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Page 1
Compound Heterozygote Mutation in the SMPD1 Gene Leading to Nieman-Pick Disease Type A.
Am J Case Rep. 2022 Nov 5;23:e937220. doi: 10.12659/AJCR.937220.
Am J Case Rep. 2022.
PMID: 36333862
Free PMC article.
De novo mutation in KITLG gene causes a variant of Familial Progressive Hyper- and Hypo-pigmentation (FPHH).
Gorenjak M, Fijačko N, Bogomir Marko P, Živanović M, Potočnik U.
Gorenjak M, et al. Among authors: zivanovic m.
Mol Genet Genomic Med. 2021 Dec;9(12):e1841. doi: 10.1002/mgg3.1841. Epub 2021 Oct 30.
Mol Genet Genomic Med. 2021.
PMID: 34716665
Free PMC article.
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Possible pitfalls in the diagnostic of progressive multifocal leukoencephalopathy.
Zivanovic M, Savšek L, Poljak M, Popovic M.
Zivanovic M, et al.
Clin Neuropathol. 2016 Mar-Apr;35(2):66-71. doi: 10.5414/NP300911.
Clin Neuropathol. 2016.
PMID: 26754416
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