Search
for
Sort by
Research 151–180 of 1000+
- Genetically separable determinants of hair keratin gene expression
- 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
- 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
- Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin
- Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters
- A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis
- 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
- Autosomal Recessive Woolly Hair Caused by LIPH Mutations: A Case Series of Six Chinese Patients
- Novel splice site mutation in the <i>LIPH</i> gene in a patient with autosomal recessive woolly hair/hypotrichosis: Case report and published work review
- 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
- Atrichia with papular lesions resulting from a novel insertion mutation in the human hairless gene
- Detection of a Novel Missense Mutations in Atrichia with Papular Lesions
- Identification of the Rat Rex Mutation as a 7-bp Deletion at Splicing Acceptor Site of the Krt71 Gene
- Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia
- Two mouse mutations mapped to chromosome 11 with differing morphologies but similar progressive inflammatory alopecia
- Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements
- Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot
- Deficient Plakophilin-1 Expression Due to a Mutation in PKP1 Causes Ectodermal Dysplasia-Skin Fragility Syndrome in Chesapeake Bay Retriever Dogs
- Mice with Alopecia, Osteoporosis, and Systemic Amyloidosis Due to Mutation in Zdhhc13, a Gene Coding for Palmitoyl Acyltransferase
- Novel Vitamin D Receptor Mutations in Hereditary Vitamin D Resistant Rickets in Chinese
- The Chicken Frizzle Feather Is Due to an α-Keratin (KRT75) Mutation That Causes a Defective Rachis