Human Genome Epidemiology Literature Finder
Records 1 - 6 (of 6 Records) |
Query Trace: NIPAL4[original query] |
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Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis. Human mutation 2018 7 39 (10): 1305-1313. Hotz Alrun, Bourrat Emmanuelle, Küsel Julia, Oji Vinzenz, Alter Svenja, Hake Lisanne, Korbi Mouna, Ott Hagen, Hausser Ingrid, Zimmer Andreas D, Fischer Judi |
Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4. Human mutation 2019 7 40 (12): 2318-2333. Ballin Nadja, Hotz Alrun, Bourrat Emmanuelle, Küsel Julia, Oji Vinzenz, Bouadjar Bakar, Brognoli Davide, Hickman Geoffroy, Heinz Lisa, Vabres Pierre, Marrakchi Slaheddine, Leclerc-Mercier Stéphanie, Irvine Alan, Tadini Gianluca, Hamm Henning, Has Cristina, Blume-Peytavi Ulrike, Mitter Diana, Reitenbach Marina, Hausser Ingrid, Zimmer Andreas D, Alter Svenja, Fischer Judi |
Congenital ichthyosiform erythroderma with a novel variant in ABCA12 in a Chinese patient. Pediatric investigation 2020 8 4 (1): 51-54. Yang Zhou, Qi Zhan, Xu Zhe, Li Wei, Ma L |
Genotype of autosomal recessive congenital ichthyosis from a tertiary care center in India. Pediatric dermatology 2022 4 39 (3): 420-424. Chiramel Minu Jose, Mathew Lydia, Athirayath Rekha, Chapla Aaron, Sathishkumar Dharshini, Mani Thenmozhi, Danda Sumita, George Re |
Clinical and molecular characteristics of autosomal recessive congenital ichthyosis in Thailand. Pediatric dermatology 2022 Oct . Supsrisunjai Chavalit, Bunnag Thareena, Chaowalit Prapaipit, Boonpuen Niorn, Kootiratrakarn Tanawatt, Wessagowit Vesar |
Cross-sectional study on autosomal recessive congenital ichthyoses: association of genotype with disease severity, phenotypic and ultrastructural features in 74 Italian patients. Dermatology (Basel, Switzerland) 2024 4 . Andrea Diociaiuti, Marialuisa Corbeddu, Sabrina Rossi, Elisa Pisaneschi, Claudia Cesario, Angelo Giuseppe Condorelli, Tonia Samela, Simona Giancristoforo, Adriano Angioni, Giovanna Zambruno, Antonio Novelli, Rita Alaggio, Damiano Abeni, May El Hach |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 22, 2024
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