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Research 121–150 of 1000+
- New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report
- Case report: Exploring autosomal recessive woolly hair: genetic and scanning electron microscopic perspectives on a Japanese patient
- Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population
- A Novel Mutation in the<i>MBTPS2</i>Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
- 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.
- Novel Hairless Mutations in Two Kindreds with Autosomal Recessive Papular Atrichia
- Recently Identified Forms of Epidermolysis Bullosa
- Cutaneous, Cranial, and Skeletal Defects in Children and Adults with Focal Dermal Hypoplasia
- High-throughput Sequencing to Identify Monogenic Etiologies in a Preselected Polycystic Ovary Syndrome Cohort
- Four hypotrichosis families with mutations in the gene <i>LSS</i> presenting with and without neurodevelopmental phenotypes
- 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
- Alymphoid cystic thymic dysgenesis - FOXN1 gene mutation: a rare case report of two siblings
- Biotinidase deficiency characterized by skin and hair findings
- Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy
- Diagnosis and treatment of isolated autosomal recessive woolly hair/hypotrichosis
- 9. Immunology and Genetics
- Australasian Society for Dermatology Research Meeting, May 2006
- Steroid Biomarkers and Genetic Studies Reveal Inactivating Mutations in Hexose-6-Phosphate Dehydrogenase in Patients with Cortisone Reductase Deficiency
- Interactions of the Vitamin D Receptor with the Corepressor Hairless
- Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements
- Ancient Genomes Reveal the Evolutionary History and Origin of Cashmere-Producing Goats in China
- Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma
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- Gene-Environment Interaction Between <i>CYP1B1</i> and Oral Contraception on Frontal Fibrosing Alopecia
- 301 Whole exome sequencing in AA patients identifies a hotspot mutation in the type II hair keratin gene, KRT82
- An epistatic effect of KRT25 on SP6 is involved in curly coat in horses
- DSP c.6310delA p.(Thr2104Glnfs*12) associates with arrhythmogenic cardiomyopathy, increased trabeculation, curly hair, and palmoplantar keratoderma
- Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families
- Whole genome sequencing analysis of alpaca suggests TRPV3 as a candidate gene for the suri phenotype