Biochemical characterization of mutant phenylalanine hydroxylase enzymes and correlation with clinical presentation in hyperphenylalaninaemic patients von Dobrowolski, S. F, Pey, A. L, Koch, R, Levy, H, Ellingson, C. C, Naylor, E. W, Martinez, A

Volltext

DNA methylation in the pathophysiology of hyperphenylalaninemia in the PAH(enu2) mouse model of phenylketonuria von Dobrowolski, S F, Lyons-Weiler, J, Spridik, K, Vockley, J, Skvorak, K, Biery, A

Volltext

Rapid, comprehensive screening of the human medium chain acyl-CoA dehydrogenase gene von McKinney, J.T, Longo, N, Hahn, S.H, Matern, D, Rinaldo, P, Strauss, A.W, Dobrowolski, S.F

Volltext

Methylome repatterning in a mouse model of Maternal PKU Syndrome von Dobrowolski, S.F., Lyons-Weiler, J., Biery, A., Spridik, K., Vockley, G., Kranik, E., Skvorak, K., Sultana, T.

Volltext

Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Mutations Identified by MS/MS-Based Prospective Screening of Newborns Differ from Those Observed in Patients with Clinical Symptoms: Iden... von Andresen, Brage Storstein, Dobrowolski, Steve F., O'Reilly, Linda, Muenzer, Joseph, McCandless, Shawn E., Frazier, Dianne M., Udvari, Szabolcs, Bross, Peter, Knudsen, Inga, Banas, Rick, Chace, Donald H., Engel, Paul, Naylor, Edwin W., Gregersen, Niels

Volltext

DNA microarray technology for neonatal screening von Dobrowolski, SF, Banas, RA, Naylor, EW, Powdrill, T, Thakkar, D

Volltext

Rapid beta-globin genotyping by multiplexing probe melting temperature and color von Herrmann, M G, Dobrowolski, S F, Wittwer, C T

Volltext

Base-pair neutral homozygotes can be discriminated by calibrated high-resolution melting of small amplicons von Gundry, Cameron N, Dobrowolski, Steven F, Martin, Y. Ranae, Robbins, Thomas C, Nay, Lyle M, Boyd, Nathan, Coyne, Thomas, Wall, Mikeal D, Wittwer, Carl T, Teng, David H.-F

Volltext

Detection and assignment of CYP21 mutations using peptide mass signature genotyping von Zeng, Xuemei, Witchel, Selma F, Dobrowolski, Steven F, Moulder, Peter V, Jarvik, Jonathan W, Telmer, Cheryl A

Volltext

Host conditioning and rejection monitoring in hepatocyte transplantation in humans von Soltys, Kyle A, Setoyama, Kentaro, Tafaleng, Edgar N, Soto Gutiérrez, Alejandro, Fong, Jason, Fukumitsu, Ken, Nishikawa, Taichiro, Nagaya, Masaki, Sada, Rachel, Haberman, Kimberly, Gramignoli, Roberto, Dorko, Kenneth, Tahan, Veysel, Dreyzin, Alexandra, Baskin, Kevin, Crowley, John J, Quader, Mubina A, Deutsch, Melvin, Ashokkumar, Chethan, Shneider, Benjamin L, Squires, Robert H, Ranganathan, Sarangarajan, Reyes-Mugica, Miguel, Dobrowolski, Steven F, Mazariegos, George, Elango, Rajavel, Stolz, Donna B, Strom, Stephen C, Vockley, Gerard, Roy-Chowdhury, Jayanta, Cascalho, Marilia, Guha, Chandan, Sindhi, Rakesh, Platt, Jeffrey L, Fox, Ira J

Volltext

Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population von Dobrowolski, S F, Heintz, C, Miller, T, Ellingson, Clinton, Ellingson, Clifford, Ozer, I, Gökçay, G, Baykal, T, Thöny, B, Demirkol, M, Blau, N

Volltext

Release from G1 growth arrest by transforming growth factor beta 1 requires cellular ras activity von Howe, P H, Dobrowolski, S F, Reddy, K B, Stacey, D W

Volltext

The adenovirus E1A protein overrides the requirement for cellular ras in initiating DNA synthesis von Stacey, D.W., Dobrowolski, S.F., Piotrkowski, A., Harter, M.L.

Volltext

Release from G1 growth arrest by transforming growth factor β1 requires cellular ras activity von HOWE, P. H, DOBROWOLSKI, S. F, REDDY, K. B, STACEY, D. W

Volltext

Real time PCR assays to detect common mutations in the biotinidase gene and application of mutational analysis to newborn screening for biotinidase deficiency von Dobrowolski, Steven F, Angeletti, Janine, Banas, Richard A, Naylor, Edwin W

Volltext

Analysis of Common Mutations in the Galactose-1-Phosphate Uridyl Transferase Gene: New Assays to Increase the Sensitivity and Specificity of Newborn Screening for Galactosemia von Dobrowolski, Steven F, Banas, Richard A, Suzow, Joseph G, Berkley, Michelle, Naylor, Edwin W

Volltext

Release from G sub(1) growth arrest by transforming growth factor beta 1 requires cellular ras activity von Howe, PH, Dobrowolski, S F, Reddy, K B, Stacey, D W

Volltext

FilmArray, an automated nested multiplex PCR system for multi-pathogen detection: development and application to respiratory tract infection von Poritz, Mark A, Blaschke, Anne J, Byington, Carrie L, Allen, Lindsay, Nilsson, Kody, Jones, David E, Thatcher, Stephanie A, Robbins, Thomas, Lingenfelter, Beth, Amiott, Elizabeth, Herbener, Amy, Daly, Judy, Dobrowolski, Steven F, Teng, David H-F, Ririe, Kirk M

Volltext

Fentanyl Family at the Mu-Opioid Receptor: Uniform Assessment of Binding and Computational Analysis von Lipiński, Piotr F J, Kosson, Piotr, Matalińska, Joanna, Roszkowski, Piotr, Czarnocki, Zbigniew, Jarończyk, Małgorzata, Misicka, Aleksandra, Dobrowolski, Jan Cz, Sadlej, Joanna

Volltext

An Infant with a Constellation of Biochemical Abnormalities von Phua, Yu Leng, Dobrowolski, Steven F

Volltext