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Research 271–300 of 458
- A Case of Tricho-rhino-phalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
- A homozygous nonsense mutation identified in <i>COL7A1</i> in a family with autosomal recessive dystrophic epidermolysis bullosa
- A nonsense variant in <i>KRT31</i> is associated with autosomal-dominant monilethrix
- A novel nonsense CDH3 mutation in hypotrichosis with juvenile macular dystrophy
- Two siblings with a novel nonsense mutation, p.R50X, in the vitamin D receptor gene
- Twins with psychiatric features and a nonsense HRAS variant affecting transcript processing
- A Case of Trichorhinophalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the <i>TRPS1</i> Gene
- <i>C2orf37</i> mutational spectrum in Woodhouse–Sakati syndrome patients
- Molecular basis of hypotrichosis with juvenile macular dystrophy in two siblings
- Phenotypic variability associated with<i>WNT10A</i>nonsense mutations
- Compound Heterozygous Mutations in the Hairless Gene in Atrichia with Papular Lesions
- Association analysis of polymorphisms in six keratin genes with wool traits in sheep
- Congenital atrichia with papular lesions resulting from novel mutations in human hairless gene in four consanguineous families
- Kyoto Rhino Rats Derived by ENU Mutagenesis Undergo Congenital Hair Loss and Exhibit Focal Glomerulosclerosis
- Severe metabolic disorders coexisting with Werner syndrome: a case report
- A Mutation in the Serum and Glucocorticoid-Inducible Kinase-Like Kinase (Sgkl) Gene is Associated with Defective Hair Growth in Mice
- Atrichia with Papular Lesions in a Chinese Family Caused by Novel Compound Heterozygous Mutations and Literature Review
- 302 Availability of mRNA Obtained from Peripheral Blood Mononuclear Cells for Mutational Analysis in Dystrophic Epidermolysis Bullosa
- 301 Whole exome sequencing in AA patients identifies a hotspot mutation in the type II hair keratin gene, KRT82
- A null mutation in the cystatin M/E gene of ichq mice causes juvenile lethality and defects in epidermal cornification
- 301 The Spectrum of PLEC Sequence Variants and Related Plectinopathies Including Novel Association with Epidermolysis Bullosa Pruriginosa
- Genetics of Inherited Ichthyoses and Related Diseases
- Novel de novo pathogenic variant in the <i>ODC1</i> gene in a girl with developmental delay, alopecia, and dysmorphic features
- Novel <i>ABCD1</i> Gene Mutation in Adrenomyeloneuropathy with Hypoplasia and Agenesis of the Corpus Callosum
- Disease causing homozygous variants in the human hairless gene
- Writer’s Cramp Presentation of Woodhouse–Sakati Syndrome – “Out of the Woods”
- Prediction of gain-of-function and loss-of-function mutations using Combined Annotation Dependent Depletion (CADD)
- Identification and characterization of genes for skin and hair disorders
- Genetic Mapping Of Hereditary Ectodermal Dysplasias And Hair Loss Genes
- WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes