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Research 121–150 of 1000+
- The Role of Vitamin D in Non-Scarring Alopecia
- A Founder Mutation in the <i>POMC</i> 5′-UTR Causes Proopiomelanocortin Deficiency Through Splicing-Mediated Decrease of mRNA
- Loss of Ten1 in mice induces telomere shortening and models human dyskeratosis congenita
- Forme létale de syndrome de Netherton au sein d’une famille multiplex consanguine
- Epidermolysis Bullosa Simplex Caused by Distal Truncation of BPAG1-e: An Intermediate Generalized Phenotype with Prurigo Papules
- A Splice Site Mutation in the Gene of the Human Type I Hair Keratin hHa1 Results in the Expression of a Tailless Keratin Isoform
- From bedside to bench: regulation of host factors in SARS-CoV-2 infection
- Case report: Heterozygous mutation in HTRA1 causing typical cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
- ZNF750 safeguards upper hair follicle homeostasis to prevent inflammatory skin disease
- Genotype–Phenotype Correlation in Children With Congenital Adrenal Hyperplasia due to 21‐Hydroxylase Deficiency Using Next Generation Sequencing
- A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix
- A Missense Mutation within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis
- Strategies for High-Efficiency Mutation Using the CRISPR/Cas System
- Successful management of Netherton syndrome using IVIG and dupilumab: A case report
- <i>Pseudomonas aeruginosa</i> heme metabolites biliverdin IXβ and IXδ are integral to lifestyle adaptations associated with chronic infection
- A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis
- The Genetic Landscape of Androgenetic Alopecia: Current Knowledge and Future Perspectives
- Novel splicing‐site mutation in <i>DCAF17</i> gene causing Woodhouse‐Sakati syndrome in a large consanguineous family
- Deficient anterior pituitary with common variable immune deficiency (DAVID syndrome): a new case and literature reports
- Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia
- Ehlers-Danlos syndrome: From bedside to bench
- The Search for the Causes of Common Hyperandrogenism, 1965 to Circa 2015
- Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA)
- Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles
- Regulatory T cells in dominant immunologic tolerance
- Male infertility and genitourinary birth defects: there is more than meets the eye
- A Novel Missense Mutation Affecting the Human Hairless Thyroid Receptor Interacting Domain 2 Causes Congenital Atrichia
- Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation
- SASH1 Mutations and Hereditary Disorders of Pigmentation: Review of Literature
- Identification of Novel Mutations in Basic Hair Keratins hHb1 and hHb6 in Monilethrix: Implications for Protein Structure and Clinical Phenotype