Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Kazimierz, Kozłowski"'
Autor:
Anna Sowińska-Seidler, Paweł Sztromwasser, Katarzyna Zawadzka, Dawid Sielski, Ewelina Bukowska-Olech, Paweł Zawadzki, Kazimierz Kozłowski, Aleksander Jamsheer
Publikováno v:
Frontiers in Genetics, Vol 11 (2020)
BackgroundPyle disease is a rare autosomal recessive bone dysplasia characterized by the broadening of metaphyses with generalized cortical thinning. Homozygous truncating mutations in secreted frizzled-related protein 4 (SFRP4) were, to date, the on
Externí odkaz:
https://doaj.org/article/1aeedab42593478e92952aab1340f73e
Autor:
Kazimierz Kozłowski
Publikováno v:
Acta Medicorum Polonorum. 10:51-53
Artykuł stanowi autobiografię prof. Kazimierza Kozłowskiego, lekarza, światowego autorytetu w dziedzinie wad kostnych, zwłaszcza dysplazji, honorowego członka Polskiego Towarzystwa Genetyki Człowieka. Opisał m.in. 12 nieznanych wcześniej zes
Publikováno v:
Journal of the Institute of Brewing. 122:493-499
An isomerization process of the α-acids contained in hop extract (with magnesium oxide, potassium hydroxide and magnesium peroxide as catalysts at ambient temperature) was carried out. The influence of two factors (the amount of applied catalyst and
Autor:
Magdalena, Badura-Stronka, Dariusz, Mróz, Peter, Beighton, Sebastian, Łukawiecki, Katarzyna, Wicher, Anna, Latos-Bieleńska, Kazimierz, Kozłowski
Publikováno v:
Birth defects research. Part A, Clinical and molecular teratology. 103(6)
Lehmann et al., [2003, 2006] have documented two different substitutions at position 486 of the BMPR1B gene which resulted in a phenotype of brachydactyly A2 [MIM 112600] or brachydactyly C with symphalangism [MIM 113100].In this article we report a
Autor:
Kazimierz Kozlowski, Peter Beighton
The publication of a third edition after only five years confirms the widespread popularity of this book. Apart from the numerous additions and modifications consequent on the substantial expansion of knowledge in this field, the authors have further
Autor:
Claus-Peter Adler, Kazimierz Kozlowski
We welcome the publication of this volume, which discusses the diagnosis of bone tumours with particular reference to children and adolescents. As founder members of the International Skeletal Society we are delighted to learn that the book had its i
Publikováno v:
Przeglad lekarski. 63
Invasive CMV disease in transplanted organ recipients is a life threatening condition. CMV infection is also known risk factor for acute rejection and chronic allograft nephropathy. The risk of CMV infection in pediatric population is high, especiall
Autor:
Krzysztof, Szczałuba, Ewa, Obersztyn, Kazimierz, Kozłowski, Roberto, Ravazzolo, Bozena, Gołabek, Tadeusz, Mazurczak
Publikováno v:
Medycyna wieku rozwojowego. 9(2)
The Nail-Patella Syndrome (NPS) (OMIM: 161200) is an autosomal dominant disorder characterized by skeletal malformations, such as: patellar aplasia/ hypoplasia, iliac horns on X-ray as well as nail dysplasia, renal and ocular abnormalities. Mutations
Publikováno v:
Journal of Applied Toxicology. 3:269-271
A reversed-phase HPLC method for determination of 25-hydroxycholecalciferol (25-OH D3) in serum samples is described. The method involves extraction of 25-OH D3 with hexane, followed by differential resolubilization in acetonitrile. The sample is the
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