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Research 151–180 of 1000+
- THE EXPRESSION AND INTERACTION OF HEREDITARY FACTORS PRODUCING HYPOTRICHOSIS IN THE MOUSE: HISTOLOGY AND EXPERIMENTAL RESULTS
- Adam10 haploinsufficiency causes freckle-like macules in Hairless mice
- Genetic characterization of congenital defects in dogs : caudal dysplasia, ectodermal dysplasia and mucopolysaccharidosis VII
- Genotype-Phenotype Delineation of Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dystrophy in a Pediatric Patient: A Case Report
- A New CARASIL Family: Recurrent Lobar Hemorrhage as a Novel Characteristic of the Disease
- Autosomal recessive hereditary hypotrichosis simplex: A case report
- A Case Report and a Review of TRAPPC4‐Related TRAPPopathy
- 307 Phenotypic-genotypic expansion of plectinopathy in a patient with muscular dystrophy and immune-mediated myasthenia gravis
- Genetically separable determinants of hair keratin gene expression
- Table 1_Clinical features and genetic analysis of acrodermatitis enteropathica in an ethnic minority infant from Western China: a case report and literature review.xlsx
- Table 2_Clinical features and genetic analysis of acrodermatitis enteropathica in an ethnic minority infant from Western China: a case report and literature review.xlsx
- Alopecia with Vitamin D-Dependent Rickets Type 2 A: A Case Report
- A Case to Tear One's Hair Out: Trichotillomania in Wilson's Disease
- Successful management of Netherton syndrome using IVIG and dupilumab: A case report
- LB1007 Systemic treatment with a KLK5 inhibitor shows efficacy in a murine model of Netherton syndrome
- Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin
- A Newborn With Hair Loss
- Genetics of Inherited Ichthyoses and Related Diseases
- A variant of the glucocorticoid receptor gene is not associated with adrenal androgen excess in women with polycystic ovary syndrome
- A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis
- Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters
- The ITGB6 gene: its role in experimental and clinical biology
- Writer’s Cramp Presentation of Woodhouse–Sakati Syndrome – “Out of the Woods”
- Functional analyses of a novel missense and other mutations of the vitamin D receptor in association with alopecia
- WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes
- Prevalence of CYP21 mutations and IRS1 variant among women with polycystic ovary syndrome and adrenal androgen excess
- Autosomal Recessive Woolly Hair Caused by LIPH Mutations: A Case Series of Six Chinese Patients
- Analysis of the function of ADAM17 in iRhom2 curly-bare and tylosis with esophageal cancer mutant mice
- A Novel Point Mutation in the Ligand-Binding Domain (LBD) of the Human Glucocorticoid Receptor (hGR) Causing Generalized Glucocorticoid Resistance: The Importance of the C Terminus of hGR LBD in Conferring Transactivational Activity
- Mutant laboratory mice with abnormalities in hair follicle morphogenesis, cycling, and/or structure: An update