Prenatal diagnosis of congenital myopathies and muscular dystrophies von Massalska, D., Zimowski, J.G., Bijok, J., Kucińska-Chahwan, A., Łusakowska, A., Jakiel, G., Roszkowski, T.

Volltext

Maternal complications in molecularly confirmed diandric and digynic triploid pregnancies: single institution experience and literature review von Massalska, D., Bijok, J., Kucińska-Chahwan, A., Zimowski, J. G., Ozdarska, K., Raniszewska, A., Panek, G. M., Roszkowski, T.

Volltext

First-trimester spontaneous pregnancy loss - molecular analysis using multiplex ligation-dependent probe amplification von Zimowski, J. G., Massalska, D., Pawelec, M., Bijok, J., Michałowska, A., Roszkowski, T.

Volltext

P.1.j.029 Oxytocin system genes and social cognition in anorexia nervosa von Rybakowski, F, Biernacka, K, Zimowska, B, Zimowski, J, Kucharska-Pietrura, K

Volltext

G.P.96 The point mutations spectrum of survival motor neuron gene 1 ( SMN1 ) in Polish SMA patients lacking a homozygous SMN1 deletion von Jedrzejowska, M, Gos, M, Zimowski, J, Kostera-Pruszczyk, A, Ryniewicz, B, Hausmanowa-Petrusewicz, I

Volltext

Clinical Importance of aCGH in Genetic Counselling of Children with Psychomotor Retardation von Pasińska, Magdalena, Łazarczyk, Ewelina, Repczyńska, Anna, Sobczyńska-Tomaszewska, Agnieszka, Zimowski, Janusz, Runge, Agata, Haus, Olga

Volltext

The incidence of SMA in Poland von Jędrzejowska, M, Zimowski, J, Milewski, M, Kostera-Pruszczyk, A

Volltext

G.P.2.08 SMA frequency in Poland von Jedrzejowska, M, Zimowski, J, Sielska, D, Kostera-Pruszczyk, A, Milewski, M, Jurek, M, Hausmanowa-Petrusewicz, I

Volltext

Clinical Utility of MLPA and QF-PCR Techniques in the Genetic Testing of Miscarriages von Bernatowicz, K., Zimowski, J., Łaczmańska, I., Piotrowski, K., Kashyap, A., Bednarska-Makaruk, M., Sąsiadek, M., Gronwald, J.

Volltext

Characterization of UDP-galactose:tomatidine galactosyltransferase from tomato (Lycopersicon esculentum) leaves von Zimowski, J

Volltext

Phenotype modifiers of spinal muscular atrophy: the number of SMN2 gene copies, deletion in the NAIP gene and probably gender influence the course of the disease von Jedrzejowska, Maria, Milewski, Michał, Zimowski, Janusz, Borkowska, Janina, Kostera-Pruszczyk, Anna, Sielska, Danuta, Jurek, Marta, Hausmanowa-Petrusewicz, Irena

Volltext

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

Volltext

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

Volltext

Specificity and properties of UDP-galactose:tomatidine galactosyltransferase from tomato leaves von Zimowski, Jan

Volltext

Detection of deletions within the dystrophin gene in Polish families affected with Duchenne/Becker muscular dystrophy von Zimowski, J. G., Bisko, M. U., Fidziańska, E. J., Fidziańska, A. Z., Badurska, B., Niebrój-Dobosz, I., Koztowska, M., Hausmanowa-Petrusewicz, I., Zaremba, J. S.

Volltext

Deletion screening and carrier detection in Duchenne muscular dystrophy in Polish population via direct analysis of DNA and RNA transcripts von Kwiatkowska, J., Lisiecka, D., Sowinska, J., Marszal, E., Emich-Widera, E., Ciesielski, T., Szczególa-Przymusiak, A., Nuc, P., Chlebowska, H., Zimowski, J., Galas-Zgorzalewicz, B., Slonski, R.

Volltext

Specificity and some other properties of cytosolic and membranous udpglc: 3β-hydroxysteroid glucosyltransferases from Solanum tuberosum leaves von Zimowski, Jan

Volltext

Synthesis of gamma-chaconine and gamma-solanine are catalyzed in potato by two separate glycosyltransferases: UDP-glucose:solanidine glucosyltransferase and UDP-galactose:solanidin... von Zimowski, J

Volltext

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

Volltext

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

Volltext