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Research 91–120 of 1000+
- sQuiz your knowledge: Polycyclic annular plaques on the trunk following dutasteride treatment
- SAT-210 When Acne, Hirsutism and Menstrual Irregularities Are More Than PCOS
- Inherited Epidermolysis Bullosa: A Clinical Case
- Perspectives of Kennedy's disease
- A homozygous missense variant in type I keratin <i>KRT25</i> causes autosomal recessive woolly hair
- Desmoglein 4 Mutations Underlie Localized Autosomal Recessive Hypotrichosis in Humans, Mice, and Rats
- Identification of potential key genes and pathways associated with the Pashmina fiber initiation using RNA-Seq and integrated bioinformatics analysis
- STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity
- No evidence for <i>THAP1</i>/<i>DYT6</i> variants as disease modifiers in DYT1 dystonia
- APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex
- Abstracts
- Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita
- Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex
- Autoimmune Polyglandular Syndrome Type 1 in Russian Patients: Clinical Variants and Autoimmune Regulator Mutations
- Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy
- SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder
- Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2
- Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia
- Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa Simplex
- SASH1 Mutations and Hereditary Disorders of Pigmentation: Review of Literature
- <i>C2orf37</i> mutational spectrum in Woodhouse–Sakati syndrome patients
- Testosterone levels in relation to oral contraceptive use and the androgen receptor CAG and GGC length polymorphisms in healthy young women
- Distinct genotype-phenotype patterns in non-syndromic hereditary hypotrichosis: a multicenter Chinese cohort
- Novel <i>RNF113A</i> Variant Underlying X‐Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother
- Genome-wide Scan and Fine-Mapping Linkage Study of Androgenetic Alopecia Reveals a Locus on Chromosome 3q26
- Clinical and Molecular Genetic Findings of Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
- Identification of a novel<i>PNPLA1</i>mutation in a Spanish family with autosomal recessive congenital ichthyosis
- Genes for intermediate filament proteins and the draft sequence of the human genome
- Wool Keratin-Associated Protein Genes in Sheep—A Review
- Organization and Expression of Hair Follicle Genes.