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Research 931–960 of 1000+
- Two Hypomorphic Alleles of Mouse Ass1 as a New Animal Model of Citrullinemia Type I and Other Hyperammonemic Syndromes
- A homozygous missense variant in type I keratin <i>KRT25</i> causes autosomal recessive woolly hair
- Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis
- Pvalb8, a Type of Oncomodulin, Regulates Neuromast Development and Auditory Function in Zebrafish
- The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome
- 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)
- A young male with kidney damage from genetic mitochondrial disease: case report and literature review
- p63 in skin homeostasis and disease: molecular mechanisms and therapeutic potentials
- The function of TRPS1 in the development and differentiation of bone, kidney, and hair follicles.
- KERATINS AND SKIN DISORDERS
- Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Barrier Dysfunction
- Animal models of human skin disease
- The Tumor Suppressor Actions of the Vitamin D Receptor in Skin
- <i>GJB6</i> missense variant in a Labrador Retriever with paw pad hyperkeratosis
- Frontotemporal dementia with parkinsonism presenting as posterior cortical atrophy
- Exploring the clinical implications of novel SRD5A2 variants in 46,XY disorders of sex development
- The color of human hair
- Short-term Efficacy of Tofacitinib, a JAK Inhibitor, in IFIH1-related Aicardi-Goutières Syndrome
- Trichothiodystrophy hair shafts display distinct ultrastructural features
- How the leopard gets its spots: a transmembrane peptidase specifies feline pigmentation patterns
- Riboflavin-responsive glutaryl CoA dehydrogenase deficiency
- Parallel Independent Losses of G-Type Lysozyme Genes in Hairless Aquatic Mammals
- The genetic evolution of skin squamous cell carcinoma: tumor suppressor identity matters
- [Genetic expression and morphogenesis of the skin in vertebrates].
- Successful plasmapheresis and immunoglobulin treatment for severe lipid storage myopathy: Doing the right thing for the wrong reason
- Autosomal Dominant Obstructive Sleep Apnea Syndrome Due to the New Variant c.980_984dup in COL1A2: A Case Report
- IMMUNOLOGICAL AND GENETIC ASPECTS OF HEREDITARY ANTIBODY DEFICIENCIES
- The role of Pygo2 during intestinal tumor initiation and progression in vivo
- Bridging Personal and Population in Excitability Diseases: Will Studies of Rare Diseases Bring Generalizable Mechanisms From Monogenic Channelopathies?
- 14-3-3σ Is Required for Club Hair Retention