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Research 601–630 of 1000+
- 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
- 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
- FOXN1 deficient nude severe combined immunodeficiency
- 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
- Atrichia with papular lesions
- Vitamin D Dependent Rickets Type II with Alopecia
- LEKTI: Netherton Syndrome and Atopic Dermatitis
- 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
- 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
- Trichoscopy as a diagnostic tool in trichorrhexis invaginata and Netherton syndrome
- Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency epidemiology, etiopathogenesis, clinical presentation, treatment – a systematic review
- Clinical, Biochemical and Molecular Characteristics of Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
- Congenital Adrenal Hyperplasia
- Congenital Adrenal Hyperplasia
- Vesicle Formation and Follicular Root Sheath Separation in Mice Homozygous for Deleterious Alleles at the Balding (bal) Locus
- Vitamin D‐dependent rickets Type II with alopecia: two case reports and review of the literature
- Nonclassic congenital adrenal hyperplasia
- Cutaneous Ultrastructural Features of the Flaky Skin (<i>fsn</i>) Mouse Mutation
- Homozygous Deletion in CDH3 and Hypotrichosis With Juvenile Macular Dystrophy