Disease: Microcephaly cardiomyopathy
- <em>EPG5</em>-Related Disorder
- 1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients
- A nationwide survey of Vici syndrome in Japan
- A recurrent homozygous missense DPM3 variant leads to muscle and brain disease
- Biallelic pathogenic variants of PARS2 cause developmental and epileptic encephalopathy with spike-and-wave activation in sleep
- Cardiac RNase Z edited via CRISPR-Cas9 drives heart hypertrophy in Drosophila
- Cardiovascular anomalies in Seckel syndrome: report of two patients and review of the literature
- Clinical Presentation and Molecular Characterization of 3 Patients with Vici Syndrome: Two Novel Variants in the <em>EPG5</em> Gene
- Combined Oxidative Phosphorylation Deficiency Type-13 with Perinatal Presentation: A Case Report
- Disorders of Intracellular Cobalamin Metabolism
- Fatal Neonatal DOLK-CDG as a Rare Form of Syndromic Ichthyosis
- Neurodegeneration and Early Infantile Epilepsy Associated with ITPA Variants: A Case Series and Review of Literature
- Nicolaides-Baraitser syndrome in a patient with hypertrophic cardiomyopathy and <em>SMARCA2</em> gene deletion
- Novel phenotype of aortic root dilatation and late-onset metabolic decompensation in a patient with TMEM70 deficiency
- Nuclear lamins: Structure and function in mechanobiology
- Nuclear proteostasis imbalance in laminopathy-associated premature aging diseases
- Ophthalmic findings as clues for early diagnosis of Vici syndrome in a neonate
- Pontocerebellar hypoplasia associated with p.Arg183Trp homozygous variant in EXOSC1 gene: A case report
- Pyoderma gangrenosum in a patient with Dubowitz syndrome: a new comorbidity?
- Two Turkish patients with Primary Coenzyme Q10 Deficiency-7: case report and literature review
- Using deep long-read RNAseq in Alzheimer's disease brain to assess clinical relevance of RNA isoform diversity
- Using deep long-read RNAseq in Alzheimer's disease brain to assess medical relevance of RNA isoform diversity