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Research 451–480 of 1000+
- Pathogenesis and management of TRPV3-related Olmsted syndrome
- Pathological Mechanisms Involved in Epidermolysis Bullosa Simplex: Current Knowledge and Therapeutic Perspectives
- Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex
- Hereditary Vitamin D Resistant Rickets: Clinical, Laboratory, and Genetic Characteristics of 2 Iranian Siblings
- Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family
- A Case Report and a Review of TRAPPC4‐Related TRAPPopathy
- Recalcitrant Female Pattern Hair Loss Like Alopecia Unveils Unexpected Rare Entity
- A Case of IFAP Syndrome with Severe Atopic Dermatitis
- Molecular Genetics of the PI3K-AKT-mTOR Pathway in Genodermatoses: Diagnostic Implications and Treatment Opportunities
- Novel <i>RNF113A</i> Variant Underlying X‐Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother
- SUN-332 A Rare Case Of Hereditary 1,25 (OH)2D Resistant Rickets
- 8368 Functional Evaluation Of Novel CYP21A2 Variants: Expanding The Genetic Basis Of Non-classic CAH
- Successful plasmapheresis and immunoglobulin treatment for severe lipid storage myopathy: Doing the right thing for the wrong reason
- Short-term Efficacy of Tofacitinib, a JAK Inhibitor, in IFIH1-related Aicardi-Goutières Syndrome
- Alopecia in Patients with Collagen VI-Related Myopathies: A Novel/Unrecognized Scalp Phenotype
- A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2
- HtrA1L364P leads to cognitive dysfunction and vascular destruction through TGF‐β/Smad signaling pathway in CARASIL model mice
- Successful management of Netherton syndrome using IVIG and dupilumab: A case report
- 068 Association of systemic involvement with skin morphology assessed by multiphoton microscopy in pseudoxanthoma elasticum
- Alopecia in a Novel Mouse Model RCO3 Is Caused by mK6irs1 Deficiency
- 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”
- Genotype–Phenotype Correlation in Children With Congenital Adrenal Hyperplasia due to 21‐Hydroxylase Deficiency Using Next Generation Sequencing
- Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature
- The Role of the Hairless (hr) Gene in the. Regulation of Hair Follicle Catagen Transformation
- Premature aging syndromes: From patients to mechanism
- Clinical Features and Current Therapeutic Approaches to Monilethrix: A Systematic Review
- Generalized atrophic benign epidermolysis bullosa.
- Netherton Syndrome With Trichorrhexis Invaginata “Bamboo Hair” Under Dermoscopy: Case Images
- New clinico‐genetic classification of trichothiodystrophy