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Research 421–450 of 1000+
- Successful management of Netherton syndrome using IVIG and dupilumab: A case report
- Clinical features and genetic analysis of acrodermatitis enteropathica in an ethnic minority infant from Western China: a case report and literature review
- Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the BSCL2 Gene: Results From the First-year
- Intraretinal variation in disease severity in the Oat mouse model of gyrate atrophy
- Unique Dermatological and Systemic Manifestations in a Classic Pediatric Case of Kindler Syndrome: A Case Report and Literature Review
- Atypical Progeroid Syndrome due to Heterozygous Missense LMNA Mutations
- 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.
- The Role of Interferon-γ in Autoimmune Polyendocrine Syndrome Type 1
- A Founder Mutation in the <i>POMC</i> 5′-UTR Causes Proopiomelanocortin Deficiency Through Splicing-Mediated Decrease of mRNA
- Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population
- Two novel <i>BTD</i> mutations causing profound biotinidase deficiency in a Chinese patient
- Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation
- Case Report:Pregnancy and birth in a mild phenotype of Alström syndrome
- Exploring the efficacy of testosterone undecanoate in male children with 5α‐reductase deficiency
- Generalized atrophic benign epidermolysis bullosa.
- Severe metabolic disorders coexisting with Werner syndrome: a case report
- Topical niacinamide 4% and desonide 0.05% for treatment of axillary hyperpigmentation: a randomized, double-blind, placebo-controlled study
- Ichthyosis, Follicular Atrophoderma, and Hypotrichosis Caused by Mutations in ST14 Is Associated with Impaired Profilaggrin Processing
- Autoimmune polyendocrine syndrome type 1: an Italian survey on 158 patients
- Nuclear Localization of STAT5A Modified with O-Linked N-Acetylglucosamine and Early Involution in the Mammary Gland of Hirosaki Hairless Rat
- Rare Coexistence of Monilethrix and Trichorrhexis Nodosa in a Pediatric Patient: A Case Report
- Uncombable hair improved by biotin
- Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome
- Female Androgenetic (?) Alopecia
- Congenital Adrenal Hyperplasia-Current Insights in Pathophysiology, Diagnostics, and Management.
- FGF5 is a crucial regulator of hair length in humans
- Biotinidase Deficiency: Prevalence, Impact And Management Strategies.
- Severe Skin Permeability Barrier Dysfunction in Knockout Mice Deficient in a Fatty Acid ω-Hydroxylase Crucial to Acylceramide Production
- A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report
- A recently characterized, underdiagnosed cause of female androgenetic alopecia and polycystic ovarian syndrome: non-classical 21 hydroxylase deficiency