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Research 91–120 of 802
- A Novel Missense Mutation Affecting the Human Hairless Thyroid Receptor Interacting Domain 2 Causes Congenital Atrichia
- Skipping of Exons by Premature Termination of Transcription and Alternative Splicing within Intron-5 of the Sheep SCF Gene: A Novel Splice Variant
- Genetic variations associated with response to dutasteride in the treatment of male subjects with androgenetic alopecia
- Homozygous missense mutation in the<i>LIPH</i>gene causing autosomal recessive hypotrichosis simplex in a Chinese patient
- 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
- Independent DSG4 frameshift variants in cats with hair shaft dystrophy
- Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis
- Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases
- De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia
- Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome
- Nonalcoholic fatty liver disease and polycystic ovary syndrome
- EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency
- A Missense Mutation in the Cadherin Interaction Site of The Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis
- Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan
- Analysis of Copy Number Variation in the Whole Genome of Normal-Haired and Long-Haired Tianzhu White Yaks
- Case report: Novel p.Val306Met missense mutation in TRPV3 in a case of Olmsted syndrome accompanied by squamous cell carcinoma
- A missense mutation in Lama3 causes androgen alopecia
- Alopecia areata susceptibility variant in MHC region impacts expressions of genes contributing to hair keratinization and is involved in hair loss
- A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle
- Novel genes and variants associated with longevity in Bulgarian centenarians revealed by whole exome sequencing DNA pools: a pilot study
- 464 Phenotypic heterogeneity of epidermolysis bullosa associated with the recurrent pathogenic variant p.(Arg2000Trp) in plectin
- Atypical Progeroid Syndrome due to Heterozygous Missense LMNA Mutations
- A Mosaic Hotspot <i>PLCD1</i> Variant, Detectable in Blood‐Derived DNA, Associated With Nevus Trichilemmocysticus
- Exomic Sequencing of Immune-Related Genes Reveals Novel Candidate Variants Associated with Alopecia Universalis
- Resequencing and Signatures of Selective Scans Point to Candidate Genetic Variants for Hair Length Traits in Long-Haired and Normal-Haired Tianzhu White Yak
- CTLA4 +49AG (rs231775) and CT60 (rs3087243) gene variants are not associated with alopecia areata in a Mexican population from Monterrey Mexico
- Global Landscapes of Human Phenotypic Variation in Inherited Traits
- Case Report: A novel KRT74 variant in an eight-year-old boy with alopecia totalis successfully treated with baricitinib
- Dissecting the genetic variations associated with response to first-line chemotherapy in patients with small cell lung cancer: a retrospective cohort study
- Whole exome sequencing in Alopecia Areata identifies rare variants in KRT82