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Research 481–510 of 1000+
- Riboflavin-responsive glutaryl CoA dehydrogenase deficiency
- DERMATOLOGIC DISEASES AND PROBLEMS OF WOMEN THROUGHOUT THE LIFE CYCLE
- Signal transducer and activator of transcription 5B deficiency due to a novel missense mutation in the coiled-coil domain
- Reproductive outcomes of female patients with congenital adrenal hyperplasia due to 21-hydroxylase defi ciency
- Localisation and regulation of cholesterol transporters in the human hair follicle: mapping changes across the hair cycle
- Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma
- Novel Vitamin D Receptor Mutations in Hereditary Vitamin D Resistant Rickets in Chinese
- Epicardial Fat Thickness in Children with Classic Congenital Adrenal Hyperplasia
- Focal and Generalized Alopecia
- Disease causing homozygous variants in the human hairless gene
- Hairless controls hair fate decision via Wnt/β–catenin signaling
- Congenital atrichia with papular lesions: a rare cause of irreversible childhood alopecia
- The oestrogen receptor 2 (<i>ESR2</i>) gene in female-pattern hair loss: replication of association with rs10137185 in German patients
- Detection of a Novel Missense Mutations in Atrichia with Papular Lesions
- Hereditary vitamin D resistant rickets (HVDRR) case series: phenotype, genotype, conventional treatment, and adjunctive cinacalcet therapy
- Challenges in the Diagnosis of Simple-Virilizing Congenital Adrenal Hyperplasia: A Case Report
- Hemoglobinopathy and Systemic Lupus: A Rare Association
- Montagna Symposium 2017—Precision Dermatology: Next Generation Prevention, Diagnosis, and Treatment
- 5-Alpha-reductase deficiency in a Saudi "girl"
- Woodhouse-Sakati Syndrome Due to the Rare DCAF17 c.321+1G>A Mutation: The Second Case Report Worldwide
- CDH3 Mutation in Saudi Arabia: A Case of Hypotrichosis With Juvenile Macular Dystrophy
- Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia
- Case Report: Compound heterozygous variants in LSS and TSPEAR genes causing hypotrichosis type 14 complicated with ectodermal dysplasia type 14
- Ichthyosis in Unani Medicine: A Comprehensive Review of Disorders of Cornification and their Modern Dermatological Correlates
- Weeping Wound, Disgruntled Gut and Fading Hunger: Acrodermatitis Enteropathica in an Infant
- A Rare Presentation of Biotinidase Deficiency Mimicking Acrodermatitis Enteropathica in a Toddler
- Netherton Syndrome in a 9-Month-Old Child: Unraveling a Complex Dermatologic Disorder
- Woodhouse-Sakati syndrome: genotype–phenotype review and case of intra-familial heterogeneity
- Localized Hypotrichosis Type 1 Due to Intragenic Deletion of Exons 5-8 in Desmoglein Gene in a Neonate from Indian Family
- A RARE CASE OF VITAMIN D DEPENDENT RICKETS TYPE-2A PRESENTED AS ALOPECIA TOTALIS