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Research 361–390 of 1000+
- Genetic Susceptibility to Alopecia
- Mutation detection of type II hair cortex keratin gene KRT86 in a Chinese Han family with congenital monilethrix
- Analogs of human genetic skin disease in domesticated animals
- Novel Missense Mutation in the P-Box of Androgen Receptor in a Patient with Androgen Insensitivity Syndrome
- The Tabby (Ta), Tabby-c (Tac), and Tabby-J (TaJ) Mutations, Chromosome X
- Homozygous missense mutation in the<i>LIPH</i>gene causing autosomal recessive hypotrichosis simplex in a Chinese patient
- An infant with congenital micrognathia and upper airway obstruction was diagnosed as Hutchinson-Gilford progeria syndrome caused by a novel LMNA mutation: Case report and literature review
- Discreet monilethrix: De novo mutation on the example of polish families
- Granulomatous skin involvement in a patient with an unusual <i>NOD2</i> mutation
- A Case of Trichorhinophalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the <i>TRPS1</i> Gene
- Autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations: a case report
- Case report: Exploring autosomal recessive woolly hair: genetic and scanning electron microscopic perspectives on a Japanese patient
- Phenotypic heterogeneity in human genetic diseases: ultrasensitivity-mediated threshold effects as a unifying molecular mechanism
- Polygenic control of the wavy coat of the NCT mouse: involvement of an intracisternal A particle insertional mutation of the protease, serine 53 (Prss53) gene, and a modifier gene
- SAT-293 Novel Presentation Of A Heterozygous INSR Mutation And Markedly Elevated Testosterone Levels In A Pediatric Patient, A Case Report.
- Common genetic hair shaft abnormalities may be visualized by light and electron microscope
- Genetics of Alopecia
- Mutation analysis of type II hair keratin gene in a pedigree with monilethrix
- Genetic analysis of the role of androgen metabolism in the pathogenesis of prostate cancer
- Genetics of Diabetes in Childhood
- 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.
- Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets
- Cutaneous Ultrastructural Features of the Flaky Skin (<i>fsn</i>) Mouse Mutation
- Identification of Somatic <i>KRAS</i> Mutation in a Korean Baby with Nevus Sebaceus Syndrome
- Expanding the Senior-Løken syndrome spectrum: Combined Rothmund-Thomson features unveil the distinct Teelwani Syndrome phenotype
- Case of epidermolytic ichthyosis (bullous congenial ichthyosiform erythroderma) with a novel L157P mutation in KRT10 complicated by hypercalcemia
- The genetics of hair shaft disorders
- Hypohidrotic Ectodermal Dysplasia with c.28delG Mutation in Ectodysplasin A Gene and Severe Atopic Dermatitis Treated Successfully with Tofacitinib
- 129 Genetic transformation of keratoacanthoma-type cutaneous squamous cell carcinoma following intralesional chemotherapy
- Mutations in ABCB6 Cause Dyschromatosis Universalis Hereditaria