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Research 30 of 57
- Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR): clinical heterogeneity and long-term efficacious management of eight patients from four unrelated Arab families with a loss of function <i>VDR</i> mutation
- Hereditary vitamin D-resistant rickets (HVDRR) owing to a heterozygous mutation in the vitamin D receptor
- Hereditary vitamin D resistant rickets (HVDRR) case series: phenotype, genotype, conventional treatment, and adjunctive cinacalcet therapy
- The Nuclear Vitamin D Receptor: Biological and Molecular Regulatory Properties Revealed
- Genetic Disorders and Defects in Vitamin D Action
- The role of vitamin D receptor mutations in the development of alopecia
- Mutations in the vitamin D receptor and hereditary vitamin D-resistant rickets
- Hereditary 1,25‐Dihydroxyvitamin D–Resistant Rickets Due to an Opal Mutation Causing Premature Termination of the Vitamin D Receptor
- A Humanized Mouse Model of Hereditary 1,25-Dihydroxyvitamin D–Resistant Rickets Without Alopecia
- A Girl with a Novel Splice Site Mutation in <i>VDR</i> Supports the Role of a Ligand-Independent VDR Function on Hair Cycling
- Functional analyses of a novel missense and other mutations of the vitamin D receptor in association with alopecia
- A human vitamin D receptor mutation causes rickets and impaired Th1/Th17 responses
- Two siblings with a novel nonsense mutation, p.R50X, in the vitamin D receptor gene
- Clinical and genetic findings in a Chinese family with VDR-associated hereditary vitamin D-resistant rickets
- Hereditary vitamin D rickets: a case series in a family
- Hereditary Vitamin D Resistant Rickets: Clinical, Laboratory, and Genetic Characteristics of 2 Iranian Siblings
- Hereditary vitamin D-resistant rickets in Lebanese patients: the p.R391S and p.H397P variants have different phenotypes
- Commonly associated disorders with complete scalp alopecia in early childhood: A review
- A unique insertion/duplication in the VDR gene that truncates the VDR causing hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia
- Hereditary 1,25‐Dihydroxyvitamin D‐Resistant Rickets in a Pomeranian Dog Caused by a Novel Mutation in the Vitamin D Receptor Gene
- Experience of intravenous calcium treatment and long-term responses to treatment in a patient with hereditary vitamin D-resistant rickets resulting from a novel mutation
- Tooth Development Associated with Mutations in Hereditary Vitamin D–Resistant Rickets
- Hereditary 1,25-Dihydroxyvitamin D Resistant Rickets due to a Mutation Causing Multiple Defects in Vitamin D Receptor Function
- Clinical and Genetic Characterization of Tunisian Children with Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets
- Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia resulting from a novel missense mutation in the DNA-binding domain of the vitamin D receptor
- Two New Unrelated Cases of Hereditary 1,25-Dihydroxyvitamin D-resistant Rickets with Alopecia resulting from the same Novel Nonsense Mutation in the Vitamin D Receptor Gene
- Novel Vitamin D Receptor Mutations in Hereditary Vitamin D Resistant Rickets in Chinese
- Functional Analysis of VDR Gene Mutation R343H in A Child with Vitamin D-Resistant Rickets with Alopecia
- Rickets in association with skin diseases and conditions: A review with emphasis on screening and prevention
- Nonfebrile Seizures in Pediatrics: Key Points to Remember