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Research 331–360 of 1000+
- Atrichia with papular lesions resulting from a novel homozygous missense mutation in the hairless gene
- Female Pseudohermaphroditism Caused by a Novel Homozygous Missense Mutation of the GR Gene
- A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type
- Identification of novel mutation in the<i>HR</i>gene responsible for atrichia with papular lesions in a Pakistani family
- A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report
- A novel missense mutation in the mouse hairless gene causes irreversible hair loss: Genetic and molecular analyses of Hrm1Enu
- SAT-288 Successful Virilization of a PAIS Patient with a Missense Mutation In The Ligand-binding Domain Of The Androgen Receptor with Combined High-dose Testosterone and Aromatase Inhibitor
- Clinical and genetic findings in a Chinese family with VDR-associated hereditary vitamin D-resistant rickets
- PA11 A rare case of a severe papulopustular dermatosis secondary to a germline <i>EGFR</i> mutation
- The lanceolate hair rat phenotype results from a missense mutation in a calcium coordinating site of the desmoglein 4 gene
- Olmsted Syndrome Caused by a Homozygous Recessive Mutation in TRPV3
- 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
- Unexpectedly high carrier rates and genotype/phenotype correlation; LIPH mutations in Japanese autosomal recessive woolly hair/hypotrichosis
- Compound Heterozygous Mutations in the Hairless Gene in Atrichia with Papular Lesions
- Presence of a Deletion Mutation (c.716delA) in the Ligand Binding Domain of the Vitamin D Receptor in an Indian Patient with Vitamin D-Dependent Rickets Type II
- Relationship of a Novel c.429delC Deletion in Hairless Gene HR with Alopecia in Two Families from Southern Punjab, Pakistan
- Germline Mutation in ATR in Autosomal- Dominant Oropharyngeal Cancer Syndrome
- In vivo function of VDR in gene expression-VDR knock-out mice
- Highly Prevalent LIPH Founder Mutations Causing Autosomal Recessive Woolly Hair/Hypotrichosis in Japan and the Genotype/Phenotype Correlations
- Human FOXN1-Deficiency Is Associated with αβ Double-Negative and FoxP3+ T-Cell Expansions That Are Distinctly Modulated upon Thymic Transplantation
- Author response: The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome
- Decision letter: The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome
- Semidominant Inheritance in Epidermolytic Ichthyosis
- A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis
- Normalization of hair growth in sparse fur-abnormal skin and hair (SPF-ASH) mice by introduction of the rat ornithine transcarbamylase (OTC) gene
- A Novel Androgen Receptor Gene Mutation in a 46,XY Patient: Complete Androgen Insensitivity Syndrome
- HuR ablation destabilizes Foxp3 mRNA and impairs regulatory T cell function, contributing to an autoimmune phenotype
- 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
- Alopecia in Epidermolysis Bullosa
- Atrichia with papular lesions resulting from a novel insertion mutation in the human hairless gene