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Research 331–360 of 339
- Poster presentationsSG11 KRT14 pathogenic or likely pathogenic variants beyond epidermolysis bullosa: dermatopathia pigmentosa reticularis
- Targeted Inactivation of Gh/Tissue Transglutaminase II
- Characterization of a First Domain of Human High Glycine-Tyrosine and High Sulfur Keratin-associated Protein (KAP) Genes on Chromosome 21q22.1
- The RpoS Gatekeeper in Borrelia burgdorferi: An Invariant Regulatory Scheme That Promotes Spirochete Persistence in Reservoir Hosts and Niche Diversity
- Autosomal recessive monilethrix: Novel variants of the <i>DSG4</i> gene in three Chinese families
- Decision‐Making Regarding the Administration of Live Vaccines to Patients With a <i>FOXN1</i> Heterozygous Missense Variant
- P448: Identification of a novel RPS6KA3 variant in a female child with features of Coffin-Lowry syndrome: A case study
- On the Role of Melatonin in Skin Physiology and Pathology
- Efficacy and safety of platelet-rich plasma for acute nonarteritic anterior ischemic optic neuropathy: a prospective cohort study
- A Homozygous Frameshift Mutation in the<i>HOXC13</i>Gene Underlies Pure Hair and Nail Ectodermal Dysplasia in a Syrian Family
- A frameshift mutation in HTRA1 expands CARASIL syndrome and peripheral small arterial disease to the Chinese population
- Novel frameshift mutation in TRPS1 in a ukrainian patient with trichorhinophalangeal syndrome type I
- Localized Autosomal Recessive Hypotrichosis Due to a Frameshift Mutation in the Desmoglein 4 Gene Exhibits Extensive Phenotypic Variability within a Pakistani Family
- A frameshift mutation in the TRPS1 gene showing a mild phenotype of trichorhinophalangeal syndrome type 1
- A new compound heterozygous frameshift mutation in the type II 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) gene causes salt-wasting 3 beta-HSD deficiency congenital adrenal hyperplasia.
- Gender-Difference in Hair Length as Revealed by Crispr-Based Production of Long-Haired Mice with Dysfunctional FGF5 Mutations
- Case report: Acrodermatitis enteropathica result from a novel SLC39A4 gene mutation
- New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report
- Atrichia with papular lesions resulting from a novel insertion mutation in the human hairless gene
- Identification of compound heterozygous mutations in <i>AP1B1</i> leading to the newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome
- Autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations: a case report
- 157 Analysis of the hybrid schwannoma and neurofibroma including a case report of schwannomatosis caused by a mutation in the LZTR1 gene
- Novel splice site mutation in the <i>LIPH</i> gene in a patient with autosomal recessive woolly hair/hypotrichosis: Case report and published work review
- Novel small‐insertion mutation in the <i>LIPH</i> gene in a patient with autosomal recessive woolly hair/hypotrichosis
- The Phenotypic and Genotypic Spectra of Ichthyosis With Confetti Plus Novel Genetic Variation in the 3′ End of<i>KRT10</i>
- Severe metabolic disorders coexisting with Werner syndrome: a case report
- A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle
- Hypoparathyroidism as the single major component for decades of autoimmune polyglandular syndrome type 1
- Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?
- Relationship of a Novel c.429delC Deletion in Hairless Gene HR with Alopecia in Two Families from Southern Punjab, Pakistan