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Research 31–60 of 1000+
- Phenotypic variability associated with<i>WNT10A</i>nonsense mutations
- 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
- Identification of a Novel Missense Mutation in the Fibroblast Growth Factor 5 Gene Associated with Longhair in the Maine Coon Cat
- Heterozygous deletion of the <i>NSDHL</i> gene in an Appenzeller Mountain Dog with verrucous epidermal keratinocytic nevi
- Nonclassic congenital adrenal hyperplasia and the heterozygote carrier
- The naked truth: Sphynx and Devon Rex cat breed mutations in KRT71
- Cutaneous, Cranial, and Skeletal Defects in Children and Adults with Focal Dermal Hypoplasia
- KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies
- Relationship of a Novel c.429delC Deletion in Hairless Gene HR with Alopecia in Two Families from Southern Punjab, Pakistan
- Lamellar ichthyosis with pseudoexon activation in the transglutaminase 1 gene
- Deciphering the pathogenesis of central centrifugal cicatricial alopecia
- Gene detection in a family with monilethrix and treatment with 5% topical minoxidil
- <i>CCDC47</i> gene and trichohepatoneurodevelopmental syndrome: Report of the fifth and sixth cases from Saudi Arabia
- Woolly hair generalizado: caso clínico e revisão da literatura
- Clinical course of the first Japanese family with Marie Unna hereditary hypotrichosis: a follow-up report
- Gene detection in a family with monilethrix and observation of the treatment effect with 5% topical minoxidil
- Autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations: a case report
- Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-like Congenital Hypotrichosis
- Germline Mutation in ATR in Autosomal- Dominant Oropharyngeal Cancer Syndrome
- A missense mutation in the type II hair keratin hHb3 is associated with monilethrix
- 882 Syndactyly type III and hypotrichosis in oculodentodigital syndrome with GJA1 mutation
- A novel mutation in the connexin 26 gene (<i>GJB2</i>) in a child with clinical and histological features of keratitis–ichthyosis–deafness (KID) syndrome
- Heterozygous 21‐hydroxylasedeficiency as a cause of hyperandrogenism
- Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2
- Biochemical features of primary cells from a pediatric patient with a gain-of-function <i>ODC1</i> genetic mutation
- A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix
- Congenital Zinc Deficiency from Mutations of the<i>SLC39A4</i>Gene as the Genetic Background of Acrodermatitis Enteropathica
- Novel Vitamin D Receptor Mutations in Hereditary Vitamin D Resistant Rickets in Chinese
- Prevalence of CYP21 mutations and IRS1 variant among women with polycystic ovary syndrome and adrenal androgen excess
- Atrichia with papular lesions resulting from mutations in the rhesus macaque (<i>Macaca mulatta</i>) <i>hairless</i> gene