplex Ligation-dependent Probe Amplification Assay por Bunyan, David J., Callaway, Jonathan L.A., Laddach, Nadja

Obter o texto integral Obter o texto integral

Primary Clear Cell Microcystic Adenoma of the Sinonasal Cavity: Pathological or Fortuitous Association? por Cooper, Rosalin, Markham, Hannah, Theaker, Jeffery, Bateman, Adrian, Bunyan, David, Sommerlad, Matthew, Crawford, Gillian, Eccles, Diana

Obter o texto integral Obter o texto integral Obter o texto integral

Economic and Practical Factors in Diagnosing HNPCC Using Clinical Criteria, Immunohistochemistry and Microsatellite Instability Analysis por Pigatto, Francesca, Bateman, Adrian, Bunyan, David, Strike, Paul, Wilkins, Esta, Curtis, Claire, Duncan, Philippa, May, Denzil, Nugent, Karen, Eccles, Diana

Obter o texto integral Obter o texto integral Obter o texto integral

Genetic Sequencing of Pediatric Patients Identifies Mutations in Monogenic Inflammatory Bowel Disease Genes that Translate to Distinct Clinical Phenotypes por Ashton, James J., Mossotto, Enrico, Stafford, Imogen S., Haggarty, Rachel, Coelho, Tracy A.F., Batra, Akshay, Afzal, Nadeem A., Mort, Matthew, Bunyan, David, Beattie, Robert Mark, Ennis, Sarah

Obter o texto integral Obter o texto integral Obter o texto integral

Transmitted duplication of 8p23.1–8p23.2 associated with speech delay, autism and learning difficulties por Glancy, Mary, Barnicoat, Angela, Vijeratnam, Rajan, de Souza, Sharon, Gilmore, Joanne, Huang, Shuwen, Maloney, Viv K, Thomas, N Simon, Bunyan, David J, Jackson, Ann, Barber, John C K

Obter o texto integral Obter o texto integral Obter o texto integral

Characterization of SHOX Deletions in Léri-Weill Dyschondrosteosis (LWD) Reveals Genetic Heterogeneity and No Recombination Hotspots por Benito-Sanz, Sara, Gorbenko del Blanco, Darya, Huber, Céline, Thomas, N. Simon, Aza-Carmona, Miriam, Bunyan, David, Maloney, Vivienne, Argente, Jesús, Cormier-Daire, Valérie, Campos-Barros, Ángel, Heath, Karen E.

Obter o texto integral Obter o texto integral

Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease por Gast, Christine, Marinaki, Anthony, Arenas-Hernandez, Monica, Campbell, Sara, Seaby, Eleanor G., Pengelly, Reuben J., Gale, Daniel P., Connor, Thomas M., Bunyan, David J., Hodaňová, Kateřina, Živná, Martina, Kmoch, Stanislav, Ennis, Sarah, Venkat-Raman, G.

Obter o texto integral Obter o texto integral Obter o texto integral

Correction: Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance por Wai, Htoo A., Lord, Jenny, Lyon, Matthew, Gunning, Adam, Kelly, Hugh, Cibin, Penelope, Seaby, Eleanor G., Spiers-Fitzgerald, Kerry, Lye, Jed, Ellard, Sian, Thomas, N. Simon, Bunyan, David J., Douglas, Andrew G. L., Baralle, Diana

Obter o texto integral Obter o texto integral Obter o texto integral

Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance por Wai, Htoo A., Lord, Jenny, Lyon, Matthew, Gunning, Adam, Kelly, Hugh, Cibin, Penelope, Seaby, Eleanor G., Spiers-Fitzgerald, Kerry, Lye, Jed, Ellard, Sian, Thomas, N. Simon, Bunyan, David J., Douglas, Andrew G. L., Baralle, Diana

Obter o texto integral Obter o texto integral Obter o texto integral

Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators por Gestri, Gaia, Osborne, Robert J., Wyatt, Alexander W., Gerrelli, Dianne, Gribble, Susan, Stewart, Helen, Fryer, Alan, Bunyan, David J., Prescott, Katrina, Collin, J. Richard O., Fitzgerald, Tomas, Robinson, David, Carter, Nigel P., Wilson, Stephen W., Ragge, Nicola K.

Obter o texto integral Obter o texto integral Obter o texto integral

Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B) por Norman, Chelsea S., O’Gorman, Luke, Gibson, Jane, Pengelly, Reuben J., Baralle, Diana, Ratnayaka, J. Arjuna, Griffiths, Helen, Rose-Zerilli, Matthew, Ranger, Megan, Bunyan, David, Lee, Helena, Page, Rhiannon, Newall, Tutte, Shawkat, Fatima, Mattocks, Christopher, Ward, Daniel, Ennis, Sarah, Self, Jay E.

Obter o texto integral Obter o texto integral Obter o texto integral

Comparison of Mutation Profiles in the Duchenne Muscular Dystrophy Gene among Populations: Implications for Potential Molecular Therapies por López-Hernández, Luz Berenice, Gómez-Díaz, Benjamín, Luna-Angulo, Alexandra Berenice, Anaya-Segura, Mónica, Bunyan, David John, Zúñiga-Guzman, Carolina, Escobar-Cedillo, Rosa Elena, Roque-Ramírez, Bladimir, Ruano-Calderón, Luis Angel, Rangel-Villalobos, Héctor, López-Hernández, Julia Angélica, Estrada-Mena, Francisco Javier, García, Silvia, Coral-Vázquez, Ramón Mauricio

Obter o texto integral Obter o texto integral Obter o texto integral

A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project por Blakes, Alexander J. M., Wai, Htoo A., Davies, Ian, Moledina, Hassan E., Ruiz, April, Thomas, Tessy, Bunyan, David, Thomas, N. Simon, Burren, Christine P., Greenhalgh, Lynn, Lees, Melissa, Pichini, Amanda, Smithson, Sarah F., Taylor Tavares, Ana Lisa, O’Donovan, Peter, Douglas, Andrew G. L., Whiffin, Nicola, Baralle, Diana, Lord, Jenny

Obter o texto integral Obter o texto integral Obter o texto integral

Mutations in BMP4 Cause Eye, Brain, and Digit Developmental Anomalies: Overlap between the BMP4 and Hedgehog Signaling Pathways por Bakrania, Preeti, Efthymiou, Maria, Klein, Johannes C., Salt, Alison, Bunyan, David J., Wyatt, Alex, Ponting, Chris P., Martin, Angela, Williams, Steven, Lindley, Victoria, Gilmore, Joanne, Restori, Marie, Robson, Anthony G., Neveu, Magella M., Holder, Graham E., Collin, J Richard O., Robinson, David O., Farndon, Peter, Johansen-Berg, Heidi, Gerrelli, Dianne, Ragge, Nicola K.

Obter o texto integral Obter o texto integral Obter o texto integral

HIGH COLORECTAL AND LOW ENDOMETRIAL CANCER RISK IN EPCAM DELETION-POSITIVE LYNCH SYNDROME: A COHORT STUDY por Kempers, Marlies JE, Kuiper, Roland P, Ockeloen, Charlotte W, Chappuis, Pierre O, Hutter, Pierre, Rahner, Nils, Schackert, Hans K, Steinke, Verena, Holinski-Feder, Elke, Morak, Monika, Kloor, Matthias, Büttner, Reinhard, Verwiel, Eugene TP, van Krieken, J. Han, Nagtegaal, Iris D, Goossens, Monique, van der Post, Rachel S., Niessen, Renée C, Sijmons, Rolf H, Kluijt, Irma, Hogervorst, Frans BL, Leter, Edward M, Gille, Johan JP, Aalfs, Cora M, Redeker, Egbert JW, Hes, Frederik J, Tops, Carli MJ, van Nesselrooij, Bernadette PM, van Gijn, Marielle E, García, Encarna B Gómez, Eccles, Diana M, Bunyan, David J, Syngal, Sapna, Stoffel, Elena M, Culver, Julie O, Palomares, Melanie R, Graham, Tracy, Velsher, Lea, Papp, Janos, Oláh, Edith, Chan, Tsun L, Leung, Suet Y, van Kessel, Ad Geurts, Kiemeney, Lambertus ALM, Hoogerbrugge, Nicoline, Ligtenberg, Marjolijn JL

Obter o texto integral Obter o texto integral Obter o texto integral