Search
for
Sort by
Research 481–510 of 1000+
- 9209 Functional Evaluation Of Novel CYP21A2 Variants: Expanding The Genetic Basis Of Non-classic CAH
- Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex
- Author response: The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome
- Decision letter: The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome
- Alopecia in a Viable Phospholipase C Delta 1 and Phospholipase C Delta 3 Double Mutant
- Keratins: the hair shaft's backbone revealed
- Trichothiodystrophy with Dysmyelination and Central Osteosclerosis
- Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family
- Pathogenesis and management of TRPV3-related Olmsted syndrome
- Loss of adipocyte phospholipase gene PLAAT3 causes lipodystrophy and insulin resistance due to inactivated arachidonic acid-mediated PPARγ signaling
- Independent DSG4 frameshift variants in cats with hair shaft dystrophy
- Molecular Genetics of the PI3K-AKT-mTOR Pathway in Genodermatoses: Diagnostic Implications and Treatment Opportunities
- Pathological Mechanisms Involved in Epidermolysis Bullosa Simplex: Current Knowledge and Therapeutic Perspectives
- A Case of IFAP Syndrome with Severe Atopic Dermatitis
- Genotype-Phenotype Delineation of Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dystrophy in a Pediatric Patient: A Case Report
- Cellular heterogeneity and microenvironmental control of skin cancer
- Functional Characterization of<i>fer-ts</i>, a Temperature-Sensitive FERONIA Mutant Allele That Alters Root Hair Growth
- Thehairless gene of the mouse: Relationship of phenotypic effects with expression profile and genotype
- A novel homozygous variant in the dsp gene underlies the first case of non-syndromic form of alopecia
- Trichothiodystrophy hair shafts display distinct ultrastructural features
- Hereditary Vitamin D Resistant Rickets: Clinical, Laboratory, and Genetic Characteristics of 2 Iranian Siblings
- Interleukin gene polymorphisms and alopecia areata: A systematic review and meta-analysis
- A Case Report and a Review of TRAPPC4‐Related TRAPPopathy
- 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
- Kennedy's disease and partial androgen insensitivity syndrome. Report of 4 cases and literature review
- 8368 Functional Evaluation Of Novel CYP21A2 Variants: Expanding The Genetic Basis Of Non-classic CAH
- 267 Deep phenotyping of patients with xeroderma pigmentosum and trichothiodystrophy
- Divergent genetic mechanism leads to spiny hair in rodents
- <i>WNT10A</i> , dermatology and dentistry