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Research 91–120 of 1000+
- Delayed-onset pachyonychia congenita caused by a novel mutation in the V2 domain of keratin 6b
- Detection of a Novel Missense Mutations in Atrichia with Papular Lesions
- Identification of a recurrent nonsense mutation in <i>HR</i> gene responsible for atrichia with papular lesions in two Kashmiri families
- A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix
- A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix
- Detection of five substitution TPO mutations in Polycystic Ovary Syndrome (PCOS) and thyroid hormones disturbance patients
- Unexpected hair growth induced by gefitinib treatment in two patients with EGFR gene mutation-positive adenocarcinoma of the lung
- 461 Identification of a Novel Pathogenic XPC:c.2420+1G>C Variant in a Patient with Xeroderma Pigmentosum
- A new heterozygous frameshift variant in keratin 10 resulting in ichthyosis hystrix in a father and daughter
- Keratitis-Ichthyosis-Deafness Syndrome Caused by Missense Mutation in GJB2 Encoding Connexin 26 in a Chinese Patient
- Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
- Novel frameshift mutation in TRPS1 in a ukrainian patient with trichorhinophalangeal syndrome type I
- Mutation analysis of type II hair keratin gene in a pedigree with monilethrix
- Detection of Type IIHair Keratin Gene in a Family with Monilethrix
- Characterisation, genomic organisation, expression and function of the mEphA1 receptor Tyrosine Kinase
- Comprehensive Program Planning for the Integration of 21st Century Learning Center After-School Programs with Regular Day Programs and Community Partners.
- Androgen receptor gene CAG and GGN polymorphisms in infertile Nigerian men
- Novel<i>PAX</i><i>9</i>mutation associated with syndromic tooth agenesis
- Trichorhinophalangeal syndrome with low expression of TRPS1 on epidermal and hair follicle epithelial cells
- Novel missense mutation in the EDA gene in a family affected by oligodontia
- A newly identified missense mutation of the HR gene is associated with a novel, unusual phenotype of Marie Unna Hereditary Hypotrichosis 1 including limb deformities
- Phenotypic Heterogeneity in 5 Japanese Patients with an Identical Point Mutation in the Vitamin D Receptor Gene
- A Novel Point Mutation in the Ligand-Binding Domain (LBD) of the Human Glucocorticoid Receptor (hGR) Causing Generalized Glucocorticoid Resistance: The Importance of the C Terminus of hGR LBD in Conferring Transactivational Activity
- The E211 G>A Androgen Receptor Polymorphism Is Associated with a Decreased Risk of Metastatic Prostate Cancer and Androgenetic Alopecia
- Mice with Alopecia, Osteoporosis, and Systemic Amyloidosis Due to Mutation in Zdhhc13, a Gene Coding for Palmitoyl Acyltransferase
- Significance of the polyglutamine tract polymorphism in the androgen receptor
- Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy
- Kin‐cohort analysis of <i>LRRK2</i>‐G2019S penetrance in Parkinson's disease
- A preliminary study of finasteride in Tourette syndrome
- Androgen receptor gene polymorphism and polycystic ovary syndrome