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Buława E
Publications - 2
Citations - 17
Buława E is an academic researcher. The author has contributed to research in topics: Restriction fragment length polymorphism & Chromosome 18. The author has an hindex of 2, co-authored 2 publications receiving 17 citations.
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Triple structural mosaicism of chromosome 18 in a child with MR/MCA syndrome and abnormal skin pigmentation.
TL;DR: A case of triple mosaicism involving chromosome 18 is described in a girl with abnormal skin pigmentation similar to hypomelanosis of Ito, illustrating a non-random association of chromosomal mosaicism with abnormalskin pigmentation.
Journal Article
[Use of molecular DNA probes in the diagnosis of mucoviscidosis-- analysis of restriction fragment length polymorphisms (RFLP) in 22 high-risk families].
TL;DR: DNA analysis proved fully informative in case of 17 families being a base to offer these families prenatal diagnosis of the disease in the I trimester of pregnancy, if such a family plans conception, and to accept this diagnostic technique.