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Research 121–150 of 1000+
- Homologous recombination induced by doxazosin mesylate and saw palmetto in the <i>Drosophila</i> wing‐spot test
- Histopathological Analysis on keratin2-6 g Expression in Hair Mutant Mouse Hague
- SUN-332 A Rare Case Of Hereditary 1,25 (OH)2D Resistant Rickets
- A Scandinavian case of skin fragility, alopecia and cardiomyopathy caused by<i>DSP</i>mutations
- Autosomal-Dominant Woolly Hair Resulting from Disruption of Keratin 74 (KRT74), a Potential Determinant of Human Hair Texture
- Interplay between fibroblast growth factor 9 (FGF9) and CD44 underlies 46,XY disorders of sex development in Kruppel‐like factor 1 (KLF‐1)‐E325K‐associated congenital dyserythropoietic anaemia (CDA‐IV)
- Expanding the Phenotypic Spectrum of Olmsted Syndrome
- A BIOCHEMICAL MARKER IN A DOMINANT MOUSE TRAIT
- STIM1 R304W in mice causes subgingival hair growth and an increased fraction of trabecular bone
- Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants
- Molecular, immunological, enzymatic and biochemical studies of coproporphyrinogen oxidase deficiency in a family with hereditary coproporphyria.
- <i>GJB6</i> missense variant in a Labrador Retriever with paw pad hyperkeratosis
- Clouston syndrome: A complete genotype–Phenotype correlation after four decades and six generations
- Biotinidase deficiency characterized by skin and hair findings
- Deficient anterior pituitary with common variable immune deficiency (DAVID syndrome): a new case and literature reports
- Semidominant Inheritance in Epidermolytic Ichthyosis
- Novel de novo pathogenic variant in the <i>ODC1</i> gene in a girl with developmental delay, alopecia, and dysmorphic features
- Autosomal recessive hereditary hypotrichosis simplex: A case report
- Recalcitrant Female Pattern Hair Loss Like Alopecia Unveils Unexpected Rare Entity
- 8368 Functional Evaluation Of Novel CYP21A2 Variants: Expanding The Genetic Basis Of Non-classic CAH
- A Neonate with Blisters
- Ichthyosiform Erythroderma, a Multifaceted Syndromic Entity
- Recent advances in the molecular mechanisms causing primary generalized glucocorticoid resistance
- A newborn presenting with congenital blistering
- Clinical and genetic findings in a Chinese family with VDR-associated hereditary vitamin D-resistant rickets
- An unusual presentation of X-linked adrenoleukodystrophy
- Buschke-Ollendorff syndrome
- A variant of the glucocorticoid receptor gene is not associated with adrenal androgen excess in women with polycystic ovary syndrome
- TRPS1 haploinsufficiency results in increased STAT3 and SOX9 mRNA expression in hair follicles in trichorhinophalangeal syndrome
- <i>WNT10A</i> , dermatology and dentistry