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Research 121–150 of 817
- Expanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous Mutations
- Atrichia with papular lesions resulting from a novel insertion mutation in the human hairless gene
- Recessive Mutation in FAM83G Associated with Palmoplantar Keratoderma and Exuberant Scalp Hair
- A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients
- Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia
- Autosomal Recessive Woolly Hair Caused by LIPH Mutations: A Case Series of Six Chinese Patients
- Novel frameshift mutation in TRPS1 in a ukrainian patient with trichorhinophalangeal syndrome type I
- PTCH1 Germline Mutations and the Basaloid Follicular Hamartoma Values in the Tumor Spectrum of Basal Cell Carcinoma Syndrome (NBCCS)
- Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements
- Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot
- Novel Vitamin D Receptor Mutations in Hereditary Vitamin D Resistant Rickets in Chinese
- Case Report: Bi-allelic missense variant in the desmocollin 3 gene causes hypotrichosis and recurrent skin vesicles
- A Spontaneous Fatp4/Scl27a4 Splice Site Mutation in a New Murine Model for Congenital Ichthyosis
- Recent advances in the molecular mechanisms determining tissue sensitivity to glucocorticoids: novel mutations, circadian rhythm and ligand-induced repression of the human glucocorticoid receptor
- A Case of Familial Male-limited Precocious Puberty with a Novel Mutation
- Atrichia with papular lesions in a Taiwanese patient without hairless (HR) gene mutation
- Unexpectedly high carrier rates and genotype/phenotype correlation; LIPH mutations in Japanese autosomal recessive woolly hair/hypotrichosis
- Highly Prevalent LIPH Founder Mutations Causing Autosomal Recessive Woolly Hair/Hypotrichosis in Japan and the Genotype/Phenotype Correlations
- The retarded hair growth ( rhg ) mutation in mice is an allele of ornithine aminotransferase ( Oat )
- 301 Whole exome sequencing in AA patients identifies a hotspot mutation in the type II hair keratin gene, KRT82
- Mutations in ABCB6 Cause Dyschromatosis Universalis Hereditaria
- Molecular basis of hypohidrotic ectodermal dysplasia: an update
- Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex
- The mouse frizzy (<i>fr</i>) and rat ‘hairless’ (<i>fr</i><sup><i>CR</i></sup>) mutations are natural variants of protease serine S1 family member 8 (<i>Prss8</i>)
- Androgen Receptor Mutations and Polymorphisms in African American Prostate Cancer
- Methylenetetrahydrofolate reductase C677T mutation in patients with alopecia areata in Turkish population
- Novel Mutation in Sjögren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes
- Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population
- A combination of low-dose systemic etretinate and topical calcipotriol/betamethasone dipropionate treatment for hyperkeratosis and itching in Olmsted syndrome associated with a TRPV3 mutation
- Connexin mutations in human disease