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Research 151–180 of 1000+
- Pearly Pinna Papules in a Young Female
- BG01 Confirming small nuclear ribonucleoprotein polypeptide E as a cause of nonsyndromic hypotrichosis
- The Case | Bilateral kidney tumors and lung cysts
- Clinical case of alopecia totalis in pediatric practice
- Role of skin enzymes in metabolism of topical drugs
- Inherited ichthyoses/generalized Mendelian disorders of cornification
- A new mutation resulting in the truncation of the TRAF6-interacting domain of XEDAR: a possible novel cause of hypohidrotic ectodermal dysplasia: Figure 1
- Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan
- Cross-species amplification of human microsatellite markers in pig-tailed and stump-tailed macaques
- Novel <i>RNF113A</i> Variant Underlying X‐Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother
- <i>CCDC47</i> gene and trichohepatoneurodevelopmental syndrome: Report of the fifth and sixth cases from Saudi Arabia
- Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis
- Netherton Syndrome With Trichorrhexis Invaginata “Bamboo Hair” Under Dermoscopy: Case Images
- LBODP010 A Case of Glucocorticoid Resistance Syndrome
- Congenital atrichia and hypotrichosis
- Persistent Hypoglycemia and Macrosomia in a Newborn
- Alopecia Areata: Updates from the Mouse Perspective
- Integration of Point-of-Care Technology in the Decoding Process of Single Nucleotide Polymorphism for Healthcare Application †
- Biotinidase deficiency characterized by skin and hair findings
- Clouston syndrome: A complete genotype–Phenotype correlation after four decades and six generations
- Efficient Gene Editing for Heart Disease via ELIP-Based CRISPR Delivery System
- Genomics
- Case report: NUDT15 polymorphism and severe azathioprine-induced myelosuppression in a young Chinese female with systematic lupus erythematosus: a case analysis and literature review
- The mutational analysis of mitochondrial DNA in maternal inheritance of polycystic ovarian syndrome
- Case report: Acrodermatitis enteropathica result from a novel SLC39A4 gene mutation
- Free Testosterone: Pumping up the Tires or Ending the Free Ride?
- Expanding the Phenotypic Spectrum of APMR4 Syndrome Caused by a Novel Variant in LSS Gene
- Exploring the clinical implications of novel SRD5A2 variants in 46,XY disorders of sex development
- Novel Androgen Receptor Gene Variant Containing a Premature Termination Codon in a Patient with Androgen Insensitivity Syndrome
- Precocious puberty: the unlikely herald of Familial adenomatous polyposis in a young girl