Homozygous SMAD6 variants in two unrelated patients with craniosynostosis and radioulnar synostosis
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Journal of medical genetics - ISSN 0022-2593- (2024) p. 1-6
RUNX2-related metaphyseal dysplasia with maxillary hypoplasia : a rare skeletal disorder resembling SFRP4-related Pyle disease
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Clinical genetics - ISSN 0009-9163- (2023) p. 1-6
Genetic association analysis of 77,539 genomes reveals rare disease etiologies
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Nature medicine - ISSN 1078-8956-29 (2023) p. 679-688
Implementation of exome sequencing in prenatal diagnostics : chances and challenges
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Diagnostics - ISSN 2075-4418-13:5 (2023) p. 1-11
Heterozygous pathogenic variants involving CBFB cause a new skeletal disorder resembling cleidocranial dysplasia
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Journal of medical genetics - ISSN 0022-2593-60 (2023) p. 498-504