Search
for
Sort by
Research 151–180 of 1000+
- Novel Hairless Mutations in Two Kindreds with Autosomal Recessive Papular Atrichia
- Hutchinson-Gilford Progeria Syndrome—Current Status and Prospects for Gene Therapy Treatment
- A Mutational Hotspot in the 2B Domain of Human Hair Basic Keratin 6 (hHb6) in Monilethrix Patients
- A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report
- Congenital Zinc Deficiency from Mutations of the<i>SLC39A4</i>Gene as the Genetic Background of Acrodermatitis Enteropathica
- Marie Unna hereditary hypotrichosis caused by a novel mutation in the human hairless transcript
- CYP21A2 Mutations in Women with Polycystic Ovary Syndrome (PCOS)
- Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population
- Topical minoxidil improves congenital hypotrichosis caused by <i>LIPH</i> mutations
- Detection of a Novel Missense Mutations in Atrichia with Papular Lesions
- Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia
- Bullous Congenital Ichthyosiform Erythroderma with Tinea Capitis in Half-Siblings: Rare Phenomenon in Ichthyosis with Co-Existing Trichophyton rubrum Infection and Blocker Displacement Amplification for Mosaic Mutation Detection
- Autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations: a case report
- In Silico Characterization and Analysis of Clinically Significant Variants of Lipase-H (LIPH Gene) Protein Associated with Hypotrichosis
- Unexpectedly high carrier rates and genotype/phenotype correlation; LIPH mutations in Japanese autosomal recessive woolly hair/hypotrichosis
- Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis
- Human Hair Growth Deficiency Is Linked to a Genetic Defect in the Phospholipase Gene <i>LIPH</i>
- RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome
- Germline Mutation in ATR in Autosomal- Dominant Oropharyngeal Cancer Syndrome
- Postzygotic Mutations in Beta-Actin Are Associated with Becker’s Nevus and Becker’s Nevus Syndrome
- Phenotypic variability associated with<i>WNT10A</i>nonsense mutations
- A Novel Missense Mutation Affecting the Human Hairless Thyroid Receptor Interacting Domain 2 Causes Congenital Atrichia
- New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report
- Novel Mutations in X-Linked Dominant Chondrodysplasia Punctata (CDPX2)
- Two familial cases of Olmsted-like syndrome with a G573V mutation of the<i>TRPV3</i>gene
- 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
- Marie Unna hereditary hypotrichosis: A Turkish family with loss of eyebrows and a <i>U2HR</i> mutation
- Lamellar ichthyosis with pseudoexon activation in the transglutaminase 1 gene
- Molecular evolution of HR, a gene that regulates the postnatal cycle of the hair follicle
- Identification of 736T>A mutation of lipase H in Japanese siblings with autosomal recessive woolly hair