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Research 961–990 of 1000+
- Central nervous system involvement in autoimmune polyglandular syndrome
- Two siblings with a novel nonsense mutation, p.R50X, in the vitamin D receptor gene
- Severe metabolic disorders coexisting with Werner syndrome: a case report
- Case Report:Pregnancy and birth in a mild phenotype of Alström syndrome
- Exploring the efficacy of testosterone undecanoate in male children with 5α‐reductase deficiency
- Congenital atrichia associated with situs inversus and mesocardia
- A Founder Mutation in the <i>POMC</i> 5′-UTR Causes Proopiomelanocortin Deficiency Through Splicing-Mediated Decrease of mRNA
- Collodion baby case series: the success of oral retinoic acid
- Dramatic Clinical Improvement With Biotin Mega‐Dose Therapy in a Neonate With Holocarboxylase Synthetase Deficiency
- Werner's syndrome: incidental finding during pregnancy
- Rare Coexistence of Monilethrix and Trichorrhexis Nodosa in a Pediatric Patient: A Case Report
- Netherton Syndrome With Trichorrhexis Invaginata “Bamboo Hair” Under Dermoscopy: Case Images
- Netherton Syndrome: A Case-Based Review of Diagnosis, Management, and Emerging Treatments.
- Enteropathica Acrodermatitis Complicated by Necrotising Fasciitis in an Infant Admitted to the Paediatric Emergency Department of the Gabriel Touré University Hospital
- A case report of a novel homozygote mutation causing severe Leydig cell hypoplasia: insights in the coexistence of nonsense mutation and polymorphism in the same LHCGR gene locus
- Two novel <i>BTD</i> mutations causing profound biotinidase deficiency in a Chinese patient
- Muir-torre syndrome in two families in Leicestershire, United Kingdom
- Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023)
- 494 Congenital generalized hypertrichosis with a copy number variation on chromosome 17q24
- Topical niacinamide 4% and desonide 0.05% for treatment of axillary hyperpigmentation: a randomized, double-blind, placebo-controlled study
- Congenital Adrenal Hyperplasia-Current Insights in Pathophysiology, Diagnostics, and Management.
- Biotinidase Deficiency: Prevalence, Impact And Management Strategies.
- New clinico‐genetic classification of trichothiodystrophy
- The nude gene and the skin
- Severe Skin Permeability Barrier Dysfunction in Knockout Mice Deficient in a Fatty Acid ω-Hydroxylase Crucial to Acylceramide Production
- Monilethrix: a typical case report with microscopic and dermatoscopic findings
- A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report
- High Frequency of Symptomatic Zinc Deficiency in Infants in Northern Ethiopia
- Vitamins and Alopecia
- RSPO1-mutated keratinocytes from palmoplantar keratoderma display impaired differentiation, alteration of cell–cell adhesion, EMT-like phenotype and invasiveness properties: implications for squamous cell carcinoma susceptibility in patients with 46XX disorder of sexual development