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Research 961–990 of 1000+
- Discreet monilethrix: De novo mutation on the example of polish families
- Ultra‐structural hair alterations in Friedreich's ataxia: A scanning electron microscopic investigation
- Erythromelanosis Follicularis Faciei: First Case Report from Saudi Arabia
- Genotype-Phenotype Delineation of Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dystrophy in a Pediatric Patient: A Case Report
- <i>GJB6</i> missense variant in a Labrador Retriever with paw pad hyperkeratosis
- Novel <i>RNF113A</i> Variant Underlying X‐Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother
- APECED: JAK Inhibition in an Adult Case with Long-Term Follow-up
- Zinc-responsive Acral Hyperkeratosis as a Sequele of Acrodermatitis Enteropathica
- Identifying 17-β-HSD3 Deficiency in Patients with Karyotype 46,XY Misdiagnosed with Androgen Insensitivity Syndrome: A Pediatric Case Report
- Persistent hyperparathyroidism in vitamin D-dependent rickets type 2A does not prevent normalization of hypophosphatemia or healing of the rickets
- Zinc transporter ZIP13 G289R variant from Spondylocheirodysplastic Ehlers-Danlos syndrome (SCD-EDS) is associated with abnormal hair quality
- Treatment of hypotrichosis simplex of the scalp with the combination of botanic extracts and minoxidil: a case report
- Identification of a Rare Variant in the <i>SRD5A2</i> Gene in Siblings With 46,XY Disorders of Sexual Development
- Pathogenesis and management of TRPV3-related Olmsted syndrome
- Navaratnas in Dermatology
- 6874 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
- 9209 Functional Evaluation Of Novel CYP21A2 Variants: Expanding The Genetic Basis Of Non-classic CAH
- SUN-332 A Rare Case Of Hereditary 1,25 (OH)2D Resistant Rickets
- Whitaker syndrome: A case report of autoimmune polyendocrine syndrome type 1 with dilated cardiomyopathy
- Clinicopathologic Case 2: Multiple Intraoral White Lesions in a 55-year-old Female
- Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review
- eLife assessment: CaBP1 and 2 enable sustained CaV1.3 calcium currents and synaptic transmission in inner hair cells
- CaBP1 and 2 enable sustained CaV1.3 calcium currents and synaptic transmission in inner hair cells
- Cutaneous Manifestations in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED): A Comprehensive Review
- Effects of Androgen Treatment on Growth in Patients with 5-α-Reductase Type 2 Deficiency
- A novel pathogenic variant of NECTIN4 gene in a child with ectodermal dysplasia-syndactyly syndrome
- Acquired Acrodermatitis Enteropathica in an Infant
- Recurrent pruritic polymorphic lesions associated with weight loss
- Collodion baby to bathing suit ichthyosis: A 6-year follow-up