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Research 571–600 of 1000+
- Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature
- Further Insights in Trichothiodistrophy: A Clinical, Microscopic, and Ultrastructural Study of 20 Cases and Literature Review
- Trichothiodystrophy: Current Concepts
- Writer’s Cramp Presentation of Woodhouse–Sakati Syndrome – “Out of the Woods”
- Genotype–Phenotype Correlation in Children With Congenital Adrenal Hyperplasia due to 21‐Hydroxylase Deficiency Using Next Generation Sequencing
- 증례 : 모발의 황 농도 감소를 보인 모발유황이영양증
- Premature aging syndromes: From patients to mechanism
- Fast Motions in 5 Alpha Reductase and Its Impact on Enzyme Kinetics
- Vitamin D dependent rickets type 2: a case-based review of patient with alopecia and rickets
- Clinical Features and Current Therapeutic Approaches to Monilethrix: A Systematic Review
- Genetics
- An unusual presentation of X-linked adrenoleukodystrophy
- Bachmann–Bupp syndrome and treatment
- Do Changes in Chromosomes Cause Aging?
- New clinico‐genetic classification of trichothiodystrophy
- Generalized atrophic benign epidermolysis bullosa.
- Disorders of Keratinization
- Trichoscopy as a diagnostic tool in trichorrhexis invaginata and Netherton syndrome
- Exploring the clinical implications of novel SRD5A2 variants in 46,XY disorders of sex development
- Ichthyosis and Trichothiodystrophy: the Tay and PIBI(D)S Syndromes
- Netherton Syndrome With Trichorrhexis Invaginata “Bamboo Hair” Under Dermoscopy: Case Images
- Congenital Adrenal Hyperplasia
- Abstract CN06-04: The hedgehog signaling pathway in cancer.
- Two Hypomorphic Alleles of Mouse Ass1 as a New Animal Model of Citrullinemia Type I and Other Hyperammonemic Syndromes
- Epidermolysis bullosa simplex: a paradigm for disorders of tissue fragility
- Genetic Disorders and Defects in Vitamin D Action
- Biotinidase Deficiency: Prevalence, Impact And Management Strategies.
- Inherited ichthyoses/generalized Mendelian disorders of cornification
- Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Barrier Dysfunction
- Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin