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Research 241–270 of 1000+
- Next-generation Sequencing Identified a Novel EDA Mutation in a Chinese Pedigree of Hypohidrotic Ectodermal Dysplasia with Hyperplasia of the Sebaceous Glands
- Novel compound heterozygous cadherin 3 mutations in hypotrichosis and juvenile macular dystrophy
- Studies on basal cell carcinoma with emphasis on the role of the human homologue of the Drosophila patched gene
- Hereditary 1,25-Dihydroxyvitamin D Resistant Rickets due to a Mutation Causing Multiple Defects in Vitamin D Receptor Function
- Tryptophan Missense Mutation in the Ligand‐Binding Domain of the Vitamin D Receptor Causes Severe Resistance to 1,25‐Dihydroxyvitamin D
- Forkhead/winged-helix transcription factor whn regulates hair keratin gene expression: Molecular analysis of theNude skin phenotype
- Atypical Progeroid Syndrome due to Heterozygous Missense LMNA Mutations
- Deficient Plakophilin-1 Expression Due to a Mutation in PKP1 Causes Ectodermal Dysplasia-Skin Fragility Syndrome in Chesapeake Bay Retriever Dogs
- Intragenic deletion in the Desmoglein 4 gene underlies the skin phenotype in the Iffa Credo “hairless” rat
- Harlequin ichthyosis (ichq): a juvenile lethal mouse mutation with ichthyosiform dermatitis.
- Biochemical features of primary cells from a pediatric patient with a gain-of-function <i>ODC1</i> genetic mutation
- Scd1 ab-Xyk : a new asebia allele characterized by a CCC trinucleotide insertion in exon 5 of the stearoyl-CoA desaturase 1 gene in mouse
- Identification of a novel homozygous LAMB3 mutation in a Chinese male with junctional epidermolysis bullosa and severe urethra stenosis: A case report
- Influence of TRPV3 mutation on hair growth cycle in mice
- Hutchinson-Gilford progeria syndrome: Report of 2 cases and a novel LMNA mutation of HGPS in China
- The naked truth: Sphynx and Devon Rex cat breed mutations in KRT71
- A Case of Familial Male-limited Precocious Puberty with a Novel Mutation
- A Case Report of Werner’s Syndrome With a Novel Mutation From India
- An Autosomal Recessive Woolly Hair/Hypotrichosis Case with LIPH Mutation in a Turkish Patient
- BG02: Muir‐Torre syndrome: a case of unusual coexisting genetic mutations
- Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) due to AIRET16M mutation in a consanguineous Greek girl
- Signal transducer and activator of transcription 5B deficiency due to a novel missense mutation in the coiled-coil domain
- Development of Woolly Hair and Hairlessness in a CRISPR−Engineered Mutant Mouse Model with KRT71 Mutations
- 42863 The association of milia-like calcinosis cutis, alopecia totalis and hyperthyroidism linked with the novel mutation for RBM28
- Molecular basis of hypohidrotic ectodermal dysplasia: an update
- Milestones in Photocarcinogenesis
- The Genetics of Human Skin Disease
- New developments in the molecular treatment of ichthyosis: review of the literature
- Association analysis of polymorphisms in six keratin genes with wool traits in sheep
- Molecular Genetics of Alopecias