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Research 30 of 86
- Novel Mutation in Sjögren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes
- Sjogren-Larsson Syndrome
- Woodhouse-Sakati Syndrome Due to the Rare DCAF17 c.321+1G>A Mutation: The Second Case Report Worldwide
- A syndrome of congenital ichthyosis, mental retardation, myopathy and anemia in dizygotic twin sisters
- Severe Skin Permeability Barrier Dysfunction in Knockout Mice Deficient in a Fatty Acid ω-Hydroxylase Crucial to Acylceramide Production
- Epidermal mammalian target of rapamycin complex 2 controls lipid synthesis and filaggrin processing in epidermal barrier formation
- Expanding on the phenotypic spectrum of Woodhouse‐Sakati syndrome due to founder pathogenic variant in <i>DCAF17</i>: Report of 58 additional patients from Qatar and literature review
- Novel splicing‐site mutation in <i>DCAF17</i> gene causing Woodhouse‐Sakati syndrome in a large consanguineous family
- TONGUE, RED
- Human T‐lymphotropic virus 1 (HTLV‐1)‐associated lichenoid dermatitis induced by CD8<sup>+</sup> T cells in HTLV‐1 carrier, HTLV‐1‐associated myelopathy/tropical spastic paraparesis and adult T‐cell leukemia/lymphoma
- Novel <i>ABCD1</i> Gene Mutation in Adrenomyeloneuropathy with Hypoplasia and Agenesis of the Corpus Callosum
- An unusual presentation of X-linked adrenoleukodystrophy
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- [Striatal involvement on MRI in adrenomyeloneuropathy].
- P447: Late onset biotinidase deficiency misdiagnosed as neuromyelitis optica: A case report and review of diagnostic challenges
- Differential Gene Expression Screening Between Black and Gray Hairs Using Subtractive Library and DNA Chip
- The impact of radial extracorporeal shock wave therapy on the plantar flexor muscle in children with spasticity
- #1697882 "A" Vitamin to Consider: Refractory Hypercalcemia from Vitamin A Toxicity
- Micturitional disturbance in a patient with adrenomyeloneuropathy (AMN)
- Micturitional disturbance in a patient with adrenomyeloneuropathy (AMN)
- Diagnosed with primary adrenal insufficiency? search adrenoleukodystrophy-two brothers presented with similar phenotype
- Hyaluronic Acid Filler Injection as an Alternative to Surgery for the Correction of Canine Entropion
- The lowest effective dose of botulinum toxin in detrusor sphincter dyssynergia
- Folliculitis decalvans
- How to diagnose a lipodystrophy syndrome
- Disease-Modifying Therapy in Multiple Sclerosis: Strategies For Optimizing Management
- De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes
- Nutrition and the deleterious side effects of nutritional supplements
- Topical use of systemic drugs in dermatology: A comprehensive review
- Biotinidase deficiency characterized by skin and hair findings