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Research 61–90 of 1000+
- BH15 Nonsyndromic hypotrichosis: a rare case of congenital hypotrichosis 15 and management with minoxidil
- PA11 A rare case of a severe papulopustular dermatosis secondary to a germline <i>EGFR</i> mutation
- Independent DSG4 frameshift variants in cats with hair shaft dystrophy
- Amelioration by Copper Supplementation of Mutant Gene Effects in the Crinkled Mouse
- 9. Immunology and Genetics
- STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity
- Highly Prevalent LIPH Founder Mutations Causing Autosomal Recessive Woolly Hair/Hypotrichosis in Japan and the Genotype/Phenotype Correlations
- A human vitamin D receptor mutation causes rickets and impaired Th1/Th17 responses
- A missense mutation in the P2RY5 gene leading to autosomal recessive woolly hair in a Syrian patient
- A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10
- Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Barrier Dysfunction
- A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family
- The Naked (N) Mutation, Chromosome 15
- Clinicopathological insights into the phenotypic variation of autosomal recessive hypotrichosis/wooly hair by c.736T>A LIPH mutation
- Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles
- Woodhouse-Sakati Syndrome Due to the Rare DCAF17 c.321+1G>A Mutation: The Second Case Report Worldwide
- A Novel Missense Mutation Affecting the Human Hairless Thyroid Receptor Interacting Domain 2 Causes Congenital Atrichia
- A novel mutation in Hr causes abnormal hair follicle morphogenesis in hairpoor mouse, an animal model for Marie Unna Hereditary Hypotrichosis
- CDH3 Mutation in Saudi Arabia: A Case of Hypotrichosis With Juvenile Macular Dystrophy
- Hypotrichosis congenita (KRT71 mutation) in Hereford cattle in Uruguay
- Angora Mouse Mutation: Altered Hair Cycle, Follicular Dystrophy, Phenotypic Maintenance of Skin Grafts, and Changes in Keratin Expression
- A null mutation in the cystatin M/E gene of ichq mice causes juvenile lethality and defects in epidermal cornification
- A Missense Mutation in the Cadherin Interaction Site of The Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis
- 889 Trpv3 gain-of-function mutation impairs differentiation of hair follicle inner root sheath
- A homozygous single T deletion found in the GGCX gene with PXE-like phenotypes
- Curly : a new hair defect mutation in the SELH/bc mouse strain
- A Novel Androgen Receptor Gene Mutation in a 46,XY Patient: Complete Androgen Insensitivity Syndrome
- Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia
- A novel homozygous variant in the dsp gene underlies the first case of non-syndromic form of alopecia
- A homozygous missense variant in type I keratin <i>KRT25</i> causes autosomal recessive woolly hair