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Lack of guidelines and translational knowledge is hindering the implementation of psychiatric genetic counseling and testing within Europe - A multi-professional survey study.
Koido K, Malmgren CI, Pojskic L, Almos PZ, Bergen SE, Borg I, Božina N, Coviello DA, Degenhardt F, Ganoci L, Jensen UB, Durand-Lennad L, Laurent-Levinson C, McQuillin A, Navickas A, Pace NP, Paneque M, Rietschel M, Grigoroiu-Serbanescu M, Soller MJ, Suvisaari J, Utkus A, Van Assche E, Vissouze L, Zuckerman S, Chaumette B, Tammimies K. Koido K, et al. Among authors: pace np. Eur J Med Genet. 2023 Aug;66(8):104805. doi: 10.1016/j.ejmg.2023.104805. Epub 2023 Jul 3. Eur J Med Genet. 2023. PMID: 37406854 Free article.
Two novel GJA1 variants in oculodentodigital dysplasia.
Pace NP, Benoit V, Agius D, Grima MA, Parascandalo R, Hilbert P, Borg I. Pace NP, et al. Mol Genet Genomic Med. 2019 Sep;7(9):e882. doi: 10.1002/mgg3.882. Epub 2019 Jul 25. Mol Genet Genomic Med. 2019. PMID: 31347275 Free PMC article. Clinical Trial.
A novel SPINK5 donor splice site variant in a child with Netherton syndrome.
Mintoff D, Borg I, Vornweg J, Mercieca L, Merdzanic R, Numrich J, Aquilina S, Pace NP, Fischer J. Mintoff D, et al. Among authors: pace np. Mol Genet Genomic Med. 2021 Mar;9(3):e1611. doi: 10.1002/mgg3.1611. Epub 2021 Feb 3. Mol Genet Genomic Med. 2021. PMID: 33534181 Free PMC article.
49 results