Associated Papers
Using multiple modalities to confirm diagnosis in patients with suspected peroxisome biogenesis disorders.
Cheung ACT et al.
Molecular Genetics and Metabolism, 2025
Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy.
Banks E et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
38352438 (PubMed )
Supplement: media-2.xlsx › Cohort_Raw_Data
Prenatal exome sequencing and impact on perinatal outcome: cohort study.
Poljak B et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2023
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