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Birth Defects Research. Part A, Clinical and Molecular Teratology|February 17, 2016
Novel COL4A1 mutation in an infant with severe dysmorphic syndrome with schizencephaly, periventricular calcifications, and cataract resembling congenital infectionRobert Smigiel, Magdalena Cabala, Aleksandra Jakubiak, et al.
International Journal of Dermatology|September 12, 2014
Polymorphisms in nucleotide excision repair genes and basal cell carcinoma of the skinKarolina A Pesz, Andrzej Bieniek, Justyna Gil, et al.
Genes, Chromosomes & Cancer|November 6, 2012
A set of specific miRNAs is connected with murine and human gastric cancerAftab Ali Shah, Petra Leidinger, Christina Backes, et al.
Journal of Applied Genetics|January 7, 2015
A TMC1 (transmembrane channel-like 1) mutation (p.S320R) in a Polish family with hearing impairmentMohamed Ahamed Hassan, Aftab Ali Shah, Elzbieta Szmida, et al.
Tumour Biology : the Journal of the International Society for Oncodevelopmental Biology and Medicine|January 26, 2012
Assessment of chromosomal imbalances in CIMP-high and CIMP-low/CIMP-0 colorectal cancersJoanna Kozlowska, Pawel Karpinski, Elzbieta Szmida, et al.
American Journal of Medical Genetics. Part A|September 9, 2016
Further evidence for GRIN2B mutation as the cause of severe epileptic encephalopathyRobert Smigiel, Grazyna Kostrzewa, Joanna Kosinska, et al.
Cancer Epidemiology|April 13, 2010
Polymorphisms in methyl-group metabolism genes and risk of sporadic colorectal cancer with relation to the CpG island methylator phenotypePawel Karpinski, Aleksander Myszka, David Ramsey, et al.
Molecular Carcinogenesis|October 19, 2011
Assessment of three epigenotypes in colorectal cancer by combined bisulfite restriction analysisPawel Karpinski, Elzbieta Szmida, Blazej Misiak, et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology|November 24, 2012
Intermediate- and low-methylation epigenotypes do not correspond to CpG island methylator phenotype (low and -zero) in colorectal cancerPawel Karpinski, Michael Walter, Elzbieta Szmida, et al.
European Journal of Human Genetics : EJHG|June 15, 2018
Developmental epileptic encephalopathy with hypomyelination and brain atrophy associated with PTPN23 variants affecting the assembly of UsnRNPsRobert Smigiel, Gerd Landsberg, Maximilian Schilling, et al.
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