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Research 511–540 of 1000+
- Type II Vitamin D Dependent Rickets: A Case Report
- Successful plasmapheresis and immunoglobulin treatment for severe lipid storage myopathy: Doing the right thing for the wrong reason
- Hereditary vitamin D resistant rickets (HVDRR) case series: phenotype, genotype, conventional treatment, and adjunctive cinacalcet therapy
- Perturbations in fatty acid metabolism and collagen production infer pathogenicity of a novel MBTPS2 variant in Osteogenesis imperfecta
- Netherton Syndrome in a 9-Month-Old Child: Unraveling a Complex Dermatologic Disorder
- Clinical analysis of 78 patients with non-classical 21-hydroxylase deficiency
- Case Report: Bi-allelic missense variant in the desmocollin 3 gene causes hypotrichosis and recurrent skin vesicles
- Woodhouse-Sakati Syndrome with Unique Unreported Previous Findings
- Developmental Genetics of Color Pattern Establishment in Cats
- Short-term Efficacy of Tofacitinib, a JAK Inhibitor, in IFIH1-related Aicardi-Goutières Syndrome
- To grow or not to grow: Hair morphogenesis and human genetic hair disorders
- Alopecia in Patients with Collagen VI-Related Myopathies: A Novel/Unrecognized Scalp Phenotype
- Protoporphyrin IX: the Good, the Bad, and the Ugly
- Keratin disorders: from gene to therapy
- 46,XY DSD due to impaired androgen production
- Spinal and bulbar muscular atrophy: pathogenesis and clinical management
- 5-Alpha reductase deficiency
- DMBA/TPA Treatment Is Necessary for BCC Formation from Patched Deficient Epidermal Cells in Ptch flox/flox CD4Cre +/− Mice
- A new locus for hereditary hypotrichosis simplex maps to chromosome 13q12.12∼12.3 in a Chinese family
- Le gène<i>hairless</i>de la souris
- Interplay between EDA-EDAR and WNT signalling pathways in the development of skin appendages in hypohidrotic ectodermal dysplasia
- Recalcitrant Female Pattern Hair Loss Like Alopecia Unveils Unexpected Rare Entity
- A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2
- Common genetic hair shaft abnormalities may be visualized by light and electron microscope
- Roles of <i>jumonji</i> and <i>jumonji</i> family genes in chromatin regulation and development
- Aging and Immortality: Quasi-Programmed Senescence and Its Pharmacologic Inhibition
- How to diagnose a lipodystrophy syndrome
- Inherited Disorders of the Hair
- Adrenal causes of endocrine hypertension in childhood or adolescence
- Androgen receptors and their biology