Search
for
Sort by
Research 181–210 of 1000+
- Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma
- Biotinidase deficiency characterized by skin and hair findings
- Semidominant Inheritance in Epidermolytic Ichthyosis
- Whole exome sequencing in Alopecia Areata identifies rare variants in KRT82
- STIM1 R304W in mice causes subgingival hair growth and an increased fraction of trabecular bone
- CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation
- Cell Polarization Defects in Early Heart Development
- Molecular, immunological, enzymatic and biochemical studies of coproporphyrinogen oxidase deficiency in a family with hereditary coproporphyria.
- 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
- A newborn presenting with congenital blistering
- Sebaceous carcinoma arising at a chronic candidiasis skin lesion of a patient with keratitis-ichthyosis-deafness (KID) syndrome
- Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) due to AIRET16M mutation in a consanguineous Greek girl
- Genetic Susceptibility to Alopecia
- Case report of Schöpf–Schulz–Passarge syndrome resulting from a missense mutation, p.Arg104Cys, in <i>WNT10A</i>
- Identification of a Novel MPL Loss of Function Mutation in a Patient with Cyclic Thrombocytopenia and Characterization of This Syndrome
- Delayed-onset pachyonychia congenita caused by a novel mutation in the V2 domain of keratin 6b
- Mutation detection of type II hair cortex keratin gene KRT86 in a Chinese Han family with congenital monilethrix
- Detection of a Novel Missense Mutations in Atrichia with Papular Lesions
- A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix
- A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype with Woolly Hair and Dental Anomalies
- Highly Conserved Keratin-Associated Protein 7-1 Gene in Yak, Taurine and Zebu Cattle
- Investigation of the association of the MLPH gene with seasonal canine flank alopecia in Rhodesian Ridgeback dogs
- Spatial Gene Profiling in the Ischemic Heart
- Analysis of R199H Polymorphism of Canine Melanophilin Gene (MLPH) in Population of Czech Pointer in Slovakia
- Jojoba (Simmondsia chinensis (Link) Schneider): An important Medicinal Plant- The Gold of the Desert
- Genetic Variation in CYP2B6, UGT1A4 and Sulfotransferases Is Associated with Disease-Free Survival in South African Breast Cancer Patients Treated with Tamoxifen
- Unravelling the threads of central centrifugal cicatricial alopecia
- Björnstad Syndrome With Late‐Onset Alopecia Mimicking Androgenetic Alopecia: Histopathological and Genetic Findings
- Genetic Variant of the Canine FGF5 Gene for the Hair Length Trait in the Akita: Utility for Hair Coat Variations and Welfare in Conservation Breeding