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Discordant cfDNA-NIPT result unraveling a trisomy 12 chronic lymphocytic leukemia in a 37 years old pregnant woman.
Prenat Diagn. 2022 Jul;42(8):1000-1003. doi: 10.1002/pd.6158. Epub 2022 May 7.
Prenat Diagn. 2022.
PMID: 35506546
Free PMC article.
Clinical and molecular characterization of a boy with intellectual disability, facial dysmorphism, minor digital anomalies and a complex IL1RAPL1 intragenic rearrangement.
Laino L, Bottillo I, Piedimonte C, Bernardini L, Torres B, Grammatico B, Bargiacchi S, Mulargia C, Calvani M, Cardona F, Castori M, Grammatico P.
Laino L, et al. Among authors: mulargia c.
Eur J Paediatr Neurol. 2016 Nov;20(6):971-976. doi: 10.1016/j.ejpn.2016.07.003. Epub 2016 Jul 11.
Eur J Paediatr Neurol. 2016.
PMID: 27470653
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Two unrelated cases with biallelic CHEK2 variants:a novel condition with constitutional chromosomal instability?
Bottillo I, Savino E, Majore S, Mulargia C, Valiante M, Ferraris A, Rossi V, Svegliati F, Ciccone MP, Brusco F, Grammatico B, Di Giacomo G, Bargiacchi S, D'Angelantonio D, Grammatico P.
Bottillo I, et al. Among authors: mulargia c.
Eur J Hum Genet. 2023 Apr;31(4):474-478. doi: 10.1038/s41431-022-01270-z. Epub 2022 Dec 19.
Eur J Hum Genet. 2023.
PMID: 36529819
Free PMC article.
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Application of the Cajal-De Castro method to the laser scanning confocal microscope in studying the peripheral nervous system.
Spiga S, Lallai L, Mulargia C, Loy F, Orrù F, Siddi A, Argiolas M, Serra GP.
Spiga S, et al. Among authors: mulargia c.
Ital J Anat Embryol. 1997 Jul-Sep;102(3):179-93.
Ital J Anat Embryol. 1997.
PMID: 9474910
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