Reproductive fitness in maternal homocystinuria due to cystathionine β‐synthase deficiency
Levy, H. L., Vargas, J. E., Waisbren, S. E., Kurczynski, T. W., Roeder, E. R., Schwartz, R. S., Rosengren, S., Prasad, C., Greenberg, C. R., Gilfix, B. M., MacGregor, D., Shih, V. E., Bao, L., Kraus, J. P.
Published in Journal of inherited metabolic disease (01.08.2002)
Published in Journal of inherited metabolic disease (01.08.2002)
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Refinement of the Region for Split Hand/Foot Malformation 5 on 2q31.1
Theisen, A., Rosenfeld, J.A., Shane, K., McBride, K.L., Atkin, J.F., Gaba, C., Hoo, J., Kurczynski, T.W., Schnur, R.E., Coffey, L.B., Zackai, E.H., Schimmenti, L., Friedman, N., Zabukovec, M., Ball, S., Pagon, R., Lucas, A., Brasington, C.K., Spence, J.E., Sparks, S., Banks, V., Smith, W., Friedberg, T., Wyatt, P.R., Aust, M., Tervo, R., Crowley, A., Skidmore, D., Lamb, A.N., Ravnan, B., Sahoo, T., Schultz, R., Torchia, B.S., Sgro, M., Chitayat, D., Shaffer, L.G.
Published in Molecular syndromology (01.05.2011)
Published in Molecular syndromology (01.05.2011)
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Journal Article
Clinical, cytogenetic, and molecular characterization of seven patients with deletions of chromosome 22q13.3
Nesslinger, N J, Gorski, J L, Kurczynski, T W, Shapira, S K, Siegel-Bartelt, J, Dumanski, J P, Cullen, Jr, R F, French, B N, McDermid, H E
Published in American journal of human genetics (01.03.1994)
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Published in American journal of human genetics (01.03.1994)
Journal Article
Improved growth and nutrition status in children with methylmalonic or propionic acidemia fed an elemental medical food
Yannicelli, Steven, Acosta, Phyllis B, Velazquez, Antonio, Bock, Hans-Georg, Marriage, Barbara, Kurczynski, Thaddeus W, Miller, Marvin, Korson, Mark, Steiner, Robert D, Rutledge, Lane, Bernstein, Laurie, Chinsky, Jeffrey, Galvin-Parton, Patricia, Arnold, Georgianne L
Published in Molecular genetics and metabolism (01.09.2003)
Published in Molecular genetics and metabolism (01.09.2003)
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Journal Article
Metabolic studies of carnitine in a child with propionic acidemia
KURCZYNSKI, T. W, HOPPEL, C. L, GOLDBLATT, P. J, GUNNING, W. T
Published in Pediatric research (01.07.1989)
Published in Pediatric research (01.07.1989)
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Journal Article
Head-upright tilt table testing in evaluation of recurrent, unexplained syncope
Grubb, Blair P., Orecchio, Edward, Kurczynski, Thaddeus W.
Published in Pediatric neurology (01.11.1992)
Published in Pediatric neurology (01.11.1992)
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Journal Article
Long-term l-carnitine treatment in isovaleric acidemia
Mayatepek, Ertan, Kurczynski, Thaddeus W., Hoppel, Charles L.
Published in Pediatric neurology (01.03.1991)
Published in Pediatric neurology (01.03.1991)
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Journal Article
A case of de novo trisomy 12p syndrome
Tayel, S, McCorquodale, M M, Rutherford, T, Kurczynski, T W, Abdel-Aziz, A M, el-Gabaldy, F, Sharaf, E A
Published in Clinical genetics (01.05.1989)
Published in Clinical genetics (01.05.1989)
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Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size
Shinawi, Marwan, Liu, Pengfei, Kang, Sung-Hae L, Shen, Joseph, Belmont, John W, Scott, Daryl A, Probst, Frank J, Craigen, William J, Graham, Brett H, Pursley, Amber, Clark, Gary, Lee, Jennifer, Proud, Monica, Stocco, Amber, Rodriguez, Diana L, Kozel, Beth A, Sparagana, Steven, Roeder, Elizabeth R, McGrew, Susan G, Kurczynski, Thaddeus W, Allison, Leslie J, Amato, Stephen, Savage, Sarah, Patel, Ankita, Stankiewicz, Pawel, Beaudet, Arthur L, Cheung, Sau Wai, Lupski, James R
Published in Journal of medical genetics (01.05.2010)
Published in Journal of medical genetics (01.05.2010)
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Journal Article
Elevated maternal serum alpha-fetoprotein values. How low is high?
Lenke, R R, Guerrieri, J, Nemes, J M, Kurczynski, T W, French, B, Gray, M, Schut, H, Ashwood, E R
Published in Journal of reproductive medicine (01.08.1989)
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Published in Journal of reproductive medicine (01.08.1989)
Journal Article
Carnitine deficiency associated with ornithine transcarbamylase deficiency
Mayatepek, Ertan, Kurczynski, Thaddeus W., Hoppel, Charles L., Gunning, William T.
Published in Pediatric neurology (01.05.1991)
Published in Pediatric neurology (01.05.1991)
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