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62 results

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Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Mutations in the pericentrin (PCNT) gene cause primordial dwarfism.
Rauch A, Thiel CT, Schindler D, Wick U, Crow YJ, Ekici AB, van Essen AJ, Goecke TO, Al-Gazali L, Chrzanowska KH, Zweier C, Brunner HG, Becker K, Curry CJ, Dallapiccola B, Devriendt K, Dörfler A, Kinning E, Megarbane A, Meinecke P, Semple RK, Spranger S, Toutain A, Trembath RC, Voss E, Wilson L, Hennekam R, de Zegher F, Dörr HG, Reis A. Rauch A, et al. Among authors: goecke to. Science. 2008 Feb 8;319(5864):816-9. doi: 10.1126/science.1151174. Epub 2008 Jan 3. Science. 2008. PMID: 18174396
New mutations in the ATM gene and clinical data of 25 AT patients.
Demuth I, Dutrannoy V, Marques W Jr, Neitzel H, Schindler D, Dimova PS, Chrzanowska KH, Bojinova V, Gregorek H, Graul-Neumann LM, von Moers A, Schulze I, Nicke M, Bora E, Cankaya T, Oláh É, Kiss C, Bessenyei B, Szakszon K, Gruber-Sedlmayr U, Kroisel PM, Sodia S, Goecke TO, Dörk T, Digweed M, Sperling K, de Sá J, Lourenco CM, Varon R. Demuth I, et al. Among authors: goecke to. Neurogenetics. 2011 Nov;12(4):273-82. doi: 10.1007/s10048-011-0299-0. Epub 2011 Oct 2. Neurogenetics. 2011. PMID: 21965147
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.
Wieczorek D, Bögershausen N, Beleggia F, Steiner-Haldenstätt S, Pohl E, Li Y, Milz E, Martin M, Thiele H, Altmüller J, Alanay Y, Kayserili H, Klein-Hitpass L, Böhringer S, Wollstein A, Albrecht B, Boduroglu K, Caliebe A, Chrzanowska K, Cogulu O, Cristofoli F, Czeschik JC, Devriendt K, Dotti MT, Elcioglu N, Gener B, Goecke TO, Krajewska-Walasek M, Guillén-Navarro E, Hayek J, Houge G, Kilic E, Simsek-Kiper PÖ, López-González V, Kuechler A, Lyonnet S, Mari F, Marozza A, Mathieu Dramard M, Mikat B, Morin G, Morice-Picard F, Ozkinay F, Rauch A, Renieri A, Tinschert S, Utine GE, Vilain C, Vivarelli R, Zweier C, Nürnberg P, Rahmann S, Vermeesch J, Lüdecke HJ, Zeschnigk M, Wollnik B. Wieczorek D, et al. Among authors: goecke to. Hum Mol Genet. 2013 Dec 20;22(25):5121-35. doi: 10.1093/hmg/ddt366. Epub 2013 Aug 1. Hum Mol Genet. 2013. PMID: 23906836 Free article.
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. 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-Pokora B. Schumacher V, et al. 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. 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. Hum Genet. 2005 May;116(6):541. Hum Genet. 2005. PMID: 15991322 No abstract available.
62 results