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Research 271–300 of 1000+
- Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome
- New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report
- Atrichia with papular lesions in two Pakistani consanguineous families resulting from mutations in the human hairless gene
- Presence of a Deletion Mutation (c.716delA) in the Ligand Binding Domain of the Vitamin D Receptor in an Indian Patient with Vitamin D-Dependent Rickets Type II
- Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome
- Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia in four Egyptian families: report of three novel mutations in the vitamin D receptor gene
- The mouse hairy ears mutation exhibits an extended growth (anagen) phase in hair follicles and altered <i>Hoxc</i> gene expression in the ears
- Identification of 736T>A mutation of lipase H in Japanese siblings with autosomal recessive woolly hair
- Exploring the efficacy of testosterone undecanoate in male children with 5α‐reductase deficiency
- Next-generation Sequencing Identified a Novel EDA Mutation in a Chinese Pedigree of Hypohidrotic Ectodermal Dysplasia with Hyperplasia of the Sebaceous Glands
- PNKP is required for maintaining the integrity of progenitor cell populations in adult mice
- Efficacy and safety of SGLT2 inhibitor on insulin resistance and hyperglycemia in Werner syndrome—A case report
- Identifying 17-β-HSD3 Deficiency in Patients with Karyotype 46,XY Misdiagnosed with Androgen Insensitivity Syndrome: A Pediatric Case Report
- Case report: Exploring autosomal recessive woolly hair: genetic and scanning electron microscopic perspectives on a Japanese patient
- Clinical and molecular features in a cohort of Middle Eastern patients with epidermolysis bullosa
- Role of <i>foxn1</i> in <i>Xenopus laevis</i> thymopoiesis.
- Collodion baby to bathing suit ichthyosis: A 6-year follow-up
- 414 A new form of ectodermal dysplasia caused by mutations in TSPEAR
- Over-, ectopic-expression of FoxN1 at early life adversely influences lymphopoiesis (HEM3P.280)
- FoxN1 in K14 promoter-driven epithelium is required for generation and maintenance of 3D-thymus medulla and preventing nude phenotype in the skin (36.33)
- Enriching Proteolysis Targeting Chimeras with a Second Modality: When Two Are Better Than One
- Autophagy critically controls skin inflammation and apoptosis-induced stem cell activation
- Autotaxin-LPA signaling contributes to obesity-induced insulin resistance in muscle and impairs mitochondrial metabolism
- Aging of the hair follicle pigmentation system
- Ashwagandha root in the treatment of non-classical adrenal hyperplasia
- Genotype–Phenotype Correlation in Children With Congenital Adrenal Hyperplasia due to 21‐Hydroxylase Deficiency Using Next Generation Sequencing
- SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder
- Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023)
- Congenital atrichia with papular lesions
- Netherton syndrome: effect on ichthyosis linearis circumflexa with dupilumab