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Research 361–390 of 448
- Bachmann–Bupp syndrome and treatment
- Transgenic mice display hair loss and regrowth overexpressing mutant <i>Hr</i> gene
- How the leopard gets its spots: a transmembrane peptidase specifies feline pigmentation patterns
- Clinical and Molecular Genetic Findings of Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
- Spink5-deficient mice mimic Netherton syndrome through degradation of desmoglein 1 by epidermal protease hyperactivity
- Cantú Syndrome Is Caused by Mutations in ABCC9
- Pulmonary manifestations of Birt-Hogg-Dubé syndrome
- Biotinidase Deficiency: Prevalence, Impact And Management Strategies.
- A Missense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia in a Family of Irish Travellers
- The molecular basis of human keratin disorders
- Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis
- Clinical biochemistry of dihydrotestosterone
- Characterization of hairless (Hr) and FGF5genes provides insights into the molecular basis of hair loss in cetaceans
- Polymorphisms in the Human High Sulfur Hair Keratin-associated Protein 1, KAP1, Gene Family
- Hair Defects and Pup Loss in Mice with Targeted Deletion of the First Cut Repeat Domain of theCux/CDPHomeoprotein Gene
- Pseudoxanthoma Elasticum: Progress in Research Toward Treatment: Summary of the 2012 PXE International Research Meeting
- Hair Bundle Defects and Loss of Function in the Vestibular End Organs of Mice Lacking the Receptor-Like Inositol Lipid Phosphatase PTPRQ
- A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis
- Myotonic Dystrophy—A Progeroid Disease?
- 5-α-Reductase type 2 deficiency: is there a genotype-phenotype correlation? A review
- Recently Identified Forms of Epidermolysis Bullosa
- Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex
- Ornithine decarboxylase expression in cutaneous papillomas in SENCAR mice is associated with altered expression of keratins 1 and 10.
- Genetic Hair Disorders: A Review
- Mutations in the vitamin D receptor gene in four patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets
- New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report
- Novel Mutations in X-Linked Dominant Chondrodysplasia Punctata (CDPX2)
- Rare Germline Pathogenic Variants Identified by Multigene Panel Testing and the Risk of Aggressive Prostate Cancer
- Recessive Epidermolysis Bullosa Simplex Phenotype Reproduced in Vitro
- Systematic analysis of somatic mutations driving cancer: uncovering functional protein regions in disease development