Associated Papers
Exome Sequencing of Fetuses With Intracranial Hemorrhage Unravels Novel Causative Genes and an Extreme Genetic Heterogeneity.
Coste T et al.
Prenatal Diagnosis, 2025
39763161 (PubMed )
Supplement: supplement_1.docx
Unravelling genetic etiology of cerebral palsy: findings from a Slovenian pediatric cohort.
Arkar Silan U et al.
Frontiers in Neurology, 2025
Ile73Asn mutation in protein C introduces a new N-linked glycosylation site on the first EGF-domain of protein C and causes thrombosis.
Lu Y et al.
Haematologica, 2020
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