A Variable Dinucleotide Repeat in the CFTR Gene Contributes to Phenotype Diversity by Forming RNA Secondary Structures That Alter Splicing von Hefferon, Timothy W., Groman, Joshua D., Yurk, Catherine E., Cutting, Garry R., McKusick, Victor A.

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A synonymous mutation in TCOF1 causes Treacher Collins syndrome due to mis-splicing of a constitutive exon von Macaya, D., Katsanis, S.H., Hefferon, T.W., Audlin, S., Mendelsohn, N.J., Roggenbuck, J., Cutting, G.R.

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Achondroplasia is defined by recurrent G380R mutations of FGFR3 von Bellus, G A, Hefferon, T W, Ortiz de Luna, R I, Hecht, J T, Horton, W A, Machado, M, Kaitila, I, McIntosh, I, Francomano, C A

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Localization of the achondroplasia gene to the distal 2.5 Mb of human chromosome 4p von FRANCOMANO, C. A, ORTIZ DE LUNA, R. I, HECHT, J. T, HEFFERON, T. W, BELLUS, G. A, TURNER, C. E, TAYLOR, E, MEYERS, D. A, HALLORAN BLANTON, S, MURRAY, J. C, MCINTOSH, I

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CFTR transcription defects in pancreatic sufficient cystic fibrosis patients with only one mutation in the coding region of CFTR von Sheridan, Molly B, Hefferon, Timothy W, Wang, Nulang, Merlo, Christian, Milla, Carlos, Borowitz, Drucy, Green, Eric D, Mogayzel, Peter J, Cutting, Garry R

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Variation in a Repeat Sequence Determines Whether a Common Variant of the Cystic Fibrosis Transmembrane Conductance Regulator Gene Is Pathogenic or Benign von Groman, Joshua D., Hefferon, Timothy W., Casals, Teresa, Bassas, Lluís, Estivill, Xavier, Des Georges, Marie, Guittard, Caroline, Koudova, Monika, Fallin, M. Daniele, Nemeth, Krisztina, Fekete, Gyorgy, Kadasi, Ludovit, Friedman, Ken, Schwarz, Martin, Bombieri, Cristina, Pignatti, Pier Franco, Kanavakis, Emmanuel, Tzetis, Maria, Schwartz, Marianne, Novelli, Giuseppe, D’Apice, Maria Rosaria, Sobczynska-Tomaszewska, Agnieszka, Bal, Jerzy, Stuhrmann, Manfred, Macek, Milan, Claustres, Mireille, Cutting, Garry R.

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The incidence of duplicate genetic testing von Riegert-Johnson, Douglas L., Macaya, Daniela, Hefferon, Timothy W., Boardman, Lisa A.

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Synonymous Mutation in TCOF1 Causes Treacher ollins Syndrome Due to Mis-Splicing of a onstitutive Exon von MACAYA, D, KATSANIS, S. H, HEFFERON, T. W, AUDLIN, S, MENDELSOHN, N. J, ROGGENBUCK, J, CUTTING, G. R

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Atypical 5′ Splice Sites Cause CFTR Exon 9 To Be Vulnerable to Skipping von Hefferon, Timothy W., Broackes-Carter, Fiona C., Harris, Ann, Cutting, Garry R.

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Achondroplasia is defined by recurrent G308R mutations of FGFR3 von BELLUS, G. A, HEFFERON, T. W, ORTIZ DE LUNA, R. I, HECHT, J. T, HORTON, W. A, MACHADO, M, KAITILA, I, MCINTOSH, I, FRANCOMANO, C. A

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Database resources of the National Center for Biotechnology Information von Sayers, Eric W, Agarwala, Richa, Bolton, Evan E, Brister, J Rodney, Canese, Kathi, Clark, Karen, Connor, Ryan, Fiorini, Nicolas, Funk, Kathryn, Hefferon, Timothy, Holmes, J Bradley, Kim, Sunghwan, Kimchi, Avi, Kitts, Paul A, Lathrop, Stacy, Lu, Zhiyong, Madden, Thomas L, Marchler-Bauer, Aron, Phan, Lon, Schneider, Valerie A, Schoch, Conrad L, Pruitt, Kim D, Ostell, James

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Custom-engineered hydrogels for delivery of human iPSC-derived neurons into the injured cervical spinal cord von Doulames, V M, Marquardt, L M, Hefferon, M E, Baugh, N J, Suhar, R A, Wang, A T, Dubbin, K R, Weimann, J M, Palmer, T D, Plant, G W, Heilshorn, S C

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Host Cell Receptor Binding by Baculovirus GP64 and Kinetics of Virion Entry von Hefferon, K.L., Oomens, A.G.P., Monsma, S.A., Finnerty, C.M., Blissard, G.W.

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Acquired pseudoxanthoma elasticum presenting after liver transplantation von Bercovitch, Lionel, MD, Martin, Ludovic, MD, PhD, Chassaing, Nicolas, MD, PhD, Hefferon, Timothy W., PhD, Bessis, Didier, MD, Vanakker, Olivier, MD, PhD, Terry, Sharon F., MA

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Plant-Based Cellulase Assay Systems as Alternatives for Synthetic Substrates von Hefferon, Kathleen, Cantero-Tubilla, Borja, Badar, Uzma, Wilson, David W.

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Localization of the achondroplasia gene to the distal 2. 5 Mb of human chromosome 4p von Francomano, Clalr A., de Luna, Rosa I. Ortiz, Hefferon, Timothy W., Bellus, Gary A., Turner, Caria E., Taylor, Eugene, Meyers, Deborah A., Blanton, Susan Halloran, Murray, Jeffrey C., Mclntosh, lain, Hecht, Jacqueline T.

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Reduction of RTA-driven intra-die variation via model-based layout optimization von Scott, J.C., Gluschenkov, O., Goplen, B., Landis, H., Nowak, E., Clougherty, F., Mocuta, A., Hook, T., Zamdmer, N., Lai, C.W., Eller, M., Chidambarrao, D., Yu, J., Chang, P., Ferris, J., Deshpande, S., Li, Y., Shang, H., Hefferon, G., Divakaruni, R., Crabbe, E., Chen, X.

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Dynamics and energetics of the singlet-triplet interconversion of diphenylcarbene von Eisenthal, K. B, Turro, N. J, Aikawa, M, Butcher, J. A, DuPuy, C, Hefferon, G, Hetherington, W, Korenowski, G. M, McAuliffe, M. J

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Current status of mapping studies in achondroplasia von Francomano, C.A., Ortiz de Luna, Rosa I., Hefferon, Timothy W., Bellus, Gary A., Blanton, Susan Halloran, Hecht, Jacqueline T., McIntosh, Iain

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Pneumatic piezometers: multiple and single installations in vertical and inclined boreholes von Deardorff, G. B, Lumsden, A. M, Hefferon, W. M

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