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Research 61–90 of 159
- Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements
- PTCH1 Germline Mutations and the Basaloid Follicular Hamartoma Values in the Tumor Spectrum of Basal Cell Carcinoma Syndrome (NBCCS)
- Symmetrical acrokeratoderma: A peculiar entity in China? Clinicopathologic and immunopathologic study of 34 new cases
- Diagnosis and treatment of isolated autosomal recessive woolly hair/hypotrichosis
- An Interesting Case of X-linked Hypohidrotic Ectodermal Dysplasia
- Hypotrichosis 14: novel variants of the LSS gene in five Chinese families and insights from literature review
- Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex
- Integrated multiple machine learning and Mendelian randomization reveal LTF gene as a prognostic biomarker for nonspecific orbital inflammation
- Chronic Ulceration of the Scalp Associated with Genetically Different Types of Congenital Ichthyosis: A Series of Four Cases
- Linc-PINT downregulation of TGF-β signaling pathway in heart arrhythmia: an in silico analysis
- A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness Syndrome
- Inherited ichthyoses/generalized Mendelian disorders of cornification
- Genetics of Inherited Ichthyoses and Related Diseases
- A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome
- Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis
- Loose Anagen Hair Associated with Wooly Hair Caused by a Heterozygous, Intronic KRT71 Variant
- A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle
- Biomedical engineering approaches for the delivery of JAGGED1 as a potential tissue regenerative therapy
- Autosomal-Dominant Woolly Hair Resulting from Disruption of Keratin 74 (KRT74), a Potential Determinant of Human Hair Texture
- New developments in the molecular treatment of ichthyosis: review of the literature
- Bald thigh syndrome in sighthounds—Revisiting the cause of a well-known disease
- Autosomal recessive hereditary hypotrichosis simplex: A case report
- Advances in the treatment of autosomal recessive congenital ichthyosis, a look towards the repositioning of drugs
- Highly Prevalent LIPH Founder Mutations Causing Autosomal Recessive Woolly Hair/Hypotrichosis in Japan and the Genotype/Phenotype Correlations
- Society for Endocrinology guidelines for testosterone replacement therapy in male hypogonadism
- Genetic and other epidemiological risk factors of infants and children with hypospadias: a case control study
- Treatment of hypotrichosis simplex of the scalp with the combination of botanic extracts and minoxidil: a case report
- Ichthyosis with confetti: clinics, molecular genetics and management
- Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants
- Transcriptome Profiling and Differential Gene Expression in Canine Microdissected Anagen and Telogen Hair Follicles and Interfollicular Epidermis