Search Results - "Sztromwasser, P."

ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic? by Hikmat, O., Tzoulis, C., Knappskog, P. M., Johansson, S., Boman, H., Sztromwasser, P., Lien, E., Brodtkorb, E., Ghezzi, D., Bindoff, L. A.

“…Background and purpose Defects of coenzyme Q10 (CoQ10) metabolism cause a variety of disorders ranging from isolated myopathy to multisystem involvement. ADCK3…”
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1209P A new, whole-genome-based PARPi profiler (_ALICE) demonstrates unprecedented efficiency in patient selection for PARPi therapy by Zawadzki, P., Piotrowska, A., Wojtaszewska, M., Sztromwasser, P.

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15P Integration of whole genome data with machine learning technology in breast cancer subtyping by Majer-Burman, W., Pacewicz, K., Meler, M., Gniot, M., Sielski, D., Piernik, M., Sztromwasser, P., Wozna, A., Zawadzki, P.

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1082P Improved response prediction to immune checkpoint inhibitors by combining TMB and WGS-driven genomic features in NSCLC by Nawrocka-Muszyńska, P., Pacewicz, K., Mędzin, M., Sztromwasser, P., Dąbrowski, M., Sielski, D., Burman, W., Matkowski, R., Kasprzak, P., Szymański, S., Piernik, M., Woźna, A., Zawadzki, P.

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1134P Personalized medicine in advanced breast cancer: AI-driven genomic test for CDK4/6 treatment response prediction by Zawadzki, P., Woźna, A., Sztromwasser, P., Majer-Burman, W., Stępień, R., Pacewicz, K., Sielski, D., Gniot, M., Wojtaszewska, M., Dąbrowski, M., Piernik, M.

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WHOLE GENOME SEQUENCING REVEALS MOLECULAR HETEROGENEITY OF DIFFUSE B-CELL LYMPHOMAS IN CHILDREN WITH NIJMEGEN BREAKAGE SYNDROME by Pastorczak, A., Sztromwasser, P., Wojtaszewska, M., Madzio, J., Szmyd, B., Wypyszczak, K., Chrzanowski, J., Gregorek, H., Grajkowska, W., Wakulinska, A., Kuiper, R., Weijer, D., Krenova, Z., Mlynarski, W.

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A recombined allele of the lipase gene CEL and its pseudogene CELP confers susceptibility to chronic pancreatitis by Fjeld, Karianne, Weiss, Frank Ulrich, Lasher, Denise, Rosendahl, Jonas, Chen, Jian-Min, Johansson, Bente B, Kirsten, Holger, Ruffert, Claudia, Masson, Emmanuelle, Steine, Solrun J, Bugert, Peter, Cnop, Miriam, Grützmann, Robert, Mayerle, Julia, Mössner, Joachim, Ringdal, Monika, Schulz, Hans-Ulrich, Sendler, Matthias, Simon, Peter, Sztromwasser, Paweł, Torsvik, Janniche, Scholz, Markus, Tjora, Erling, Férec, Claude, Witt, Heiko, Lerch, Markus M, Njølstad, Pål R, Johansson, Stefan, Molven, Anders

“…Anders Molven and colleagues show that a recombined allele of the lipase gene CEL and its pseudogene CELP confers susceptibility to chronic pancreatitis. The…”
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ADCK 3 mutations with epilepsy, stroke‐like episodes and ataxia: a POLG mimic? by Hikmat, O., Tzoulis, C., Knappskog, P. M., Johansson, S., Boman, H., Sztromwasser, P., Lien, E., Brodtkorb, E., Ghezzi, D., Bindoff, L. A.

“…Background and purpose Defects of coenzyme Q10 (CoQ10) metabolism cause a variety of disorders ranging from isolated myopathy to multisystem involvement. ADCK…”
Get full text

077 - WHOLE GENOME SEQUENCING REVEALS MOLECULAR HETEROGENEITY OF DIFFUSE B-CELL LYMPHOMAS IN CHILDREN WITH NIJMEGEN BREAKAGE SYNDROME by Pastorczak, A., Sztromwasser, P., Wojtaszewska, M., Madzio, J., Szmyd, B., Wypyszczak, K., Chrzanowski, J., Gregorek, H., Grajkowska, W., Wakulinska, A., Kuiper, R., Weijer, D., Krenova, Z., Mlynarski, W.

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