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18 results

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Page 1
Bizarre blistering and scarring in infancy.
Braun T, Vogel S, Tomova-Simitchieva T, Hampel M, Potratz C, Ghoreschi F, Wolter M, Ghoreschi K, Blume-Peytavi U, Vogt A. Braun T, et al. Among authors: potratz c. J Dtsch Dermatol Ges. 2022 Aug;20(8):1140-1142. doi: 10.1111/ddg.14798. Epub 2022 Jul 1. J Dtsch Dermatol Ges. 2022. PMID: 35775592 No abstract available.
Platform trial design for neurofibromatosis type 1, NF2-related schwannomatosis and non-NF2-related schwannomatosis: A potential model for rare diseases.
Dhaenens BAE, Heimann G, Bakker A, Nievo M, Ferner RE, Evans DG, Wolkenstein P, Leubner J, Potratz C, Carton C, Iloeje U, Kirk G, Blakeley JO, Plotkin S, Fisher MJ, Kim A, Driever PH, Azizi AA, Widemann BC, Gross A, Parke T, Legius E, Oostenbrink R. Dhaenens BAE, et al. Among authors: potratz c. Neurooncol Pract. 2024 Jan 4;11(4):395-403. doi: 10.1093/nop/npae001. eCollection 2024 Aug. Neurooncol Pract. 2024. PMID: 39006526 Free PMC article.
Lessons learned from drug trials in neurofibromatosis: A systematic review.
Dhaenens BAE, Ferner RE, Evans DG, Heimann G, Potratz C, van de Ketterij E, Kaindl AM, Hissink G, Carton C, Bakker A, Nievo M, Legius E, Oostenbrink R. Dhaenens BAE, et al. Among authors: potratz c. Eur J Med Genet. 2021 Sep;64(9):104281. doi: 10.1016/j.ejmg.2021.104281. Epub 2021 Jul 5. Eur J Med Genet. 2021. PMID: 34237445 Free article.
Identifying challenges in neurofibromatosis: a modified Delphi procedure.
Dhaenens BAE, Ferner RE, Bakker A, Nievo M, Evans DG, Wolkenstein P, Potratz C, Plotkin SR, Heimann G, Legius E, Oostenbrink R. Dhaenens BAE, et al. Among authors: potratz c. Eur J Hum Genet. 2021 Nov;29(11):1625-1633. doi: 10.1038/s41431-021-00892-z. Epub 2021 Apr 26. Eur J Hum Genet. 2021. PMID: 33903738 Free PMC article.
Biallelic truncating variants in ATP9A cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive.
Vogt G, Verheyen S, Schwartzmann S, Ehmke N, Potratz C, Schwerin-Nagel A, Plecko B, Holtgrewe M, Seelow D, Blatterer J, Speicher MR, Kornak U, Horn D, Mundlos S, Fischer-Zirnsak B, Boschann F. Vogt G, et al. Among authors: potratz c. J Med Genet. 2022 Jul;59(7):662-668. doi: 10.1136/jmedgenet-2021-107843. Epub 2021 Jun 18. J Med Genet. 2022. PMID: 34379057 Free PMC article.
18 results