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Research 30 of 63
- Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants
- Case Report: Bi-allelic missense variant in the desmocollin 3 gene causes hypotrichosis and recurrent skin vesicles
- Whole genome sequencing analysis of alpaca suggests TRPV3 as a candidate gene for the suri phenotype
- Hair of the Dog: Identification of a Cis-Regulatory Module Predicted to Influence Canine Coat Composition
- The Rotterdam Study: 2018 update on objectives, design and main results
- The Rotterdam Study: 2016 objectives and design update
- A curated catalog of canine and equine keratin genes
- Deciphering principles of morphogenesis from temporal and spatial patterns on the integument
- 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
- Exome-wide age-of-onset analysis reveals exonic variants in ERN1 and SPPL2C associated with Alzheimer’s disease
- A frameshift insertion in SGK3 leads to recessive hairlessness in Scottish Deerhounds: a candidate gene for human alopecia conditions
- Cost-effectively dissecting the genetic architecture of complex wool traits in rabbits by low-coverage sequencing
- The genetic basis of dermatophytosis skin infection susceptibility
- Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia
- A partially automated method for DNA extraction from marmoset hair follicles to avoid blood chimerism
- Understanding Polycystic Ovary Syndrome
- Ethnomycological Study of Macrofungi Utilized by Pamona Community Around Lake Poso, Central Sulawesi Province, Indonesia
- IV Międzynarodowe Sympozjum Studenckich Kół Naukowych Środowisko – Roślina – Zwierzę – Produkt Streszczenia
- Generation of an integration-free human induced pluripotent stem cell line MUSIi010-A from occipital scalp fibroblasts of a male patient with androgenetic alopecia
- A conditional multi-trait sequence GWAS discovers pleiotropic candidate genes and variants for sheep wool, skin wrinkle and breech cover traits
- Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA)
- <i>GJB6</i> missense variant in a Labrador Retriever with paw pad hyperkeratosis
- The Rotterdam Study: objectives and design update
- Drug Repurposing for Rare Diseases
- Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2
- Recent advances in Forensic DNA Phenotyping of appearance, ancestry and age
- Goat Genomic Resources: The Search for Genes Associated with Its Economic Traits
- Position effect on <i>FGF13</i> associated with X-linked congenital generalized hypertrichosis
- Comparative genome analyses reveal the unique genetic composition and selection signals underlying the phenotypic characteristics of three Chinese domestic goat breeds
- The crest phenotype in domestic chicken is caused by a 195 bp duplication in the intron of <i>HOXC10</i>