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Research 271–300 of 1000+
- Skin abnormalities generated by temporally controlled RXRα mutations in mouse epidermis
- Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia resulting from a novel missense mutation in the DNA-binding domain of the vitamin D receptor
- Office Diagnosis of Hair Shaft Defects
- Biochemical features of primary cells from a pediatric patient with a gain-of-function <i>ODC1</i> genetic mutation
- Two siblings with a novel nonsense mutation, p.R50X, in the vitamin D receptor gene
- Natural course of epidermolysis bullosa simplex with mottled pigmentation in a Japanese family with the p.P25L mutation in <i> KRT 5 </i>
- Keratitis-Ichthyosis-Deafness Syndrome Caused by Missense Mutation in GJB2 Encoding Connexin 26 in a Chinese Patient
- 40 PRLR and PCCA variants associated with hair length in Brangus heifers
- Fine Mapping and Identifying the Mutation Gene of snthr -1Bao ScantHair Mouse
- An N-Ethyl-N-Nitrosourea Induced Corticotropin-Releasing Hormone Promoter Mutation Provides a Mouse Model for Endogenous Glucocorticoid Excess
- Rapp-Hodgkin syndrome: A review of the aspects of hair and hair color
- Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in <i>TRPV3</i> Gene
- A Spontaneous Fatp4/Scl27a4 Splice Site Mutation in a New Murine Model for Congenital Ichthyosis
- Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) due to AIRET16M mutation in a consanguineous Greek girl
- Syndromic epidermolysis bullosa simplex subtype due to mutations in the KLHL24 gene: series of case reports in Russian families
- KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies
- Atrichia with papular lesions in a Taiwanese patient without hairless (HR) gene mutation
- Phenotypic Heterogeneity in 5 Japanese Patients with an Identical Point Mutation in the Vitamin D Receptor Gene
- Identification of a novel homozygous LAMB3 mutation in a Chinese male with junctional epidermolysis bullosa and severe urethra stenosis: A case report
- The naked truth: Sphynx and Devon Rex cat breed mutations in KRT71
- Signal transducer and activator of transcription 5B deficiency due to a novel missense mutation in the coiled-coil domain
- Hutchinson-Gilford progeria syndrome: Report of 2 cases and a novel LMNA mutation of HGPS in China
- A Case of Trichorhinophalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the <i>TRPS1</i> Gene
- BG02: Muir‐Torre syndrome: a case of unusual coexisting genetic mutations
- A Case Report of Werner’s Syndrome With a Novel Mutation From India
- Nevoid basal carcinoma syndrome (Gorlin syndrome) and pronounced androgenic alopecia in a woman with a novel mutation p.Leu1159fsx32 in the PTCH gene
- Polygenic control of the wavy coat of the NCT mouse: involvement of an intracisternal A particle insertional mutation of the protease, serine 53 (Prss53) gene, and a modifier gene
- Co-occurrence of monilethrix and Type 1 diabetes mellitus
- Pathogenesis and clinical features of alopecia in epidermolysis bullosa: A systematic review
- Transglutaminase 3: The Involvement in Epithelial Differentiation and Cancer