Associated Papers
Analysis of exome data in a UK cohort of 603 patients with syndromic orofacial clefting identifies causal molecular pathways.
Wilson K et al.
Human Molecular Genetics, 2023
37010288 (PubMed )
Supplement: supptables_hmg-2022-ce-00520-r1_wilson_without_id_ddad023.xlsx › S4
Congenital Diseases of DNA Replication: Clinical Phenotypes and Molecular Mechanisms.
Schmit M et al.
International Journal of Molecular Sciences, 2021
Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism.
Van Esch H et al.
American Journal of Human Genetics, 2019
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