Search
for
Sort by
Research 931–960 of 1000+
- A frameshift mutation in HTRA1 expands CARASIL syndrome and peripheral small arterial disease to the Chinese population
- Angora Mouse Mutation: Altered Hair Cycle, Follicular Dystrophy, Phenotypic Maintenance of Skin Grafts, and Changes in Keratin Expression
- Impaired Hair Follicle Morphogenesis and Cycling with Abnormal Epidermal Differentiation in nackt Mice, a Cathepsin L-Deficient Mutation
- Nagashima-Type Palmoplantar Keratosis: A Common Asian Type Caused by SERPINB7 Protease Inhibitor Deficiency
- Transgenic Kallikrein 14 Mice Display Major Hair Shaft Defects Associated with Desmoglein 3 and 4 Degradation, Abnormal Epidermal Differentiation, and IL-36 Signature
- Trichothiodystrophy without associated neuroectodermal features in two siblings
- A Case to Tear One's Hair Out: Trichotillomania in Wilson's Disease
- Writer’s Cramp Presentation of Woodhouse–Sakati Syndrome – “Out of the Woods”
- Delayed Diagnosis of Congenital Adrenal Hyperplasia Due to 3β-Hydroxysteroid Dehydrogenase Type 2 Deficiency
- Successful Management of Netherton Syndrome Using IVIG and Dupilumab: A Case Report
- Acrodermatitis Enteropathica: A Case Report Involving a Delayed Diagnosis
- 068 Association of systemic involvement with skin morphology assessed by multiphoton microscopy in pseudoxanthoma elasticum
- Early Onset Werner Syndrome
- 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
- 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
- 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
- Alopecia with Vitamin D-Dependent Rickets Type 2 A: A Case Report
- Atypical Progeroid Syndrome due to Heterozygous Missense LMNA Mutations
- 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