M Krawczyński

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

Secular changes in body height and weight in children and adolescents in Poznan, Poland, between 1880 and 2000

M Krawczyński, Jenifer Walkowiak, Alicja Krzyżaniak · Acta Paediatrica · 2003 · 76 citations

Education, Human Development, Pediatrics +15

Current models of care for disorders of sex development – results from an International survey of specialist centres

Andreas Kyriakou, Arianne B. Dessens, Jillian Bryce et al. · Orphanet Journal of Rare Diseases · 2016 · 76 citations · Full text

Medicine, Endocrinology, Pediatrics +13

11p13 deletions can be more frequent than the PAX6 gene point mutations in Polish patients with aniridia

Anna Wawrocka, Agata Sikora, Łukasz Kuszel et al. · Journal of Applied Genetics · 2013 · 63 citations · Full text

Medicine, Genetics, Ophthalmology +15

Achromatopsia mutations target sequential steps of ATF6 activation

Wei‐Chieh Chiang, Priscilla Chan, Bernd Wissinger et al. · Proceedings of the National Academy of Sciences · 2016 · 61 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15