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Research 421–450 of 1000+
- Two siblings with a novel nonsense mutation, p.R50X, in the vitamin D receptor gene
- Whiskers amiss, a new vibrissae and hair mutation near the Krt1 cluster on mouse Chromosome 11
- Clinical-Exome Sequencing Unveils the Genetic Landscape of Polycystic Ovarian Syndrome (PCOS) Focusing on Lean and Obese Phenotypes: Implications for Cost-Effective Diagnosis and Personalized Treatment
- Improving human forensics through advances in genetics, genomics and molecular biology
- Phenotypic Heterogeneity in 5 Japanese Patients with an Identical Point Mutation in the Vitamin D Receptor Gene
- Case report: Novel p.Val306Met missense mutation in TRPV3 in a case of Olmsted syndrome accompanied by squamous cell carcinoma
- Skin abnormalities generated by temporally controlled RXRα mutations in mouse epidermis
- Female Pseudohermaphroditism Caused by a Novel Homozygous Missense Mutation of the GR Gene
- Olmsted Syndrome Caused by a Homozygous Recessive Mutation in TRPV3
- Fetal alpha 5-reductase Val89Leu mutation is associated with late miscarriage
- Hutchinson-Gilford progeria syndrome: Report of 2 cases and a novel LMNA mutation of HGPS in China
- Identificación de la variación molecular y genética subyacente a las enfermedades de la piel
- 8507 Misdiagnosis of Graves’ and RAI Treatment in Patient with THRB Gene Mutation
- Keratitis-Ichthyosis-Deafness Syndrome Caused by Missense Mutation in GJB2 Encoding Connexin 26 in a Chinese Patient
- Alymphoid cystic thymic dysgenesis - FOXN1 gene mutation: a rare case report of two siblings
- Skin, Genetic Defects, and Aging
- Björnstad Syndrome With Late‐Onset Alopecia Mimicking Androgenetic Alopecia: Histopathological and Genetic Findings
- Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in <i>TRPV3</i> Gene
- Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) due to AIRET16M mutation in a consanguineous Greek girl
- Case report of Schöpf–Schulz–Passarge syndrome resulting from a missense mutation, p.Arg104Cys, in <i>WNT10A</i>
- The urine as a diagnostic key for a homozygous EGFR mutation
- Skin and hair abnormalities of Cantu syndrome: A congenital hypertrichosis due to a genetic alteration mimicking the pharmacological effect of minoxidil
- The hair shaft: normality, abnormality, and genetics
- Hague (<i>Hag</i>): A New Mouse Hair Mutation With an Unstable Semidominant Allele
- Gene Variant in Amish a Clue to Better Aging
- Recent positive selection of a human androgen receptor/ectodysplasin A2 receptor haplotype and its relationship to male pattern baldness
- A family of type I keratin genes and the homeobox-2 gene complex are closely linked to the rex locus on mouse chromosome 11
- Cutaneous, Cranial, and Skeletal Defects in Children and Adults with Focal Dermal Hypoplasia
- Netherton Syndrome – Responding to Oral Retinoids
- Studies on basal cell carcinoma with emphasis on the role of the human homologue of the Drosophila patched gene