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Research 91–120 of 1000+
- Germline Mutation in ATR in Autosomal- Dominant Oropharyngeal Cancer Syndrome
- A novel mutation in the connexin 26 gene (<i>GJB2</i>) in a child with clinical and histological features of keratitis–ichthyosis–deafness (KID) syndrome
- Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype
- Atrichia with papular lesions resulting from mutations in the rhesus macaque (<i>Macaca mulatta</i>) <i>hairless</i> gene
- Cystatin M/E Variant Causes Autosomal Dominant Keratosis Follicularis Spinulosa Decalvans by Dysregulating Cathepsins L and V
- 882 Syndactyly type III and hypotrichosis in oculodentodigital syndrome with GJA1 mutation
- Effect of Platelet-Rich Plasma (PRP) on Dermal Skin Flap Survival: An Experimental Study in Rats
- Novel Vitamin D Receptor Mutations in Hereditary Vitamin D Resistant Rickets in Chinese
- De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia
- The possible implication of the S250C variant of the autoimmune regulator protein in a patient with autoimmunity and immunodeficiency: in silico analysis suggests a molecular pathogenic mechanism for the variant
- A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix
- Hemoglobinopathy and Systemic Lupus: A Rare Association
- Congenital Zinc Deficiency from Mutations of the<i>SLC39A4</i>Gene as the Genetic Background of Acrodermatitis Enteropathica
- Case Report: PTCH1 splice-site mutation and sonidegib treatment in Gorlin-Goltz syndrome: clinical insights from a family case study
- SUN-332 A Rare Case Of Hereditary 1,25 (OH)2D Resistant Rickets
- Multiple facial atrophic scars in childhood
- A rare manifestation of STING-associated vasculopathy with onset in infancy: a case report
- Monilethrix: a keratin hHb6 mutation is co‐dominant with variable expression
- A Scandinavian case of skin fragility, alopecia and cardiomyopathy caused by<i>DSP</i>mutations
- The efficacy and safety of valproic acid medications with controlled active ingredient release in adults in real clinical practice from the position of pharmacokinetic and pharmacogenetic approaches
- Congenital Generalized Hypertrichosis Terminalis with Gingival Hyperplasia and a Coarse Face: a Case Report
- Genetics underlying phenotypic diversity in South African sheep breeds
- 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)
- Autosomal-Dominant Woolly Hair Resulting from Disruption of Keratin 74 (KRT74), a Potential Determinant of Human Hair Texture
- Mutations in γ-secretase subunit–encoding PSENEN underlie Dowling-Degos disease associated with acne inversa
- Insertional mutation of the hairless locus on mouse Chromosome 14
- Marie Unna hereditary hypotrichosis caused by a novel mutation in the human hairless transcript
- The β9 Loop Domain of PA-PLA1α Has a Crucial Role in Autosomal Recessive Woolly Hair/Hypotrichosis
- Expanding the Phenotypic Spectrum of Olmsted Syndrome
- SAT0200 UNUSUAL SYSTEMIC LUPUS ERYTHEMATOSUS/SJOEGREN'S SYNDROME PHENOTYPE IN A PATIENT WITH A TNFAIP3 GENE MUTATION