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Research 481–510 of 1000+
- Exploring the clinical implications of novel SRD5A2 variants in 46,XY disorders of sex development
- Fast Motions in 5 Alpha Reductase and Its Impact on Enzyme Kinetics
- Congenital Adrenal Hyperplasia
- Biotinidase Deficiency: Prevalence, Impact And Management Strategies.
- Disorders of Keratinization
- Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin
- Ichthyosis and Trichothiodystrophy: the Tay and PIBI(D)S Syndromes
- A recently characterized, underdiagnosed cause of female androgenetic alopecia and polycystic ovarian syndrome: non-classical 21 hydroxylase deficiency
- Editorial: Mechanisms and novel treatments of pigmentary disorders and skin regeneration
- Epidermolysis bullosa simplex: a paradigm for disorders of tissue fragility
- Genetic Disorders and Defects in Vitamin D Action
- 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
- 6874 A Rare Case Of Hereditary 1,25 (OH)2D Resistant Rickets
- Moniletrix of the scalp from almost normal aspect to total alopecia: variable intrafamilial expressiveness
- Whitaker syndrome: A case report of autoimmune polyendocrine syndrome type 1 with dilated cardiomyopathy
- Myotonic Dystrophy—A Progeroid Disease?
- An epistatic effect of KRT25 on SP6 is involved in curly coat in horses
- Analogs of human genetic skin disease in domesticated animals
- Converging physiological roles of the anthrax toxin receptors
- Beyond Wavy Hairs
- FOXN1: A Master Regulator Gene of Thymic Epithelial Development Program
- Clinical and Molecular Genetic Findings of Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
- <i>GJB6</i> missense variant in a Labrador Retriever with paw pad hyperkeratosis
- Ectodermal Dysplasia: Variable Expressions
- Treatment of hypotrichosis simplex of the scalp with the combination of botanic extracts and minoxidil: a case report
- Cutaneous Manifestations in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED): A Comprehensive Review
- Genetics of Alopecia
- Pilomatricoma in Syndromic Contexts: A Literature Review and a Report of a Case in Apert Syndrome
- Steatocystoma Multiplex