RNU4-2-related neurodevelopmental disorder is associated with a recognisable facial gestalt
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Clinical genetics - ISSN 0009-9163-107:1 (2025) p. 104-112
Monocentric study on the performance of noninvasive prenatal testing on cell-free DNA for the detection of monosomy X
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Prenatal diagnosis - ISSN 0197-3851-44:10 (2024) p. 1210-1217
Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes
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European journal of human genetics - ISSN 1018-4813- (2024) p.
The impact of confined placental mosaicism on prenatal cell-free DNA screening : insights from a monocentric study of 99 cases
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Placenta - ISSN 0143-4004-152 (2024) p. 17-22
Novel presentation of AADC deficiency as a mild phenotype with exercise-induced dystonic crises : a case report
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Heliyon - ISSN 2405-8440-10:1 (2024) p. 1-5