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Research 61–90 of 1000+
- Novel Vitamin D Receptor Mutations in Hereditary Vitamin D Resistant Rickets in Chinese
- Cantú syndrome with coexisting familial pituitary adenoma
- CDH3 Mutation in Saudi Arabia: A Case of Hypotrichosis With Juvenile Macular Dystrophy
- Clinical and Molecular Genetic Findings of Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
- Autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations: a case report
- Unravelling the threads of central centrifugal cicatricial alopecia
- The metabolic syndrome- associated small G protein ARL15 plays a role in adipocyte differentiation and adiponectin secretion
- Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles
- Autosomal-Dominant Woolly Hair Resulting from Disruption of Keratin 74 (KRT74), a Potential Determinant of Human Hair Texture
- Identifying 17-β-HSD3 Deficiency in Patients with Karyotype 46,XY Misdiagnosed with Androgen Insensitivity Syndrome: A Pediatric Case Report
- Recalcitrant Female Pattern Hair Loss Like Alopecia Unveils Unexpected Rare Entity
- Deficient anterior pituitary with common variable immune deficiency (DAVID syndrome): a new case and literature reports
- Bald thigh syndrome in sighthounds—Revisiting the cause of a well-known disease
- A novel homozygous variant in the dsp gene underlies the first case of non-syndromic form of alopecia
- Integrative analysis of rare copy number variants and gene expression data in alopecia areata implicates an aetiological role for autophagy
- De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes
- Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot
- <i>NUDT15</i>,<i>FTO</i>, and<i>RUNX1</i>genetic variants and thiopurine intolerance among Japanese patients with inflammatory bowel diseases
- Disease causing homozygous variants in the human hairless gene
- Alopecia areata susceptibility variant identified by MHC risk haplotype sequencing reproduces symptomatic patched hair loss in mice
- Variant <i>PADI3</i> in Central Centrifugal Cicatricial Alopecia
- Perturbations in fatty acid metabolism and collagen production infer pathogenicity of a novel MBTPS2 variant in Osteogenesis imperfecta
- Functional analyses of a novel missense and other mutations of the vitamin D receptor in association with alopecia
- Global Landscapes of Human Phenotypic Variation in Inherited Traits
- Female Pseudohermaphroditism Caused by a Novel Homozygous Missense Mutation of the GR Gene
- Signal transducer and activator of transcription 5B deficiency due to a novel missense mutation in the coiled-coil domain
- Expanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous Mutations
- WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes
- Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases
- NUDT15 polymorphism explains serious toxicity to azathioprine in Indian patients with chronic immune thrombocytopenia and autoimmune hemolytic anemia: a case series