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Research 571–600 of 1000+
- FOXN1 deficient nude severe combined immunodeficiency
- Netherton Syndrome in a 9-Month-Old Child: Unraveling a Complex Dermatologic Disorder
- Characterisation of Four New Genes in the Ovine KAP19 Family
- Insight into the pathogensis of polycystic ovarian syndrome
- This Month in the Journal
- New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene
- Genomewide Scan for Linkage Reveals Evidence of Several Susceptibility Loci for Alopecia Areata
- A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family
- Netherton Syndrome With Trichorrhexis Invaginata “Bamboo Hair” Under Dermoscopy: Case Images
- 461 Identification of a Novel Pathogenic XPC:c.2420+1G>C Variant in a Patient with Xeroderma Pigmentosum
- <i>BUZZ</i>: an essential gene for postinitiation root hair growth and a mediator of root architecture in <i>Brachypodium distachyon</i>
- The role of functional variants in the aetiology of polycystic ovary syndrome
- Author response: The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome
- Wool Keratin-Associated Protein Genes in Sheep—A Review
- Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis
- Regulation of masculinization: androgen signalling for external genitalia development
- Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023)
- Recessive Mutation in FAM83G Associated with Palmoplantar Keratoderma and Exuberant Scalp Hair
- Selection signatures of wool color in Gangba sheep revealed by genome-wide SNP discovery
- Safety of Whole-Body Abrogation of the TRF1 Shelterin Protein in Wild-Type and Cancer-Prone Mouse Models
- The Mean Staple Length of Wool Fibre Is Associated with Variation in the Ovine Keratin-Associated Protein 21-2 Gene
- A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype with Woolly Hair and Dental Anomalies
- Novel genes and variants associated with longevity in Bulgarian centenarians revealed by whole exome sequencing DNA pools: a pilot study
- Pathogenesis and management of TRPV3-related Olmsted syndrome
- Effects of KRTAP20-1 Gene Variation on Wool Traits in Chinese Tan Sheep
- A case of <i>MBTPS1</i>‐related disorder due to compound heterozygous variants in <i>MBTPS1</i> gene: Genotype–phenotype expansion and the emergence of a novel syndrome
- Clinical Snippets
- ODP408 Elevated DHEAS and Acute Hair Loss in an Adult Male with Trichorhinophalangeal Syndrome Type 1: a Case of Male PCOS
- Disorders linked to insufficient androgen action in male children
- Detection of circular RNA expression and related quantitative trait loci in the human dorsolateral prefrontal cortex