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Research 61–90 of 1000+
- Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Barrier Dysfunction
- Genotype-Phenotype Delineation of Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dystrophy in a Pediatric Patient: A Case Report
- Hypomyelinating leukodystrophy-10 presenting with an additional atypical feature of increased body hair and Mongolian spots
- Recalcitrant Female Pattern Hair Loss Like Alopecia Unveils Unexpected Rare Entity
- https://researchopenworld.com/genetics-of-hidradenitis-suppurativa/#
- Evidence on Hidradenitis Suppurativa as an Autoinflammatory Skin Disease
- A case of <i>MBTPS1</i>‐related disorder due to compound heterozygous variants in <i>MBTPS1</i> gene: Genotype–phenotype expansion and the emergence of a novel syndrome
- Unusual Dermatologic Findings in an Extremely Low Birthweight Infant: The Genetic Diagnosis
- Alopecia with Vitamin D-Dependent Rickets Type 2 A: A Case Report
- Clinical analysis of 78 patients with non-classical 21-hydroxylase deficiency
- Clinical and Molecular Genetic Findings of Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
- Ugreelig hår
- Björnstad Syndrome With Late‐Onset Alopecia Mimicking Androgenetic Alopecia: Histopathological and Genetic Findings
- Role of <i>foxn1</i> in <i>Xenopus laevis</i> thymopoiesis.
- A distinct gene close to the hairless locus on chromosome 8p underlies hereditary Marie Unna type hypotrichosis in a German family
- Abstracts
- Acrodermatitis enteropathica – diagnostic challenges
- <i>GJB6</i> missense variant in a Labrador Retriever with paw pad hyperkeratosis
- Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis
- Atrichia with papular lesions resulting from a novel insertion mutation in the human hairless gene
- Autosomal Recessive Woolly Hair Caused by LIPH Mutations: A Case Series of Six Chinese Patients
- A missense mutation in the P2RY5 gene leading to autosomal recessive woolly hair in a Syrian patient
- CDH3 Mutation in Saudi Arabia: A Case of Hypotrichosis With Juvenile Macular Dystrophy
- Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy
- Tumor Mapping in 2 Large Multigenerational Families With CYLD Mutations
- Expanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous Mutations
- iRhom2 Mutation Leads to Aberrant Hair Follicle Differentiation in Mice
- A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients
- Detection of a Novel Missense Mutations in Atrichia with Papular Lesions
- Lentiginous melanoma. A clinically malignant entity that histopathologically seems benign. Case study harbouring BRAF V 600R mutation