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1.
Discordant cfDNA-NIPT result unraveling a trisomy 12 chronic lymphocytic leukemia in a 37 years old pregnant woman.
Prenat Diagn
; 42(8): 1000-1003, 2022 07.
Article
in English
| MEDLINE | ID: mdl-35506546
2.
Two unrelated cases with biallelic CHEK2 variants:a novel condition with constitutional chromosomal instability?
Eur J Hum Genet
; 31(4): 474-478, 2023 04.
Article
in English
| MEDLINE | ID: mdl-36529819
3.
A pathogenic variant in the FLCN gene presenting with pure dementia: is autophagy at the intersection between neurodegeneration and cancer?
Front Neurosci
; 17: 1304080, 2023.
Article
in English
| MEDLINE | ID: mdl-38249578
4.
Congenital Defects in a Patient Carrying a Novel Homozygous AEBP1 Variant: Further Expansion of the Phenotypic Spectrum of Ehlers-Danlos Syndrome Classical-like Type 2?
Genes (Basel)
; 13(12)2022 12 14.
Article
in English
| MEDLINE | ID: mdl-36553625
5.
True conversions from RAS mutant to RAS wild-type in circulating tumor DNA from metastatic colorectal cancer patients as assessed by methylation and mutational signature.
Cancer Lett
; 507: 89-96, 2021 06 01.
Article
in English
| MEDLINE | ID: mdl-33744389
6.
Clinical and molecular characterization of a boy with intellectual disability, facial dysmorphism, minor digital anomalies and a complex IL1RAPL1 intragenic rearrangement.
Eur J Paediatr Neurol
; 20(6): 971-976, 2016 Nov.
Article
in English
| MEDLINE | ID: mdl-27470653
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