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Research 931–960 of 1000+
- Salt-losing tubulopathy and chronic dermatitis
- Genetics and Pathophysiology of Congenital Adrenal Hyperplasia
- Clinical Snippets
- Clinical Snippets
- Genetic characterization of congenital defects in dogs : caudal dysplasia, ectodermal dysplasia and mucopolysaccharidosis VII
- Development of a mouse model for Hutchinson-Gilford progeria syndrome reveal defects in adult stem cell maintenance
- 457 Impact of alpha-melanocyte-stimulating hormone on mitochondrial function in human dermal fibroblasts
- Impaired Notch‐MKP‐1 signalling in hidradenitis suppurativa: an approach to pathogenesis by evidence from translational biology
- In vivo function of VDR in gene expression-VDR knock-out mice
- Chrousos syndrome: from molecular pathogenesis to therapeutic management
- Novel de novo pathogenic variant in the <i>ODC1</i> gene in a girl with developmental delay, alopecia, and dysmorphic features
- Aromatase deficiency in a male patient - Case report and review of the literature.
- More than One Gene Involved in Monilethrix: Intracellular but also Extracellular Players
- Riboflavin-responsive glutaryl CoA dehydrogenase deficiency
- Amelioration by Copper Supplementation of Mutant Gene Effects in the Crinkled Mouse
- Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis
- Exact, time-independent estimation of clone size distributions in normal and mutated cells
- Isolated autosomal recessive woolly hair/hypotrichosis: genetics, pathogenesis and therapies
- The Advances of Broad-Spectrum and Hot Anti-Coronavirus Drugs
- <i>In vivo</i> alteration of the keratin 17 gene in hair follicles by oligonucleotide‐directed gene targeting
- Masquerading of trichotillomania in a family with monilethrix
- Frontotemporal dementia with parkinsonism presenting as posterior cortical atrophy
- Genome-based analysis of the genetic pattern of black sheep in Qira sheep
- Hypotrichosis with Juvenile Macular Dystrophy in Saudi Arabia: A Case Report
- Successful plasmapheresis and immunoglobulin treatment for severe lipid storage myopathy: Doing the right thing for the wrong reason
- Deficient anterior pituitary with common variable immune deficiency (DAVID syndrome): a new case and literature reports
- The accelerated aging skin in rhino‐like SHJH<sup><i>hr</i></sup> mice
- A young male with kidney damage from genetic mitochondrial disease: case report and literature review
- Novel <i>RNF113A</i> Variant Underlying X‐Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother
- Short-term Efficacy of Tofacitinib, a JAK Inhibitor, in IFIH1-related Aicardi-Goutières Syndrome