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Research 91–120 of 1000+
- <i>WNT10A</i> , dermatology and dentistry
- Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in <i>TRPV3</i> Gene
- Exploring the clinical implications of novel SRD5A2 variants in 46,XY disorders of sex development
- Modeling animal genomics in mice: An authentic approach for the functional interrogation of evolutionarily and agriculturally critical variants
- The Telomerase Reverse Transcriptase (TERT) Gene Molecular Characterization in Sheep and the Association of Its Variation with Wool Traits
- Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review
- Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population
- New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report
- Clinical and Molecular Diagnostic Criteria of Congenital Atrichia with Papular Lesions11This paper originally appeared in issue 117:1662–1665, 2001. Following publication the authors indicated that important corrections at page proof were not taken in. To ensure that the paper is published as intended, the editors have decided to reproduce the contents in full.
- Identification of compound heterozygous mutations in <i>AP1B1</i> leading to the newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome
- Recently Identified Forms of Epidermolysis Bullosa
- Analysis of the relationship between the mutation site of the SLC39A4 gene and acrodermatitis enteropathica by reporting a rare Chinese twin: a case report and review of the literature
- CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation
- Cantú Syndrome Is Caused by Mutations in ABCC9
- Genome-wide detection of RNA editing events during the hair follicles cycle of Tianzhu white yak
- Four hypotrichosis families with mutations in the gene <i>LSS</i> presenting with and without neurodevelopmental phenotypes
- High-throughput Sequencing to Identify Monogenic Etiologies in a Preselected Polycystic Ovary Syndrome Cohort
- Regulation of feather follicle development and Msx2 gene SNP degradation in Hungarian white goose
- Autosomal Recessive Woolly Hair Caused by LIPH Mutations: A Case Series of Six Chinese Patients
- Clinical-exome sequencing unveils the genetic landscape of polycystic ovarian syndrome (PCOS) focusing on lean and obese phenotypes: implications for cost-effective diagnosis and personalized treatment
- Diagnosis and treatment of isolated autosomal recessive woolly hair/hypotrichosis
- Glucocorticoid Receptor Mutants Demonstrate Increased Motility Inside the Nucleus of Living Cells: Time of Fluorescence Recovery After Photobleaching (FRAP) Is an Integrated Measure of Receptor Function
- Interactions of the Vitamin D Receptor with the Corepressor Hairless
- What does acne genetics teach us about disease pathogenesis?
- Ancient Genomes Reveal the Evolutionary History and Origin of Cashmere-Producing Goats in China
- Novel Vitamin D Receptor Mutations in Hereditary Vitamin D Resistant Rickets in Chinese
- Australasian Society for Dermatology Research Meeting, May 2006
- Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements
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- An epistatic effect of KRT25 on SP6 is involved in curly coat in horses