Search
for
Sort by
Research 331–360 of 1000+
- Histopathological and Ultrastructural Study of Ectodermal Dysplasia/Skin Fragility Syndrome
- Mutations in the helix termination motif of mouse type I IRS keratin genes impair the assembly of keratin intermediate filament
- The mutational analysis of mitochondrial DNA in maternal inheritance of polycystic ovarian syndrome
- Mice with a null mutation of the TGFα gene have abnormal skin architecture, wavy hair, and curly whiskers and often develop corneal inflammation
- K <sub>ATP</sub> Channels and Cardiovascular Disease
- Targeted transgenic expression of the mutation causing Hutchinson-Gilford progeria syndrome leads to proliferative and degenerative epidermal disease
- Atrichia with papular lesions in two Pakistani consanguineous families resulting from mutations in the human hairless gene
- Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in <i>TRPV3</i> Gene
- Molecular Analysis of the ABCA4 Gene Mutations in Patients with Stargardt Disease Using Human Hair Follicles
- Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families
- Identification of a novel homozygous LAMB3 mutation in a Chinese male with junctional epidermolysis bullosa and severe urethra stenosis: A case report
- Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2
- Characterization of X-Linked SNP genotypic variation in globally distributed human populations
- Rabson-Mendenhall syndrome: two case reports and a brief review of the literature
- Development of Woolly Hair and Hairlessness in a CRISPR−Engineered Mutant Mouse Model with KRT71 Mutations
- Morphologic and molecular characterization of two novel Krt71 (Krt2-6g) mutations: Krt71 rco12 and Krt71 rco13
- Riboflavin-responsive glutaryl CoA dehydrogenase deficiency
- Hereditary 1,25‐Dihydroxyvitamin D‐Resistant Rickets in a Pomeranian Dog Caused by a Novel Mutation in the Vitamin D Receptor Gene
- Biotinidase deficiency characterized by skin and hair findings
- Frontotemporal dementia with parkinsonism presenting as posterior cortical atrophy
- The PER3 rs772027021 SNP induces pigmentation phenotypes of dyschromatosis universalis hereditaria
- <i>DSG4</i> Gene Variants as a Cause of Hypotrichosis in the Child with Severe Atopic Dermatitis: Clinical Case
- Beyond Expectations
- Clinical-exome sequencing unveils the genetic landscape of polycystic ovarian syndrome (PCOS) focusing on lean and obese phenotypes: implications for cost-effective diagnosis and personalized treatment
- Successful Management of Netherton Syndrome Using IVIG and Dupilumab: A Case Report
- Clinical and Molecular Diagnostic Criteria of Congenital Atrichia with Papular Lesions11This paper originally appeared in issue 117:1662–1665, 2001. Following publication the authors indicated that important corrections at page proof were not taken in. To ensure that the paper is published as intended, the editors have decided to reproduce the contents in full.
- Autoimmune polyendocrine syndrome type 1: an Italian survey on 158 patients
- Severe metabolic disorders coexisting with Werner syndrome: a case report
- Netherton Syndrome: A Case-Based Review of Diagnosis, Management, and Emerging Treatments.
- Muir-torre syndrome in two families in Leicestershire, United Kingdom