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Research 121–150 of 802
- 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
- Analysis of the relationship between the mutation site of the SLC39A4 gene and acrodermatitis enteropathica by reporting a rare Chinese twin: a case report and review of the literature
- 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
- Genome-wide meta-analysis implicates mediators of hair follicle development and morphogenesis in risk for severe acne
- 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
- A Monoallelic Two-Hit Mechanism in PLCD1 Explains the Genetic Pathogenesis of Hereditary Trichilemmal Cyst Formation
- 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
- The β9 Loop Domain of PA-PLA1α Has a Crucial Role in Autosomal Recessive Woolly Hair/Hypotrichosis
- Regulation of feather follicle development and Msx2 gene SNP degradation in Hungarian white goose
- Case report: Exploring autosomal recessive woolly hair: genetic and scanning electron microscopic perspectives on a Japanese patient