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- Novel Androgen Receptor Gene Variant Containing a Premature Termination Codon in a Patient with Androgen Insensitivity Syndrome
- Atrichia with papular lesions resulting from a novel insertion mutation in the human hairless gene
- Novel splice site mutation in the <i>LIPH</i> gene in a patient with autosomal recessive woolly hair/hypotrichosis: Case report and published work review
- 572 Defining chronic wound types in recessive dystrophic epidermolysis bullosa patients for clinical outcome assessment
- Whole genome sequencing analysis of alpaca suggests TRPV3 as a candidate gene for the suri phenotype
- Hereditary 1,25‐Dihydroxyvitamin D–Resistant Rickets Due to an Opal Mutation Causing Premature Termination of the Vitamin D Receptor
- Skipping of Exons by Premature Termination of Transcription and Alternative Splicing within Intron-5 of the Sheep SCF Gene: A Novel Splice Variant
- Novel Hairless Mutations in Two Kindreds with Autosomal Recessive Papular Atrichia
- Relationship of a Novel c.429delC Deletion in Hairless Gene HR with Alopecia in Two Families from Southern Punjab, Pakistan
- Mutations in the Keratin 85 (KRT85/hHb5) Gene Underlie Pure Hair and Nail Ectodermal Dysplasia
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