Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 7 (of 7 Records) |
Query Trace: Pachyonychia Congenita[original query] |
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Correction: Genetic variants in pachyonychia congenita-associated keratins increase susceptibility to tooth decay. PLoS genetics 2019 Jun 15 (6): e1008230. Duverger Olivier, Carlson Jenna C, Karacz Chelsea M, Schwartz Mary E, Cross Michael A, Marazita Mary L, Shaffer John R, Morasso Maria |
Revisiting pachyonychia congenita: a case-cohort study of 815 patients. The British journal of dermatology 2019 Dec . Samuelov L, Smith F J D, Hansen C D, Sprecher |
Molecular epidemiology of pachyonychia congenita in the Israeli population. Clinical and experimental dermatology 2020 Nov . Pavlovsky M, Peled A, Samuelov L, Malki L, Malovitski K, Assaf S, Mohamad J, Meijers O, Eskin-Schwartz M, Sarig O, Sprecher |
A KRT6A and a Novel KRT16 Gene Mutations in Chinese Patients with Pachyonychia Congenita. International journal of general medicine 2021 3 14 903-907. Gong Li, Guo Shuping, Wang Detong, Wang Ting, Ren Xiaoli, Yuan Yuting, Cui Hongzh |
Identification of clinically useful predictive genetic variants in pachyonychia congenita. Clinical and experimental dermatology 2021 1 46 (5): 867-873. Samuelov L, Sarig O, Adir N, Pavlovsky M, Smith F J, Schwartz J, Hansen C D, Sprecher |
Coexistence of pachyonychia congenita and hidradenitis suppurativa: more than a coincidence. The British journal of dermatology 2022 5 187 (3): 392-400. Pavlovsky Mor, Peled Alon, Sarig Ofer, Astman Nadav, Malki Liron, Meijers Odile, Assaf Sari, Schwartz Janice, Malovitski Kiril, Hansen David, Sprecher Eli, Samuelov Li |
Phenotype and genotype features of Vietnamese children with pachyonychia congenita. Pediatrics and neonatology 2023 1 . Chu Ha Thi, Dinh Duong Tung Anh, Le Doanh Huu, Le Thieu Van, Nguyen Binh Bui, Dang Chuc Van, Vu Quang V |
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