Whole‐exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families von Hartley, T., Wagner, J.D., Warman‐Chardon, J., Tétreault, M., Brady, L., Baker, S., Tarnopolsky, M., Bourque, P.R., Parboosingh, J.S., Smith, C., McInnes, B., Innes, A.M., Bernier, F., Curry, C.J., Yoon, G., Horvath, G.A., Bareke, E., Gillespie, M., Majewski, J., Bulman, D.E., Dyment, D.A., Boycott, K.M.

Volltext

Lethal acantholytic epidermolysis bullosa due to a novel homozygous deletion in DSP: expanding the phenotype and implications for desmoplakin function in skin and heart von Bolling, M.C., Veenstra, M.J., Jonkman, M.F., Diercks, G.F.H., Curry, C.J., Fisher, J., Pas, H.H., Bruckner, A.L.

Volltext

Lethal acantholytic epidermolysis bullosa due to a novel homozygous deletion in DSP : expanding the phenotype and implications for desmoplakin function in skin and heart: LAEB due... von Bolling, M.C., Veenstra, M.J., Jonkman, M.F., Diercks, G.F.H., Curry, C.J., Fisher, J., Pas, H.H., Bruckner, A.L.

Volltext

A Low-Temperature Fabrication Method for WSe2 Films Grown from Nanocrystalline Precursors von Exstrom, Christopher L., Darveau, Scott A., Edgar, Joshua S., Curry, C.J., Hanrahan, Michael P., Ma, Qinglei, Hilfiker, Matthew, Ediger, Aaron, Ianno, Natale J.

Volltext

Apparent Triplication of Distal 1Q in a Child with Developmental Delay and Congenital Anomalies: The First Case of Tetrsomy 1Q42–44 von Clark, R.D., Curry, C.J., Drumheller, T.C.

Volltext

Delineation of Two Subtle Chromosome Duplications, 4P16 and 22Q11.2, in a Three-Generation Family with Mental Retardation by Fluorescent in Situ Hybridization and Array Comparative... von Curry, C.J., Cotter, P.D., Roeder, E.R., Delozier, C.D., Clark, R.D., Drumheller, T., Rauen, K.A.

Volltext

Noonan Syndrome and Cutaneous Findings without a Ptpn11 Mutation? Noonan Syndrome Ii von Curry, C.J., Airheart, C., Barnett, N., Tartaglia, M.

Volltext

A comparison of pyrolysis mass spectrometry, pyrolysis gas chromatography and infra-red spectroscopy for the analysis of paint resins von Burke, P., Curry, C.J., Davies, L.M., Cousins, D.R.

Volltext

ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria von Vetro, A., Nielsen, H.N., Holm, R., Hevner, R.F., Parrini, E., Powis, Z., Moller, R.S., Bellan, C., Simonati, A., Lesca, G., Helbig, K.L., Palmer, E.E., Mei, D., Ballardini, E., Haeringen, A. van, Syrbe, S., Leuzzi, V., Cioni, G., Curry, C.J., Costain, G., Santucci, M., Chong, K., Mancini, G.M.S., Clayton-Smith, J., Bigoni, S., Scheffer, I.E., Dobyns, W.B., Vilsen, B., Guerrini, R.

Volltext bestellen

Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2 von Zarate, Y.A, Bosanko, K.A, Thomas, M.A, Miller, D.T, Cusmano‐Ozog, K, Martinez‐Monseny, A, Curry, C.J, Graham, J.M, Velsher, L, Bekheirnia, M.R, Seidel, V, Dedousis, D, Mitchell, A.L, DiMarino, A.M, Riess, A, Balasubramanian, M, Fish, J.L, Caffrey, A.R, Fleischer, N, Pierson, T.M, Lacro, R.V

Volltext bestellen

Pigment Analysis in the Forensic Examination of Paints. I. Pigment Analysis by X-Ray Powder Diffraction von Curry, C.J., Rendle, D.F., Rogers, A.

Volltext

Pyrolysis-mass spectrometry studies of adhesives von Curry, C.J.

Volltext

Nucleotide sequence of the p10 polypeptide gene of Autographa californica nuclear polyhedrosis virus von Kuzio, J., Rohel, D.Z., Curry, C.J., Krebs, A., Carstens, E.B., Faulkner, P.

Volltext

Lethal acantholytic epidermolysis bullosa due to a novel homozygous deletion in DSP: expanding the phenotype and implications for desmoplakin function in skin and heart von Bolling, M.C., Veenstra, M.J., Jonkman, M.F., Diercks, G.F.H., Curry, C.J., Fisher, J., Pas, H.H., Bruckner, A.L.

Volltext

Applications of liquid chromatographic and spectroscopic methods for the characterisation of fatty acid anilides in contaminated cooking oils von Wheals, B.B., Whitehouse, M.J., Curry, C.J.

Volltext

Application of liquid chromatographic and spectroscopic methods for the characterisation of fatty acid anilides in contaminated cooking oils von Wheals, B.B, Whitehouse, M.J, Curry, C.J

Volltext

A survey of case-openers von Castle, D.A., Curry, C.J., Russell, L.W.

Volltext

Hydrotectonics of Grand Canyon Groundwater von Crossey, L.J, Karlstrom, K.E, Curry, B, McGibbon, C, Reed, C, Wilgus, J, Whyte, C.J, Darrah, T

Volltext

Whole–genome characterization of chemoresistant ovarian cancer von Patch, Ann-Marie, Christie, Elizabeth L., Etemadmoghadam, Dariush, Garsed, Dale W., George, Joshy, Fereday, Sian, Nones, Katia, Cowin, Prue, Alsop, Kathryn, Bailey, Peter J., Kassahn, Karin S., Newell, Felicity, Quinn, Michael C. J., Kazakoff, Stephen, Quek, Kelly, Wilhelm-Benartzi, Charlotte, Curry, Ed, Leong, Huei San, Hamilton, Anne, Mileshkin, Linda, Au-Yeung, George, Kennedy, Catherine, Hung, Jillian, Chiew, Yoke-Eng, Harnett, Paul, Friedlander, Michael, Quinn, Michael, Pyman, Jan, Cordner, Stephen, O’Brien, Patricia, Leditschke, Jodie, Young, Greg, Strachan, Kate, Waring, Paul, Azar, Walid, Mitchell, Chris, Traficante, Nadia, Hendley, Joy, Thorne, Heather, Shackleton, Mark, Miller, David K., Arnau, Gisela Mir, Tothill, Richard W., Holloway, Timothy P., Semple, Timothy, Harliwong, Ivon, Nourse, Craig, Nourbakhsh, Ehsan, Manning, Suzanne, Idrisoglu, Senel, Bruxner, Timothy J. C., Christ, Angelika N., Poudel, Barsha, Holmes, Oliver, Anderson, Matthew, Leonard, Conrad, Lonie, Andrew, Hall, Nathan, Wood, Scott, Taylor, Darrin F., Xu, Qinying, Fink, J. Lynn, Waddell, Nick, Drapkin, Ronny, Stronach, Euan, Gabra, Hani, Brown, Robert, Jewell, Andrea, Nagaraj, Shivashankar H., Markham, Emma, Wilson, Peter J., Ellul, Jason, McNally, Orla, Doyle, Maria A., Vedururu, Ravikiran, Stewart, Collin, Lengyel, Ernst, Pearson, John V., Waddell, Nicola, deFazio, Anna, Grimmond, Sean M., Bowtell, David D. L.

Volltext

APOBEC mutagenesis, kataegis, chromothripsis in EGFR-mutant osimertinib-resistant lung adenocarcinomas von Selenica, P., Marra, A., Choudhury, N.J., Gazzo, A., Falcon, C.J., Patel, J., Pei, X., Zhu, Y., Ng, C.K.Y., Curry, M., Heller, G., Zhang, Y.-K., Berger, M.F., Ladanyi, M., Rudin, C.M., Chandarlapaty, S., Lovly, C.M., Reis-Filho, J.S., Yu, H.A.

Volltext