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Research 121–150 of 1000+
- Deficient Plakophilin-1 Expression Due to a Mutation in PKP1 Causes Ectodermal Dysplasia-Skin Fragility Syndrome in Chesapeake Bay Retriever Dogs
- Tooth Development Associated with Mutations in Hereditary Vitamin D–Resistant Rickets
- Expanding the phenotype: Four new cases and hope for treatment in Bachmann‐Bupp syndrome
- <i>Hoxc13</i> and the development of hair follicle
- Bald thigh syndrome in sighthounds—Revisiting the cause of a well-known disease
- Hypotrichosis with juvenile macular dystrophy
- Hutchinson-gilford progeria syndrome and its relevance to cardiovascular diseases and normal aging.
- A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype with Woolly Hair and Dental Anomalies
- Growth of the Mouse Coat VII. Hair Cycles and Sebaceous Glands in Homozygous and Heterozygous Naked Mice
- Selective Pituitary Resistance to Thyroid Hormone: Clinical Hyperthyroidism with High TSH on Levothyroxine Administration in I-131 Ablated “Graves Disease”
- Successful use of topical minoxidil in the treatment of hypotrichosis associated with desmoplakin mutations
- Inherited Acrodermatitis Enteropathica
- Autosomal recessive hereditary hypotrichosis simplex: A case report
- Syndromic or non-syndromic congenital ichthyosis? A case report of two brothers with ichthyosis but microphthalmia and blindness in only one brother
- PA05 A rare case of cardiocutaneous syndrome in a young child
- PA15 Becker naevus syndrome associated with a mosaic pathogenic variant in <i>ACTB</i>
- Patched-assoziierte Tumoren: Modifikatorgene und Pathogenese
- Ichthyosiform Erythroderma, a Multifaceted Syndromic Entity
- 848 Genes implicated in lipid & metabolic regulation downregulated in CCCA
- Hypotrichosis in a child with olmsted syndrome
- Metabolic disease with autoimmune phenomena: 2 cases of SLE-like disease in young children diagnosed with lysinuric protein intolerance
- Molecular mechanisms of androgen receptor functions
- Australasian Society for Dermatology Research Meeting, May 2006
- Targeted transgenic expression of the mutation causing Hutchinson-Gilford progeria syndrome leads to proliferative and degenerative epidermal disease
- Novel <i>RNF113A</i> Variant Underlying X‐Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother
- Dysregulation of Grainyhead-like 3 expression causes widespread developmental defects
- Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets
- Defective trophoblast function in mice with a targeted mutation of Ets2
- Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita
- Poster presentationsSG11 KRT14 pathogenic or likely pathogenic variants beyond epidermolysis bullosa: dermatopathia pigmentosa reticularis