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Whole exome sequencing discloses heterozygous variants in the DNAJC21 and EFL1 genes but not in SRP54 in 6 out of 16 patients with Shwachman-Diamond Syndrome carrying biallelic SBDS mutations.
Morini J, Nacci L, Babini G, Cesaro S, Valli R, Ottolenghi A, Nicolis E, Pintani E, Maserati E, Cipolli M, Danesino C, Scotti C, Minelli A. Morini J, et al. Br J Haematol. 2019 May;185(3):627-630. doi: 10.1111/bjh.15594. Epub 2018 Sep 10. Br J Haematol. 2019. PMID: 30198570 Free article. No abstract available.
MODELLING γ-H2AX FOCI INDUCTION TO MIMIC LIMITATIONS IN THE SCORING TECHNIQUE.
Barbieri S, Baiocco G, Babini G, Morini J, Friedland W, Buonanno M, Grilj V, Brenner DJ, Ottolenghi A. Barbieri S, et al. Among authors: morini j. Radiat Prot Dosimetry. 2019 May 1;183(1-2):121-125. doi: 10.1093/rpd/ncy217. Radiat Prot Dosimetry. 2019. PMID: 30520984 Free PMC article.
98 results