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Research 631–660 of 1000+
- Novel <i>KRT83</i> and <i>KRT86</i> mutations associated with monilethrix
- Trichothiodystrophy with Dysmyelination and Central Osteosclerosis
- Biochemical features of primary cells from a pediatric patient with a gain-of-function <i>ODC1</i> genetic mutation
- Dermatopathia Pigmentosa Reticularis: Report of a New Cases and Literature Review
- Trichothiodystrophy: Current Concepts
- GAPO syndrome – Report of a rare case and review
- Woodhouse-Sakati Syndrome: The New Genetic Variant of DCAF17 In 2 Adult Sisters
- Congenital erythropoietic porphyria five years observation with standard treatment: a case report
- Hutchinson-Gilford syndrome: History, causes, phenotype and research advances
- A Rare Case of Biotinidase Deficiancy
- Netherton Syndrome
- Biotinidase Deficiency: A Treatable Neurometabolic Disorder- A Case Report
- Trichothiodystrophy -A Case Report-
- Neonatal Ichthyosis and Sclerosing Cholangitis Syndrome
- Hair Shaft Videodermoscopy in Netherton Syndrome
- Recurrent missense mutations in the hair keratin gene hHb6 in monilethrix
- Atrichia with papular lesions resulting from a novel homozygous missense mutation in the hairless gene
- Ocular involvement caused by the accumulation of porphyrins in a patient with congenital erythropoietic porphyria
- Syndrome of Birt–Hogg–Dubé, a Histopathological Pitfall With Similarities to Tuberous Sclerosis
- Atrichia with papular lesions
- Superficial Epidermolytic Ichthyosis—Hypertrichosis as a Clue to Diagnosis
- Gene detection in a family with monilethrix and treatment with 5% topical minoxidil
- Vitamin D Dependent Rickets Type II with Alopecia
- Effect of calcium supplementation on bone deformity and histopathological findings of skin papules in a pediatric patient with vitamin D–dependent rickets type 2A: a case report
- Clouston’s Syndrome-A Case Report
- A Rare Case of Acrodermatitis Enteropathica in a One Year Old Child
- A rare case of Vitamin D dependent rickets type II: a case report
- ATRICHIA WITH PAPULAR LESIONS – A CASE REPORT
- Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa Simplex
- Hereditary mucoepithelial dysplasia: unique histopathological findings in skin lesions