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- Coats' Plus: A Progressive Familial Syndrome of Bilateral Coats' Disease, Characteristic Cerebral Calcification, Leukoencephalopathy, Slow Pre- and Post-Natal Linear Growth and Defects of Bone Marrow and Integument
- Long‐term culture of skin biopsies: maintenance of fibroblast production and competency of reprogramming
- Case Report: Bi-allelic missense variant in the desmocollin 3 gene causes hypotrichosis and recurrent skin vesicles
- Roles of steroid sulfatase in brain and other tissues
- Woodhouse-Sakati syndrome: genotype–phenotype review and case of intra-familial heterogeneity
- Neuroimaging Findings in Congenital Biotinidase Deficiency: A Case Report
- Novel <i>ABCD1</i> Gene Mutation in Adrenomyeloneuropathy with Hypoplasia and Agenesis of the Corpus Callosum
- Stem Cells Applications in Regenerative Medicine and Disease Therapeutics
- Normal Fur Development and Sebum Production Depends on Fatty Acid 2-Hydroxylase Expression in Sebaceous Glands
- Biochemical and Structural Characteristics, Gene Regulation, Physiological, Pathological and Clinical Features of Lipocalin-Type Prostaglandin D2 Synthase as a Multifunctional Lipocalin
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