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Research 451–480 of 1000+
- Familial Uncombable Hair Syndrome: Ultrastructural Hair Study and Response to Biotin
- Ocular aspects in biotinidase deficiency Clinical and genetic original studies
- Recessive Mutation in FAM83G Associated with Palmoplantar Keratoderma and Exuberant Scalp Hair
- Description of clinical aspects and microscopy of the hair shaft of a carrier of familial monilethrix
- Clouston Syndrome: Report of a Jordanian Family with GJB6 Gene Mutation
- An unusual presentation of vitamin D dependent rickets type 2 with low 25 (OH) D3 levels and alopecia: a case report of two siblings
- Scd1 ab-Xyk : a new asebia allele characterized by a CCC trinucleotide insertion in exon 5 of the stearoyl-CoA desaturase 1 gene in mouse
- Pili Annulati: A case series and proposal for classification
- Moniletherix
- 증례 : 모발의 황 농도 감소를 보인 모발유황이영양증
- Netherton Syndrome Associated with Growth Hormone Deficiency
- 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
- Further Insights in Trichothiodistrophy: A Clinical, Microscopic, and Ultrastructural Study of 20 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
- Buschke-Ollendorff syndrome
- 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
- FOXN1 deficient nude severe combined immunodeficiency
- Recurrent missense mutations in the hair keratin gene hHb6 in monilethrix