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Research 121–150 of 1000+
- A Novel Androgen Receptor Gene Mutation in a 46,XY Patient: Complete Androgen Insensitivity Syndrome
- Postzygotic KRAS G12C mutation, associated with various malignancies, is also underling epidermal nevus syndrome
- Atrichia Caused by Mutations in the Vitamin D Receptor Gene is a Phenocopy of Generalized Atrichia Caused by Mutations in the Hairless Gene
- Influence of TRPV3 mutation on hair growth cycle in mice
- Two New Unrelated Cases of Hereditary 1,25-Dihydroxyvitamin D-resistant Rickets with Alopecia resulting from the same Novel Nonsense Mutation in the Vitamin D Receptor Gene
- A novel mutation in the connexin 26 gene (<i>GJB2</i>) in a child with clinical and histological features of keratitis–ichthyosis–deafness (KID) syndrome
- Cutaneous Ultrastructural Features of the Flaky Skin (<i>fsn</i>) Mouse Mutation
- <i>De novo</i> mutation in the mitochondrial tRNA<sup>Leu(UUR)</sup> gene (A3243G) with rapid segregation resulting in MELAS in the offspring
- Novel Vitamin D Receptor Mutations in Hereditary Vitamin D Resistant Rickets in Chinese
- Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis
- Lanceolate Hair (lah): A Recessive Mouse Mutation with Alopecia and Abnormal Hair
- A new compound heterozygous frameshift mutation in the type II 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) gene causes salt-wasting 3 beta-HSD deficiency congenital adrenal hyperplasia.
- Harlequin ichthyosis (ichq): a juvenile lethal mouse mutation with ichthyosiform dermatitis.
- Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia in four Egyptian families: report of three novel mutations in the vitamin D receptor gene
- Case report: Novel p.Val306Met missense mutation in TRPV3 in a case of Olmsted syndrome accompanied by squamous cell carcinoma
- Alymphoid cystic thymic dysgenesis - FOXN1 gene mutation: a rare case report of two siblings
- BG02: Muir‐Torre syndrome: a case of unusual coexisting genetic mutations
- Female Pseudohermaphroditism Caused by a Novel Homozygous Missense Mutation of the GR Gene
- Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in <i>TRPV3</i> Gene
- Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) due to AIRET16M mutation in a consanguineous Greek girl
- Identification of a Novel MPL Loss of Function Mutation in a Patient with Cyclic Thrombocytopenia and Characterization of This Syndrome
- An Autosomal Recessive Woolly Hair/Hypotrichosis Case with LIPH Mutation in a Turkish Patient
- Localized variant of junctional epidermolysis bullosa with R795X mutation
- Autosomal recessive pure hair and nail ectodermal dysplasia linked to chromosome 12p11.1-q14.3 without KRTHB5 gene mutation
- Expression, characterization, and structural analysis of human liver delta4-3-ketosteroid 5beta-reductase (AKR1D1) and its disease-related mutant P133R
- Dermatopathia pigmentosa reticularis: A rare case with adermatoglyphia
- Syndrome of Birt–Hogg–Dubé, a Histopathological Pitfall With Similarities to Tuberous Sclerosis
- 688 Precise and efficient editing of the COL7A1 gene in RDEB derived iPSCs with CRISPR/Cas9 and prime editing
- Disease causing homozygous variants in the human hairless gene
- APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex