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Research 241–270 of 1000+
- Congenital adrenal hyperplasia
- Hyperadrenocorticism in Ferrets
- Clinical features and genetic analysis of acrodermatitis enteropathica in an ethnic minority infant from Western China: a case report and literature review
- Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis
- Retinol dehydrogenase 12 (RDH12): Role in vision, retinal disease and future perspectives
- ABCD1 Gene Mutations: Mechanisms and Management of Adrenomyeloneuropathy
- Altered hair root gene expression profiles highlight calcium signaling and lipid metabolism pathways to be associated with curly hair initiation and maintenance in Mangalitza pigs
- Two novel <i>BTD</i> mutations causing profound biotinidase deficiency in a Chinese patient
- Expanding the Cutaneous Spectrum of Nicolaides‑Baraitser Syndrome: Eczema and Generalized Hair Loss
- HSD3B1 Genotypes Conferring Adrenal-Restrictive and Adrenal-Permissive Phenotypes in Prostate Cancer and Beyond
- Highlights of Gene and Cell Therapy for Epidermolysis Bullosa and Ichthyosis
- Delayed Diagnosis of Congenital Adrenal Hyperplasia Due to 3β-Hydroxysteroid Dehydrogenase Type 2 Deficiency
- Treatment of hypotrichosis simplex of the scalp with the combination of botanic extracts and minoxidil: a case report
- Next-generation Sequencing Identified a Novel EDA Mutation in a Chinese Pedigree of Hypohidrotic Ectodermal Dysplasia with Hyperplasia of the Sebaceous Glands
- PCSK9: From Nature’s Loss to Patient’s Gain
- Myotonic Dystrophy—A Progeroid Disease?
- Dunnigan-Type Familial Partial Lipodystrophy: Understanding and Treating the Syndrome
- Hidradenitis Suppurativa as a Potential Subtype of Autoinflammatory Keratinization Disease
- Two Hypomorphic Alleles of Mouse Ass1 as a New Animal Model of Citrullinemia Type I and Other Hyperammonemic Syndromes
- Converging physiological roles of the anthrax toxin receptors
- An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature
- Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia in four Egyptian families: report of three novel mutations in the vitamin D receptor gene
- The retarded hair growth ( rhg ) mutation in mice is an allele of ornithine aminotransferase ( Oat )
- A TP63 Mutation Causes Prominent Alopecia with Mild Ectodermal Dysplasia
- Short-term Efficacy of Tofacitinib, a JAK Inhibitor, in IFIH1-related Aicardi-Goutières Syndrome
- Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review
- Collodion baby to bathing suit ichthyosis: A 6-year follow-up
- Hair Bundle Defects and Loss of Function in the Vestibular End Organs of Mice Lacking the Receptor-Like Inositol Lipid Phosphatase PTPRQ
- Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome
- Pleiotropic Role of Notch Signaling in Human Skin Diseases