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Research 91–120 of 164
- Biotin and biotinidase deficiency
- Genetic Disorders and Defects in Vitamin D Action
- Cantú Syndrome Is Caused by Mutations in ABCC9
- Biotinidase Deficiency: Prevalence, Impact And Management Strategies.
- Orai1 expression pattern in tooth and craniofacial ectodermal tissues and potential functions during ameloblast differentiation
- Discordant phenotype in monozygotic twins with mosaic trisomy 12p in lymphocytes
- Giant axonal neuropathy alters the structure of keratin intermediate filaments in human hair
- Dramatic Clinical Improvement With Biotin Mega‐Dose Therapy in a Neonate With Holocarboxylase Synthetase Deficiency
- Paxbp1 is Indispensable for the Maintenance of Hair Follicle Homeostasis
- P-18 THREE BODY PROBLEM PATIENT: EHLER DANLOS SYNDROME COMBINED WITH HYPOPHOSPHATASIA AND FATTY ACID OXIDATION DEFECT
- P448: Identification of a novel RPS6KA3 variant in a female child with features of Coffin-Lowry syndrome: A case study
- 6874 A Rare Case Of Hereditary 1,25 (OH)2D Resistant Rickets
- SUN-332 A Rare Case Of Hereditary 1,25 (OH)2D Resistant Rickets
- P326: Cardiovascular features in adult individuals affected with Tatton-Brown-Rahman syndrome
- Metabolic disease with autoimmune phenomena: 2 cases of SLE-like disease in young children diagnosed with lysinuric protein intolerance
- This Month in the Journal
- WNT Signaling in Disease
- WNT10A mutation causes ectodermal dysplasia by impairing progenitor cell proliferation and KLF4-mediated differentiation
- Genetic Hair Disorders: A Review
- Mammalian-specific ectodermal enhancers control the expression of <i>Hoxc</i> genes in developing nails and hair follicles
- Skin Development and Disease: A Molecular Perspective
- BBS7–SHH Signaling Activity Regulates Primary Cilia for Periodontal Homeostasis
- Pili Torti: A Feature of Numerous Congenital and Acquired Conditions
- Overactive Wnt5a signaling disrupts hair follicle polarity during mouse skin development
- Ectodysplasin A (EDA) Signaling: From Skin Appendage to Multiple Diseases
- Cutaneous, Cranial, and Skeletal Defects in Children and Adults with Focal Dermal Hypoplasia
- The Roles of EDA2R in Ageing and Disease
- Current Genetics in Hair Diseases
- Ectodermal Dysplasia: Variable Expressions
- Coordinating the Sculptors: Ectodysplasin-A (EDA) Signaling Cross-Talk with Skeletogenic Pathways