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Research 841–870 of 1000+
- Alopecia in a Novel Mouse Model RCO3 Is Caused by mK6irs1 Deficiency
- Expanding on the phenotypic spectrum of Woodhouse‐Sakati syndrome due to founder pathogenic variant in <i>DCAF17</i>: Report of 58 additional patients from Qatar and literature review
- 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
- 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
- A 15-Year-Old Girl with Trichorhinophalangeal Syndrome Type 1 with Non-ossifying Fibroma in Femur: A Case Report
- 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
- 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
- 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
- Central nervous system involvement in autoimmune polyglandular syndrome
- Two siblings with a novel nonsense mutation, p.R50X, in the vitamin D receptor gene
- Severe metabolic disorders coexisting with Werner syndrome: a case report
- Heterogeneity in the genetic alterations and in the clinical presentation of acrodermatitis enteropathic: Case report and review of the literature
- Case Report:Pregnancy and birth in a mild phenotype of Alström syndrome