Search
for
Sort by
Research 871–900 of 1000+
- Unexpectedly high carrier rates and genotype/phenotype correlation; LIPH mutations in Japanese autosomal recessive woolly hair/hypotrichosis
- Hereditary vitamin D resistant rickets (HVDRR) case series: phenotype, genotype, conventional treatment, and adjunctive cinacalcet therapy
- Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation
- A case of <i>MBTPS1</i>‐related disorder due to compound heterozygous variants in <i>MBTPS1</i> gene: Genotype–phenotype expansion and the emergence of a novel syndrome
- New clinico‐genetic classification of trichothiodystrophy
- Disorders of Keratinization
- Recently Identified Forms of Epidermolysis Bullosa
- Molecular–clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load
- Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA)
- Autosomal recessive monilethrix: Novel variants of the <i>DSG4</i> gene in three Chinese families
- Next-generation Sequencing Identified a Novel EDA Mutation in a Chinese Pedigree of Hypohidrotic Ectodermal Dysplasia with Hyperplasia of the Sebaceous Glands
- Advances in the genetic understanding of hypohidrotic ectodermal dysplasia
- Recalcitrant Female Pattern Hair Loss Like Alopecia Unveils Unexpected Rare Entity
- Uncombable hair syndrome and beyond
- A study of phenotypic correlation with the genotypic status of HTM regions of KRTHB6 and KRTHB1 genes in monilethrix families of Indian origin
- Reply
- CYP21A2 Genotypes do not Predict the Severity of Hyperandrogenic Manifestations in the Nonclassical Form of Congenital Adrenal Hyperplasia
- The Glucocorticoid Resistance Syndrome. Two Cases of a Novel Pathogenic Variant in the Glucocorticoid Receptor Gene
- Molecular genetics of androgen insensitivity
- Four Independent Mutations in the Feline Fibroblast Growth Factor 5 Gene Determine the Long-Haired Phenotype in Domestic Cats
- Site of beige (<i>bg</i>) and leaden (<i>ln</i>) pigment gene expression determined by recombinant embryonic skin grafts and aggregation mouse chimaeras employing sash (<i>W</i><sup><i>sh</i></sup>) homozygotes
- A Variable Monilethrix Phenotype Associated With a Novel Mutation, Glu402Lys, in the Helix Termination Motif of the Type II Hair Keratin hHb1
- The Noggin null mouse phenotype is strain dependent and haploinsufficiency leads to skeletal defects
- Novel Mutation in Sjögren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes
- Case Report: A case of Rothmund–Thomson syndrome-like phenotype with an ANAPC1 variant of uncertain significance and observed hair improvement
- Four hypotrichosis families with mutations in the gene <i>LSS</i> presenting with and without neurodevelopmental phenotypes
- W locus alleles of the KIT Gene in Turkish Van Cats and Their Association with Certain Phenotypes
- The pressing need for standardization in epidemiologic studies of PCOS across the globe
- Evaluation of DNA Variants Associated with Androgenetic Alopecia and Their Potential to Predict Male Pattern Baldness
- Recurrent E413K Mutation of hHb6 in a Japanese Family with Monilethrix