Deletions, not duplications or small mutations, are the predominante new mutations in the dystrophin gene von Zimowski, Janusz G, Pawelec, Magdalena, Purzycka, Joanna K, Szirkowiec, Walentyna, Zaremba, Jacek

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Small mutations in Duchenne/Becker muscular dystrophy in 164 unrelated Polish patients von Zimowski, Janusz G., Purzycka, Joanna, Pawelec, Magdalena, Ozdarska, Katarzyna, Zaremba, Jacek

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Novel point mutations in survival motor neuron 1 gene expand the spectrum of phenotypes observed in spinal muscular atrophy patients von Jędrzejowska, Maria, Gos, Monika, Zimowski, Janusz G, Kostera-Pruszczyk, Anna, Ryniewicz, Barbara, Hausmanowa-Petrusewicz, Irena

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A rare subclinical or mild type of Becker muscular dystrophy caused by a single exon 48 deletion of the dystrophin gene von Zimowski, Janusz G., Pilch, Jacek, Pawelec, Magdalena, Purzycka, Joanna K., Kubalska, Jolanta, Ziora-Jakutowicz, Karolina, Dudzińska, Magdalena, Zaremba, Jacek

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Multiplex ligation-dependent probe amplification (MLPA)--new possibilities of prenatal diagnosis von Massalska, Diana, Bijok, Julia, Zimowski, Janusz G, Jóźwiak, Anna, Jakiel, Grzegorz, Roszkowski, Tomasz

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Noninvasive prenatal diagnosis of trisomy 21, 18 and 13 using cell-free fetal DNA von Gorzelnik, Katarzyna, Bijok, Julia, Zimowski, Janusz G, Jakiel, Grzegorz, Roszkowski, Tomasz

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MLPA based detection of mutations in the dystrophin gene of 180 Polish families with Duchenne/Becker muscular dystrophy von Zimowski, Janusz G., Massalska, Diana, Holding, Mariola, Jadczak, Sylwia, Fidziańska, Elżbieta, Łusakowska, Anna, Kostera-Pruszczyk, Anna, Kamińska, Anna, Zaremba, Jacek

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Non-invasive prenatal diagnosis of the most common aneuploidies with cell-free fetal DNA in maternal serum--preliminary results von Bijok, Julia, Gorzelnik, Katarzyna, Massalska, Diana, Ilnicka, Alicja, Pawłowska, Barbara, Zimowski, Janusz G, Kucińska-Chahwan, Anna, Jakiel, Grzegorz, Roszkowski, Tomasz

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Hidden carriership of spinal muscular atrophy – implication for genetic canceling von Ozdarska, Katarzyna, Raniszewska, Agata, Beć, Marta, Zimowski, Janusz G

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Several mutations including two novel mutations of the glucose-6-phosphate dehydrogenase gene in Polish G6PD deficient subjects with chronic nonspherocytic hemolytic anemia, acute... von Jablonska-Skwiecinska, Ewa, Lewandowska, Irmina, Plochocka, Danuta, Topczewski, Jacek, Zimowski, Janusz G., Klopocka, Jolanta, Burzynska, Beata

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Noninvasive prenatal diagnosis of trisomy 21, 18 and 13 using cel – free fetal DNA von Gorzelnik, Katarzyna, Bijok, Julia, Jakiel, Grzegorz, Roszkowski, Tomasz, Zimowski, Janusz

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Kłopot w poradnictwie genetycznym von Zimowski, Janusz G.

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Prevalence of Arylsulfatase A Pseudodeficiency Allele in Metachromatic Leukodystrophy Patients from Poland von Ługowska, Agnieszka, Czartoryska, Barbara, Tylki-Szymańska, Anna, Bisko, Mariola, Zimowski, Janusz G., Berger, Johannes, Molzer, Brunhilde

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Noninvasive prenatal diagnosis of trisomy 21, 18 and 13 using cell-free fetal DNA von Gorzelnik, Katarzyna, Bijok, Julia, Zimowski, Janusz G, Jakiel, Grzegorz, Roszkowski, Tomasz

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Specificity of sterol-glucosylating enzymes from Sinapis alba and Physarum polycephalum von Wojciechowski, Zdzisław A., Zimowski, Jan, Zimowski, Janusz G., Łyżnik, Anna

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Arylsulfatase A pseudodeficiency--incidence in Poland von Czartoryska, B, Zimowski, J G, Bisko, M, Górska, D

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Erythrocyte Glucose-6-Phosphate Dehydrogenase Deficiency in Poland - a Study on the 563 and 1311 Mutations of the G6PD Gene von Jablońska-Skwiecińska, Ewa, Zimowski, Janusz G., Kłopocka, Jolanta, Bisko, Mariola, Hoffman-Zacharska, Dorota, Zaremba, Jacek

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Enzymatic synthesis of steryl 6′- o-acyl-β- D-glucosides in sinapis alba and some other plants von Zimowski, Janusz G., Wojciechowski, Zdzislaw A.

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