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Research 25
- 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
- ABCD1 Gene Mutations: Mechanisms and Management of Adrenomyeloneuropathy
- Therapeutic effects of stem cells in different body systems, a novel method that is yet to gain trust: A comprehensive review
- Further Insights in Trichothiodistrophy: A Clinical, Microscopic, and Ultrastructural Study of 20 Cases and Literature Review
- New fluorogenic probes for neutral and alkaline ceramidases
- Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response
- Transient Ca2+ entry by plasmalogen-mediated activation of receptor potential cation channel promotes AMPK activity
- Ehlers-Danlos syndrome: From bedside to bench
- Hypomyelinating leukodystrophy-10 presenting with an additional atypical feature of increased body hair and Mongolian spots
- 2-Substituted 4-(Thio)chromenone 6-<i>O</i>-Sulfamates: Potent Inhibitors of Human Steroid Sulfatase
- Stem Cells Therapies in Basic Science and Translational Medicine: Current Status and Treatment Monitoring Strategies
- Characterization of tiger tail banding and hair shaft abnormalities in trichothiodystrophy
- Characteristics and migration patterns of selenium in soil, crops, and hair within a typical alkaline arid agricultural region of Northwest China
- Adrenoleukodystrophy: A Rare Case Report
- Drug Repurposing for Rare Diseases
- Uncombable hair in a case of Zellweger syndrome – A new association