Search
for
Sort by
Research 841–870 of 1000+
- Substrate specific sulfatase activity from hair follicles in recessive X-linked ichthyosis
- A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle
- Disruption of P2RY5, an orphan G protein–coupled receptor, underlies autosomal recessive woolly hair
- Novel Hairless Mutations in Two Kindreds with Autosomal Recessive Papular Atrichia
- Olmsted Syndrome Caused by a Homozygous Recessive Mutation in TRPV3
- Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex
- Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype
- A homozygous missense variant in type I keratin <i>KRT25</i> causes autosomal recessive woolly hair
- Identification of a novel<i>PNPLA1</i>mutation in a Spanish family with autosomal recessive congenital ichthyosis
- Highly Prevalent LIPH Founder Mutations Causing Autosomal Recessive Woolly Hair/Hypotrichosis in Japan and the Genotype/Phenotype Correlations
- A missense mutation in the P2RY5 gene leading to autosomal recessive woolly hair in a Syrian patient
- Identification of factors contributing to phenotypic divergence via quantitative image analyses of autosomal recessive woolly hair/hypotrichosis with homozygous c.736T>A<i>LIPH</i>mutation
- Prevalent founder mutation c.736T>A of <i>LIPH</i> in autosomal recessive woolly hair of Japanese leads to variable severity of hypotrichosis in adulthood
- The β9 Loop Domain of PA-PLA1α Has a Crucial Role in Autosomal Recessive Woolly Hair/Hypotrichosis
- Autosomal recessive pure hair and nail ectodermal dysplasia linked to chromosome 12p11.1-q14.3 without KRTHB5 gene mutation
- Isolated autosomal recessive woolly hair/hypotrichosis: genetics, pathogenesis and therapies
- 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
- Autosomal recessive congenital ichthyosis due to <i>PNPLA1</i> mutation in a golden retriever–poodle cross‐bred dog and the effect of topical therapy
- <i>NIPAL4</i> deletion identified in an American Bully with autosomal recessive congenital ichthyosis and response to topical therapy
- Identification of 736T>A mutation of lipase H in Japanese siblings with autosomal recessive woolly hair
- Association of Topical Minoxidil With Autosomal Recessive Woolly Hair/Hypotrichosis Caused by <i>LIPH</i> Pathogenic Variants
- Topical polyhydroxy acid treatment for autosomal recessive congenital ichthyosis in the golden retriever: a prospective pilot study
- Homozygous missense mutation in the<i>LIPH</i>gene causing autosomal recessive hypotrichosis simplex in a Chinese patient
- Novel small‐insertion mutation in the <i>LIPH</i> gene in a patient with autosomal recessive woolly hair/hypotrichosis
- NIPAL4 mutation c.527C˃A identified in Romanian patients with autosomal recessive congenital ichthyosis
- Autosomal recessive hypotrichosis simplex with woolly hair: a report of a new family
- Autosomal Recessive Woolly Hair Caused by LIPH Mutations: A Case Series of Six Chinese Patients
- Autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations: a case report
- Autosomal recessive woolly hair/hypotrichosis with homozygous mutation in the <i>LIPH</i> gene: a case report
- Complete defect in PA-PLA1α secretion function leading to autosomal recessive woolly hair and hypotrichosis: insights from a novel compound heterozygous LIPH variant study in a Chinese pedigree