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Research 121–150 of 836
- 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
- Grey, curly and short-haired Swiss Holstein cattle show genetic traces of the Simmental breed
- 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
- EBS in Children with De Novo Pathogenic Variants Disturbing Krt14
- Exploring the clinical implications of novel SRD5A2 variants in 46,XY disorders of sex development
- In Silico Characterization and Analysis of Clinically Significant Variants of Lipase-H (LIPH Gene) Protein Associated with Hypotrichosis
- A conditional multi-trait sequence GWAS discovers pleiotropic candidate genes and variants for sheep wool, skin wrinkle and breech cover traits
- Azathioprine‐induced severe myelosuppression accompanied by massive hair loss and painful oral ulcer in an autoimmune hepatitis patient with <i>NUDT15</i> minor variant: A case report
- The mouse frizzy (<i>fr</i>) and rat ‘hairless’ (<i>fr</i><sup><i>CR</i></sup>) mutations are natural variants of protease serine S1 family member 8 (<i>Prss8</i>)
- Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in <i>TRPV3</i> Gene
- Comparative histomorphometric and transcriptomic analysis reveals potential genetic determinants of pelage variation between hairy and coarse-woolly sheep
- Modeling animal genomics in mice: An authentic approach for the functional interrogation of evolutionarily and agriculturally critical variants
- The Telomerase Reverse Transcriptase (TERT) Gene Molecular Characterization in Sheep and the Association of Its Variation with Wool Traits
- Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants
- New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report
- Clinical and Molecular Diagnostic Criteria of Congenital Atrichia with Papular Lesions11This paper originally appeared in issue 117:1662–1665, 2001. Following publication the authors indicated that important corrections at page proof were not taken in. To ensure that the paper is published as intended, the editors have decided to reproduce the contents in full.
- Novel Hairless Mutations in Two Kindreds with Autosomal Recessive Papular Atrichia
- Identification of compound heterozygous mutations in <i>AP1B1</i> leading to the newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome
- Congenital atrichia with papular lesions resulting from novel mutations in human hairless gene in four consanguineous families
- KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies
- Rare and common genetic determinants of metabolic individuality and their effects on human health
- High-throughput Sequencing to Identify Monogenic Etiologies in a Preselected Polycystic Ovary Syndrome Cohort
- Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters
- Genome-wide detection of RNA editing events during the hair follicles cycle of Tianzhu white yak
- Four hypotrichosis families with mutations in the gene <i>LSS</i> presenting with and without neurodevelopmental phenotypes
- A Novel Mutation in the<i>MBTPS2</i>Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
- Congenital Zinc Deficiency from Mutations of the<i>SLC39A4</i>Gene as the Genetic Background of Acrodermatitis Enteropathica