A heterozygous 9q34 deletion encompassing SPTAN1 as a cause of distal myopathy
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European journal of human genetics - ISSN 1018-4813- (2025) p.
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
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome
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The American journal of human genetics - ISSN 0002-9297-111:8 (2024) p. 1605-1625
The genetic puzzle of cerebral palsy : results of a monocentric study
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Pediatric neurology - ISSN 0887-8994-161 (2024) p. 1-8
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