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Page 1
Biallelic variants in YRDC cause a developmental disorder with progeroid features.
Schmidt J, Goergens J, Pochechueva T, Kotter A, Schwenzer N, Sitte M, Werner G, Altmüller J, Thiele H, Nürnberg P, Isensee J, Li Y, Müller C, Leube B, Reinhardt HC, Hucho T, Salinas G, Helm M, Jachimowicz RD, Wieczorek D, Kohl T, Lehnart SE, Yigit G, Wollnik B. Schmidt J, et al. Among authors: leube b. Hum Genet. 2021 Dec;140(12):1679-1693. doi: 10.1007/s00439-021-02347-3. Epub 2021 Sep 20. Hum Genet. 2021. PMID: 34545459 Free PMC article.
Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients.
Rudnik-Schöneborn S, Tölle D, Senderek J, Eggermann K, Elbracht M, Kornak U, von der Hagen M, Kirschner J, Leube B, Müller-Felber W, Schara U, von Au K, Wieczorek D, Bußmann C, Zerres K. Rudnik-Schöneborn S, et al. Among authors: leube b. Clin Genet. 2016 Jan;89(1):34-43. doi: 10.1111/cge.12594. Epub 2015 Apr 29. Clin Genet. 2016. PMID: 25850958
Gene symbol: STK11. Disease: Peutz-Jeghers syndrome.
Schumacher V, Vogel T, Leube B, Driemel C, Goecke T, Moeslein G, Royer-Pokora B. Schumacher V, et al. Among authors: leube b. Hum Genet. 2005 May;116(6):533. Hum Genet. 2005. PMID: 15988825 No abstract available.
Gene symbol: STK11. Disease: Peutz-Jeghers syndrome.
Schumacher V, Vogel T, Leube B, Driemel C, Goecke T, Moeslein G, Royer-Polora B. Schumacher V, et al. Among authors: leube b. Hum Genet. 2005 May;116(6):536. Hum Genet. 2005. PMID: 15991309 No abstract available.
Gene symbol: STK11. Disease: Peutz-Jeghers syndrome.
Schumacher V, Vogel T, Leube B, Driemel C, Goecke T, Moeslein G, Royer-Pokora B. Schumacher V, et al. Among authors: leube b. Hum Genet. 2005 May;116(6):537. Hum Genet. 2005. PMID: 15991310 No abstract available.
Gene symbol: STK11. Disease: Peutz-Jeghers syndrome.
Schumacher V, Vogel T, Leube B, Driemel C, Goecke T, Moeslein G, Royer-Polora B. Schumacher V, et al. Among authors: leube b. Hum Genet. 2005 May;116(6):537. Hum Genet. 2005. PMID: 15991311 No abstract available.
Gene symbol: STK11. Disease: Peutz-Jeghers syndrome.
Schumacher V, Vogel T, Leube B, Driemel C, Goecke T, Moeslein G, Royer-Pokora B. Schumacher V, et al. Among authors: leube b. Hum Genet. 2005 May;116(6):540. Hum Genet. 2005. PMID: 15991319 No abstract available.
Gene symbol: STK11. Disease: Peutz-Jeghers syndrome.
Schumacher V, Vogel T, Leube B, Driemel C, Goecke T, Moeslein G, Royer-Pokora B. Schumacher V, et al. Among authors: leube b. Hum Genet. 2005 May;116(6):540. Hum Genet. 2005. PMID: 15991320 No abstract available.
Gene symbol: STK11. Disease: Peutz-Jeghers syndrome.
Schumacher V, Vogel T, Leube B, Driemel C, Goecke T, Moeslein G, Royer-Pokora B. Schumacher V, et al. Among authors: leube b. Hum Genet. 2005 May;116(6):540. Hum Genet. 2005. PMID: 15991321 No abstract available.
49 results