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Research 31–60 of 1000+
- Delayed-onset pachyonychia congenita caused by a novel mutation in the V2 domain of keratin 6b
- Deep Hair Phenomics: Implications in Endocrinology, Development, and Aging
- Molecular–clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load
- New clinico‐genetic classification of trichothiodystrophy
- Serum-Free Expanded Hair Follicle Mesenchymal Stem Cells Promote Cartilage Repair in a Murine Full-Thickness Defect Model
- Effect of Hyaluronic Acid and Poly-L-Lactic Acid Dermal Fillers on Collagen Synthesis: An in vitro and in vivo Study
- Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases
- Clinical, Hormonal, Behavioral, and Genetic Characteristics of Androgen Insensitivity Syndrome in a Brazilian Cohort: Five Novel Mutations in the Androgen Receptor Gene
- Neonatal Ichthyosis and Sclerosing Cholangitis Syndrome
- A Short Report on Melanocyte/Melanoma Culture, Senescence, and Reproducibility
- The diagnosis of polycystic ovary syndrome: the criteria are insufficiently robust for clinical research
- Prenatal diagnosis of a fetus harboring an intermediate load of the A3243G mtDNA mutation in a maternal carrier diagnosed with MELAS syndrome
- Understanding host-graft crosstalk for predicting the outcome of stem cell transplantation
- CYP21A2 Genotypes do not Predict the Severity of Hyperandrogenic Manifestations in the Nonclassical Form of Congenital Adrenal Hyperplasia
- A Case of IFAP Syndrome with Severe Atopic Dermatitis
- Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot
- Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements
- Human hair keratins
- Characterization of novel TMEM173 mutation with additive IFIH1 risk allele
- Heterogeneity in the genetic alterations and in the clinical presentation of acrodermatitis enteropathic: Case report and review of the literature
- Twins with psychiatric features and a nonsense HRAS variant affecting transcript processing
- Autoimmune Polyglandular Syndrome Type 1 in Russian Patients: Clinical Variants and Autoimmune Regulator Mutations
- Cell Proteomic Footprinting: Advances in the Quality of Cellular and Cell-Derived Cancer Vaccines
- British Society for Paediatric Dermatology Annual Meeting, Sheffield, 18-19 November 2016
- Aromatase deficiency in a male patient - Case report and review of the literature.
- A Novel Mouse Type I Intermediate Filament Gene, Keratin 17n (K17n), Exhibits Preferred Expression in Nail Tissue
- Novel <i>KRT83</i> and <i>KRT86</i> mutations associated with monilethrix
- A Founder Mutation in the <i>POMC</i> 5′-UTR Causes Proopiomelanocortin Deficiency Through Splicing-Mediated Decrease of mRNA
- Pallister-Killian Syndrome
- A rare manifestation of STING-associated vasculopathy with onset in infancy: a case report