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Research 271–300 of 1000+
- A Homozygous Frameshift Mutation in the<i>HOXC13</i>Gene Underlies Pure Hair and Nail Ectodermal Dysplasia in a Syrian Family
- Novel and recurrent mutations in the <i>AIRE</i> gene of autoimmune polyendocrinopathy syndrome type 1 (APS1) patients
- <i>De novo</i> mutations in monilethrix
- Chromosomal Localization of Mouse Hair Keratin Genes<sup>a</sup>
- ABCD1 Gene Mutations: Mechanisms and Management of Adrenomyeloneuropathy
- Recessive Mutation in FAM83G Associated with Palmoplantar Keratoderma and Exuberant Scalp Hair
- Two novel <i>BTD</i> mutations causing profound biotinidase deficiency in a Chinese patient
- Skin transcriptomic and selection signature analyses identify ASIP as a key gene in cattle coat color determination
- Identification of the Keratin-Associated Protein 22-2 Gene in the Capra hircus and Association of Its Variation with Cashmere Traits
- Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family
- Netherton Syndrome: A Case-Based Review of Diagnosis, Management, and Emerging Treatments.
- 301 Whole exome sequencing in AA patients identifies a hotspot mutation in the type II hair keratin gene, KRT82
- Detection of Type IIHair Keratin Gene in a Family with Monilethrix
- Inherited Disorders of the Hair
- Analysis of hidradenitis suppurativa–linked mutations in four genes and the effects of PSEN1-P242LfsX11 on cytokine and chemokine expression in macrophages
- Case report: Heterozygous mutation in HTRA1 causing typical cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
- P-18 THREE BODY PROBLEM PATIENT: EHLER DANLOS SYNDROME COMBINED WITH HYPOPHOSPHATASIA AND FATTY ACID OXIDATION DEFECT
- Genetics
- Androgen Biosynthesis and Gene Defects
- Alopecia totalis in an infant
- Deletion of an enhancer in FGF5 is associated with ectopic expression in goat hair follicles and the cashmere growth phenotype
- Atypical Progeroid Syndrome due to Heterozygous Missense LMNA Mutations
- Identification of a novel homozygous LAMB3 mutation in a Chinese male with junctional epidermolysis bullosa and severe urethra stenosis: A case report
- Editor's evaluation: Complementary evolution of coding and noncoding sequence underlies mammalian hairlessness
- Intragenic deletion in the Desmoglein 4 gene underlies the skin phenotype in the Iffa Credo “hairless” rat
- Faculty Opinions recommendation of Hidradenitis suppurativa as a potential subtype of autoinflammatory keratinization disease.
- Pseudoxanthoma Elasticum: Progress in Research Toward Treatment: Summary of the 2012 PXE International Research Meeting
- Two Different Mutations in the Same Codon of a Type II Hair Keratin (hHb6) in Patients with Monilethrix
- A mutation in MAP2 is associated with prenatal hair follicle density
- Masquerading of trichotillomania in a family with monilethrix