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Research 31–60 of 1000+
- A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix
- Autosomal recessive woolly hair/hypotrichosis with homozygous mutation in the <i>LIPH</i> gene: a case report
- A Case of Tricho-rhino-phalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
- Case of autosomal recessive woolly hair/hypotrichosis with compound heterozygous mutations in the <i>LIPH</i> gene at c.742C > A and c.614A > G: The first Japanese case
- 157 Analysis of the hybrid schwannoma and neurofibroma including a case report of schwannomatosis caused by a mutation in the LZTR1 gene
- A case report of a novel homozygote mutation causing severe Leydig cell hypoplasia: insights in the coexistence of nonsense mutation and polymorphism in the same LHCGR gene locus
- Functional Analysis of VDR Gene Mutation R343H in A Child with Vitamin D-Resistant Rickets with Alopecia
- A Mutation in the Serum and Glucocorticoid-Inducible Kinase-Like Kinase (Sgkl) Gene is Associated with Defective Hair Growth in Mice
- A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type
- Sequence of the intron/exon junctions of the coding region of the human androgen receptor gene and identification of a point mutation in a family with complete androgen insensitivity.
- Atrichia with papular lesions resulting from a novel homozygous missense mutation in the hairless gene
- Mutations in the vitamin D receptor gene in four patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets
- ABCD1 Gene Mutations: Mechanisms and Management of Adrenomyeloneuropathy
- Hidradenitis suppurativa and Mediterranean fever gene mutations
- A Novel Androgen Receptor Gene Mutation in a 46,XY Patient: Complete Androgen Insensitivity Syndrome
- Genetic screening of non-classic CAH females with hyperandrogenemia identifies a novel CYP11B1 gene mutation
- The mouse hairy ears mutation exhibits an extended growth (anagen) phase in hair follicles and altered <i>Hoxc</i> gene expression in the ears
- Mutation of the doublecortin gene in male patients with double cortex syndrome: Somatic mosaicism detected by hair root analysis
- Novel D323G mutation of <i>DSG4</i> gene in a girl with localized autosomal recessive hypotrichosis clinically overlapped with monilethrix
- Birt-Hogg-Dube Syndrome with a Novel Mutation in the <i>FLCN</i> Gene
- Mutation in 5′ upstream region of <i>GCH</i> I gene causes familial dopa-responsive dystonia
- Novel splicing‐site mutation in <i>DCAF17</i> gene causing Woodhouse‐Sakati syndrome in a large consanguineous family
- Mutation of the GDP-Fucose Biosynthesis Gene gmds Increases Hair Cell Number and Neuromast Regenerative Capacity in Zebrafish
- Novel small‐insertion mutation in the <i>LIPH</i> gene in a patient with autosomal recessive woolly hair/hypotrichosis
- BH02 Overcoming genetic drivers in alopecia areata: hair regrowth in a patient with the <i>AIRE</i> gene mutation treated with ruxolitinib
- Short anagen hair syndrome is caused by mutations in the <i>WNT10A</i> gene and has a genetic overlap with male pattern hair loss
- 301 Whole exome sequencing in AA patients identifies a hotspot mutation in the type II hair keratin gene, KRT82
- Mutation analysis of the typeIIhair keratin gene in a family of Han nationality with monilethrix
- Mutation analysis of type II hair keratin gene in a pedigree with monilethrix
- Identical p53 gene mutation in malignant proliferating trichilemmal tumour of the scalp and small cell carcinoma of the common bile duct: the necessity for therapeutic caution?