Malwina Czarny‐Ratajczak

Splicing Mutations of 54-bp Exons in the COL11A1 Gene Cause Marshall Syndrome, but Other Mutations Cause Overlapping Marshall/Stickler Phenotypes

Susanna Annunen, Jarmo Körkkö, Malwina Czarny‐Ratajczak et al. · The American Journal of Human Genetics · 1999 · 262 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

A Mutation in COL9A1 Causes Multiple Epiphyseal Dysplasia: Further Evidence for Locus Heterogeneity

Malwina Czarny‐Ratajczak, Jaana Lohiniva, Piotr Rogala et al. · The American Journal of Human Genetics · 2001 · 202 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Telomere maintenance genes SIRT1 and XRCC6 impact age-related decline in telomere length but only SIRT1 is associated with human longevity

Sangkyu Kim, Xiu-Hua Bi, Malwina Czarny‐Ratajczak et al. · Biogerontology · 2011 · 99 citations

Education, Genetics, Molecular Biology +15

Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: Description of 12 patients

Outi Mäkitie, Geert Mortier, Malwina Czarny‐Ratajczak et al. · American Journal of Medical Genetics Part A · 2003 · 69 citations

Medicine, Genetics, Molecular Genetics +14

Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations

Eveliina Jakkula, Outi Mäkitie, Malwina Czarny‐Ratajczak et al. · European Journal of Human Genetics · 2004 · 38 citations

Life Sciences, Genetics, Molecular Genetics +10