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Page 1
Characterization of a de novo translocation t(5;18)(q33.1;q12.1) in an autistic boy identifies a breakpoint close to SH3TC2, ADRB2, and HTR4 on 5q, and within the desmocollin gene cluster on 18q.
Vincent JB, Noor A, Windpassinger C, Gianakopoulos PJ, Schwarzbraun T, Alfred SE, Stachowiak B, Scherer SW, Roberts W, Wagner K, Kroisel PM, Petek E. Vincent JB, et al. Among authors: stachowiak b. Am J Med Genet B Neuropsychiatr Genet. 2009 Sep 5;150B(6):817-26. doi: 10.1002/ajmg.b.30903. Am J Med Genet B Neuropsychiatr Genet. 2009. PMID: 19086034
Sequence variants within exon 1 of MECP2 occur in females with mental retardation.
Harvey CG, Menon SD, Stachowiak B, Noor A, Proctor A, Mensah AK, Mnatzakanian GN, Alfred SE, Guo R, Scherer SW, Kennedy JL, Roberts W, Srivastava AK, Minassian BA, Vincent JB. Harvey CG, et al. Among authors: stachowiak b. Am J Med Genet B Neuropsychiatr Genet. 2007 Apr 5;144B(3):355-60. doi: 10.1002/ajmg.b.30425. Am J Med Genet B Neuropsychiatr Genet. 2007. PMID: 17171659
A translocation t(6;7)(p11-p12;q22) associated with autism and mental retardation: localization and identification of candidate genes at the breakpoints.
Vincent JB, Choufani S, Horike S, Stachowiak B, Li M, Dill FJ, Marshall C, Hrynchak M, Pewsey E, Ukadike KC, Friedman JM, Srivastava AK, Scherer SW. Vincent JB, et al. Among authors: stachowiak b. Psychiatr Genet. 2008 Jun;18(3):101-9. doi: 10.1097/YPG.0b013e3282f97df7. Psychiatr Genet. 2008. PMID: 18496206
Addendum. CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa.
Noor A, Windpassinger C, Patel M, Stachowiak B, Mikhailov A, Azam M, Irfan M, Paterson AD, Lutufullah M, Doherty D, Vincent JB, Ayub M. Noor A, et al. Among authors: stachowiak b. Am J Hum Genet. 2008 Nov;83(5):656. doi: 10.1016/j.ajhg.2008.10.005. Am J Hum Genet. 2008. PMID: 19068953 Free PMC article. No abstract available.
Non- and low-alcoholic beer - popularity and manufacturing techniques.
Kozłowski R, Dziedziński M, Stachowiak B, Kobus-Cisowska J. Kozłowski R, et al. Among authors: stachowiak b. Acta Sci Pol Technol Aliment. 2021 Jul-Sep;20(3):347-357. doi: 10.17306/J.AFS.0961. Acta Sci Pol Technol Aliment. 2021. PMID: 34304552
Multidisciplinary Studies of Folk Medicine "Five Thieves' Oil" (Olejek Pięciu Złodziei) Components.
Siejak P, Smułek W, Fathordobady F, Grygier A, Baranowska HM, Rudzińska M, Masewicz Ł, Jarzębska M, Nowakowski PT, Makiej A, Kazemian P, Drobnik P, Stachowiak B, Jarzębski M, Pratap-Singh A. Siejak P, et al. Among authors: stachowiak b. Molecules. 2021 May 14;26(10):2931. doi: 10.3390/molecules26102931. Molecules. 2021. PMID: 34069178 Free PMC article.
Astaxanthin for the Food Industry.
Stachowiak B, Szulc P. Stachowiak B, et al. Molecules. 2021 May 2;26(9):2666. doi: 10.3390/molecules26092666. Molecules. 2021. PMID: 34063189 Free PMC article. Review.
20 results