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Research 61–90 of 1000+
- The β9 Loop Domain of PA-PLA1α Has a Crucial Role in Autosomal Recessive Woolly Hair/Hypotrichosis
- Birt-Hogg-Dube Syndrome with a Novel Mutation in the <i>FLCN</i> Gene
- Highly Prevalent LIPH Founder Mutations Causing Autosomal Recessive Woolly Hair/Hypotrichosis in Japan and the Genotype/Phenotype Correlations
- Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters
- Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome
- Hypertrichosis cubiti (hairy elbows) and short stature: a recognisable association.
- Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions
- Semidominant Inheritance in Epidermolytic Ichthyosis
- Novel de novo pathogenic variant in the <i>ODC1</i> gene in a girl with developmental delay, alopecia, and dysmorphic features
- Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita
- Whole exome sequencing in Alopecia Areata identifies rare variants in KRT82
- 9209 Functional Evaluation Of Novel CYP21A2 Variants: Expanding The Genetic Basis Of Non-classic CAH
- Gene-Environment Interaction Between <i>CYP1B1</i> and Oral Contraception on Frontal Fibrosing Alopecia
- STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity
- Association of single nucleotide polymorphisms in the <i>RAB5B</i> gene 3′UTR region with polycystic ovary syndrome in Chinese Han women
- Investigation of the association of the MLPH gene with seasonal canine flank alopecia in Rhodesian Ridgeback dogs
- A Novel Missense Mutation Affecting the Human Hairless Thyroid Receptor Interacting Domain 2 Causes Congenital Atrichia
- A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix
- Genetic Variant of the Canine FGF5 Gene for the Hair Length Trait in the Akita: Utility for Hair Coat Variations and Welfare in Conservation Breeding
- Identification of a Cyclosporine-Specific P450 Hydroxylase Gene through Targeted Cytochrome P450 Complement (CYPome) Disruption in Sebekia benihana
- Tumor Mapping in 2 Large Multigenerational Families With CYLD Mutations
- A Clinical Approach to Severe Insulin Resistance
- 5α-Reductase type 2 gene variant associations with prostate cancer risk, circulating hormone levels and androgenetic alopecia
- Riboflavin-responsive glutaryl CoA dehydrogenase deficiency
- Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis
- A novel homozygous variant in the dsp gene underlies the first case of non-syndromic form of alopecia
- Adenomatous Polyposis Coli (APC) Is Required for Normal Development of Skin and Thymus
- A Novel Point Mutation in the Ligand-Binding Domain (LBD) of the Human Glucocorticoid Receptor (hGR) Causing Generalized Glucocorticoid Resistance: The Importance of the C Terminus of hGR LBD in Conferring Transactivational Activity
- Autoimmune Polyglandular Syndrome Type 1 in Russian Patients: Clinical Variants and Autoimmune Regulator Mutations
- Combined hormonal contraception and venous thromboembolism