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Research 901–930 of 1000+
- Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2
- Challenges in treatment of patients with non-classic congenital adrenal hyperplasia
- Measuring steroids in hair opens up possibilities to identify congenital adrenal hyperplasia in developing countries
- Heterozygous Variants of the SLC39A4 Gene and Possible Increased Risk for Developing Acrodermatitis Enteropathica with Kaposi’s Varicelliform Eruption
- 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
- Unique Dermatological and Systemic Manifestations in a Classic Pediatric Case of Kindler Syndrome: A Case Report and Literature Review
- Alopecia with Vitamin D-Dependent Rickets Type 2 A: A Case Report
- Supplementary material from "Giant axonal neuropathy alters the structure of keratin intermediate filaments in human hair"
- 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.
- Genotype–Phenotype Correlation in Children With Congenital Adrenal Hyperplasia due to 21‐Hydroxylase Deficiency Using Next Generation Sequencing
- The Role of Interferon-γ in Autoimmune Polyendocrine Syndrome Type 1
- Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature
- A combination of low-dose systemic etretinate and topical calcipotriol/betamethasone dipropionate treatment for hyperkeratosis and itching in Olmsted syndrome associated with a TRPV3 mutation
- 461 Identification of a Novel Pathogenic XPC:c.2420+1G>C Variant in a Patient with Xeroderma Pigmentosum
- Intraretinal variation in disease severity in the Oat mouse model of gyrate atrophy
- Vulvovaginal involvement in Netherton syndrome: A case report
- 574 A deep learning classifier for the analysis of tiger tail banding in trichothiodystrophy
- Cloning of wrinkle-free, a previously uncharacterized mouse mutation, reveals crucial roles for fatty acid transport protein 4 in skin and hair development
- Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population
- Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation
- Ovarian steroid cell tumor in a teenager masquerading as polycystic ovary syndrome: a case report and literature review
- De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia
- Ichthyosis, Follicular Atrophoderma, and Hypotrichosis Caused by Mutations in ST14 Is Associated with Impaired Profilaggrin Processing
- Generalized atrophic benign epidermolysis bullosa.
- Autoimmune polyendocrine syndrome type 1: an Italian survey on 158 patients
- Atrichia with papular lesions resulting from mutations in the rhesus macaque (<i>Macaca mulatta</i>) <i>hairless</i> gene
- Nuclear Localization of STAT5A Modified with O-Linked N-Acetylglucosamine and Early Involution in the Mammary Gland of Hirosaki Hairless Rat
- Congenital Zinc Deficiency from Mutations of the<i>SLC39A4</i>Gene as the Genetic Background of Acrodermatitis Enteropathica
- Variant 1859G→A (Arg620Gln) of the “Hairless” Gene: Absence of Association with Papular Atrichia or Androgenetic Alopecia