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Research 211–240 of 1000+
- Role of Aire and Notch4 Allelic Mutations in Alopecia Areata in C3H/HeJ Mice
- Cantú Syndrome Is Caused by Mutations in ABCC9
- Molecular and functional aspects of the hairless (<i>hr</i>) gene in laboratory rodents and humans
- Cloning of wrinkle-free, a previously uncharacterized mouse mutation, reveals crucial roles for fatty acid transport protein 4 in skin and hair development
- The nude gene and the skin
- Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements
- Marie Unna Hereditary Hypotrichosis Gene Maps to Human Chromosome 8p21 Near Hairless
- A novel mutation in Hr causes abnormal hair follicle morphogenesis in hairpoor mouse, an animal model for Marie Unna Hereditary Hypotrichosis
- A new mutation resulting in the truncation of the TRAF6-interacting domain of XEDAR: a possible novel cause of hypohidrotic ectodermal dysplasia: Figure 1
- Marie Unna hereditary hypotrichosis: Identification of a U2HR mutation in the family from the original 1925 report
- Tooth Development Associated with Mutations in Hereditary Vitamin D–Resistant Rickets
- Disease causing homozygous variants in the human hairless gene
- Marie Unna Hereditary Hypotrichosis Gene Maps to Human Chromosome 8p21 Near Hairless
- Homozygous missense mutation in the<i>LIPH</i>gene causing autosomal recessive hypotrichosis simplex in a Chinese patient
- Heterozygous deletion of the <i>NSDHL</i> gene in an Appenzeller Mountain Dog with verrucous epidermal keratinocytic nevi
- Pachyonychia congenita: Sporadic onset with mutation analysis
- Detection of Type IIHair Keratin Gene in a Family with Monilethrix
- Mutation des menschlichen hairless -Gens bei Atrichia universalis
- Exploiting the Keratin 17 Gene Promoter To Visualize Live Cells in Epithelial Appendages of Mice
- A novel nonsense CDH3 mutation in hypotrichosis with juvenile macular dystrophy
- Identification of a novel heterozygous mutation in the first Japanese case of Marie Unna hereditary hypotrichosis
- Natural course of epidermolysis bullosa simplex with mottled pigmentation in a Japanese family with the p.P25L mutation in <i> KRT 5 </i>
- Identification of Somatic <i>KRAS</i> Mutation in a Korean Baby with Nevus Sebaceus Syndrome
- Two novel <i>BTD</i> mutations causing profound biotinidase deficiency in a Chinese patient
- Ichthyosis, Follicular Atrophoderma, and Hypotrichosis Caused by Mutations in ST14 Is Associated with Impaired Profilaggrin Processing
- A family of type I keratin genes and the homeobox-2 gene complex are closely linked to the rex locus on mouse chromosome 11
- Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome
- 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
- Novel Vitamin D Receptor Mutations in Hereditary Vitamin D Resistant Rickets in Chinese
- A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10