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Molecular cytogenetics characterization of seven small supernumerary marker chromosomes derived from chromosome 19: Genotype-phenotype correlation and review of the literature.
Eur J Med Genet. 2018 Mar;61(3):173-180. doi: 10.1016/j.ejmg.2017.11.007. Epub 2017 Nov 23.
Eur J Med Genet. 2018.
PMID: 29174090
Review.
Genotype and residual enzyme activity in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: Are predictions possible?
Tucci S, Wagner C, Grünert SC, Matysiak U, Weinhold N, Klein J, Porta F, Spada M, Bordugo A, Rodella G, Furlan F, Sajeva A, Menni F, Spiekerkoetter U.
Tucci S, et al. Among authors: sajeva a.
J Inherit Metab Dis. 2021 Jul;44(4):916-925. doi: 10.1002/jimd.12368. Epub 2021 Feb 25.
J Inherit Metab Dis. 2021.
PMID: 33580884
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A new prognostic index of severity of intellectual disabilities in Cornelia de Lange syndrome.
Cereda A, Mariani M, Rebora P, Sajeva A, Ajmone PF, Gervasini C, Russo S, Kullmann G, Valsecchi G, Selicorni A.
Cereda A, et al. Among authors: sajeva a.
Am J Med Genet C Semin Med Genet. 2016 Jun;172(2):179-89. doi: 10.1002/ajmg.c.31494. Epub 2016 May 5.
Am J Med Genet C Semin Med Genet. 2016.
PMID: 27148700
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