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Research 121–150 of 1000+
- 17 beta-hydroxysteroid dehydrogenase 3 deficiency in the Mediterranean population.
- Recently Identified Forms of Epidermolysis Bullosa
- Lanceolate Hair (lah): A Recessive Mouse Mutation with Alopecia and Abnormal Hair
- Inherited Hairlessness: A Case Study of Familial Congenital Atrichia
- Disorders of Keratinization
- Recessive Mutation in FAM83G Associated with Palmoplantar Keratoderma and Exuberant Scalp Hair
- Ocular aspects in biotinidase deficiency Clinical and genetic original studies
- Asebia-2J (Scd1ab2J): A New Allele and a Model for Scarring Alopecia
- Nonclassic 21-hydroxylase deficiency
- Congenital atrichia with papular lesions
- An Update of Congenital Adrenal Hyperplasia
- An unusual presentation of vitamin D dependent rickets type 2 with low 25 (OH) D3 levels and alopecia: a case report of two siblings
- Scd1 ab-Xyk : a new asebia allele characterized by a CCC trinucleotide insertion in exon 5 of the stearoyl-CoA desaturase 1 gene in mouse
- Woodhouse-Sakati Syndrome: The New Genetic Variant of DCAF17 In 2 Adult Sisters
- Atrichia with papular lesions resulting from a novel homozygous missense mutation in the hairless gene
- A New CARASIL Family: Recurrent Lobar Hemorrhage as a Novel Characteristic of the Disease
- Case Report: Bi-allelic missense variant in the desmocollin 3 gene causes hypotrichosis and recurrent skin vesicles
- PLACK syndrome associated with alopecia areata and a novel homozygous base pair insertion in exon 18 of CAST gene
- Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene
- Björnstad Syndrome With Late‐Onset Alopecia Mimicking Androgenetic Alopecia: Histopathological and Genetic Findings
- Genetics and Pathophysiology of Congenital Adrenal Hyperplasia
- Congenital atrichia with papular lesions resulting from novel mutations in human hairless gene in four consanguineous families
- A novel mutation in the FERMT1 gene in a Spanish family with Kindler’s syndrome
- BG02: Muir‐Torre syndrome: a case of unusual coexisting genetic mutations
- Primary and Secondary Disturbances in Trace Element Metabolism Connected with Genetic Metabolic Disorders
- Emergence of hereditary hyperplastic gingivitis in Newfoundland and Labrador, Canada: an exploration into the molecular aetiology at both the gene and genome levels
- Netherton Syndrome Associated with Growth Hormone Deficiency
- Netherton Syndrome
- Atrichia with papular lesions
- GAPO syndrome – Report of a rare case and review