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Research 181–210 of 1000+
- Desmoglein 4 Mutations Underlie Localized Autosomal Recessive Hypotrichosis in Humans, Mice, and Rats
- Identification of a novel heterozygous mutation in the first Japanese case of Marie Unna hereditary hypotrichosis
- Ichthyosis, Follicular Atrophoderma, and Hypotrichosis Caused by Mutations in ST14 Is Associated with Impaired Profilaggrin Processing
- Natural potent androgens: Lessons from human genetic models
- Cantú Syndrome Is Caused by Mutations in ABCC9
- PTCH1 Germline Mutations and the Basaloid Follicular Hamartoma Values in the Tumor Spectrum of Basal Cell Carcinoma Syndrome (NBCCS)
- Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation
- 314 Molecular genetic dissection of ILVEN leads to successful targeted therapy
- Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: Oral Presentations
- Two mutations at KRT74 and EDAR synergistically drive the fine-wool production in Chinese sheep
- Molecular Genetics of the PI3K-AKT-mTOR Pathway in Genodermatoses: Diagnostic Implications and Treatment Opportunities
- Identification of somatic and germline mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as a sporadic case
- Genetic characterization of congenital defects in dogs : caudal dysplasia, ectodermal dysplasia and mucopolysaccharidosis VII
- Genetics and Pathophysiology of Congenital Adrenal Hyperplasia
- The mutational analysis of mitochondrial DNA in maternal inheritance of polycystic ovarian syndrome
- Case report: Acrodermatitis enteropathica result from a novel SLC39A4 gene mutation
- The naked truth: Sphynx and Devon Rex cat breed mutations in KRT71
- Novel Mutation in Sjögren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes
- Hidradenitis suppurativa and Mediterranean fever gene mutations
- Identification of two additional novel mutations in the AR gene associated with severe forms of androgen insensitivity syndrome
- CDH3 Mutation in Saudi Arabia: A Case of Hypotrichosis With Juvenile Macular Dystrophy
- A missense mutation in Lama3 causes androgen alopecia
- Pachyonychia congenita: Sporadic onset with mutation analysis
- Expanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous Mutations
- Clinical features and genetic analysis of acrodermatitis enteropathica in an ethnic minority infant from Western China: a case report and literature review
- Mutations in the vitamin D receptor and hereditary vitamin D-resistant rickets
- A Splice Site Mutation in the Gene of the Human Type I Hair Keratin hHa1 Results in the Expression of a Tailless Keratin Isoform
- Novel Mutations in X-Linked Dominant Chondrodysplasia Punctata (CDPX2)
- A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report
- Novel splice site mutation in the <i>LIPH</i> gene in a patient with autosomal recessive woolly hair/hypotrichosis: Case report and published work review