Found: 16
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A novel mutation in a case of pachyonychia congenita from India.
- Published in:
- 2017
- By:
- Publication type:
- case study
PCQoL: A Quality of Life Assessment Measure for Pachyonychia Congenita.
- Published in:
- Journal of Cutaneous Medicine & Surgery, 2015, v. 19, n. 1, p. 57, doi. 10.2310/7750.2014.14017
- By:
- Publication type:
- Article
First-in-human Mutation-targeted siRNA Phase Ib Trial of an Inherited Skin Disorder.
- Published in:
- Molecular Therapy, 2010, v. 18, n. 2, p. 442, doi. 10.1038/mt.2009.273
- By:
- Publication type:
- Article
Correction: Genetic variants in pachyonychia congenita-associated keratins increase susceptibility to tooth decay.
- Published in:
- PLoS Genetics, 2019, v. 15, n. 6, p. 1, doi. 10.1371/journal.pgen.1008230
- By:
- Publication type:
- Article
Keratin 17 Mutations in Four Families from India with Pachyonychia Congenita.
- Published in:
- Indian Journal of Dermatology, 2017, v. 62, n. 4, p. 422, doi. 10.4103/ijd.IJD_321_16
- By:
- Publication type:
- Article
Pachyonychia Congenita: New Classification and Diagnosis.
- Published in:
- 2016
- By:
- Publication type:
- Letter to the Editor
Expanding the Phenotypic Spectrum of Olmsted Syndrome.
- Published in:
- Journal of Investigative Dermatology, 2015, v. 135, n. 11, p. 2879, doi. 10.1038/jid.2015.217
- By:
- Publication type:
- Article
Report of the 10th Annual International Pachyonychia Congenita Consortium Meeting.
- Published in:
- Journal of Investigative Dermatology, 2014, v. 134, n. 3, p. 588, doi. 10.1038/jid.2013.392
- By:
- Publication type:
- Article
Response to the Commentary 'Significance of Patient Registries for Dermatological Disorder'.
- Published in:
- Journal of Investigative Dermatology, 2013, v. 133, n. 5, p. 1361, doi. 10.1038/jid.2012.469
- By:
- Publication type:
- Article
Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita.
- Published in:
- Journal of Investigative Dermatology, 2012, v. 132, n. 7, p. 1921, doi. 10.1038/jid.2011.484
- By:
- Publication type:
- Article
A Large Mutational Study in Pachyonychia Congenita.
- Published in:
- Journal of Investigative Dermatology, 2011, v. 131, n. 5, p. 1018, doi. 10.1038/jid.2011.20
- By:
- Publication type:
- Article
Toward a Treatment for Pachyonychia Congenita: Report on the 7th Annual International Pachyonychia Congenita Consortium Meeting.
- Published in:
- 2011
- By:
- Publication type:
- Proceeding
Genotype-Phenotype Correlations among Pachyonychia Congenita Patients with K16 Mutations.
- Published in:
- Journal of Investigative Dermatology, 2011, v. 131, n. 5, p. 1025, doi. 10.1038/jid.2010.373
- By:
- Publication type:
- Article
Achieving Successful Delivery of Nucleic Acids to Skin: 6th Annual Meeting of the International Pachyonychia Congenita Consortium.
- Published in:
- 2009
- By:
- Publication type:
- Proceeding
Disease classification using clinical and molecular features.
- Published in:
- Journal of Dermatology, 2014, v. 41, n. 10, p. 949, doi. 10.1111/1346-8138.12587
- By:
- Publication type:
- Article
Genetic variants in pachyonychia congenita-associated keratins increase susceptibility to tooth decay.
- Published in:
- PLoS Genetics, 2018, v. 14, n. 1, p. 1, doi. 10.1371/journal.pgen.1007168
- By:
- Publication type:
- Article