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Year Number of Results
1980 1
1983 9
1984 1
1985 5
1986 1
1987 3
1988 5
1989 4
1990 4
1991 5
1992 5
1993 2
1994 1
1996 2
1997 6
1998 6
1999 9
2000 5
2001 8
2002 4
2003 3
2004 9
2005 12
2006 8
2007 14
2008 9
2009 3
2010 11
2011 8
2012 7
2013 9
2014 3
2015 6
2016 3
2017 5
2018 8
2019 4
2021 3
2024 1

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198 results

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Page 1
ANKRD11 variants: KBG syndrome and beyond.
Parenti I, Mallozzi MB, Hüning I, Gervasini C, Kuechler A, Agolini E, Albrecht B, Baquero-Montoya C, Bohring A, Bramswig NC, Busche A, Dalski A, Guo Y, Hanker B, Hellenbroich Y, Horn D, Innes AM, Leoni C, Li YR, Lynch SA, Mariani M, Medne L, Mikat B, Milani D, Onesimo R, Ortiz-Gonzalez X, Prott EC, Reutter H, Rossier E, Selicorni A, Wieacker P, Wilkens A, Wieczorek D, Zackai EH, Zampino G, Zirn B, Hakonarson H, Deardorff MA, Gillessen-Kaesbach G, Kaiser FJ. Parenti I, et al. Among authors: wieacker p. Clin Genet. 2021 Aug;100(2):187-200. doi: 10.1111/cge.13977. Epub 2021 May 14. Clin Genet. 2021. PMID: 33955014 Free article.
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.
Hu H, Haas SA, Chelly J, Van Esch H, Raynaud M, de Brouwer AP, Weinert S, Froyen G, Frints SG, Laumonnier F, Zemojtel T, Love MI, Richard H, Emde AK, Bienek M, Jensen C, Hambrock M, Fischer U, Langnick C, Feldkamp M, Wissink-Lindhout W, Lebrun N, Castelnau L, Rucci J, Montjean R, Dorseuil O, Billuart P, Stuhlmann T, Shaw M, Corbett MA, Gardner A, Willis-Owen S, Tan C, Friend KL, Belet S, van Roozendaal KE, Jimenez-Pocquet M, Moizard MP, Ronce N, Sun R, O'Keeffe S, Chenna R, van Bömmel A, Göke J, Hackett A, Field M, Christie L, Boyle J, Haan E, Nelson J, Turner G, Baynam G, Gillessen-Kaesbach G, Müller U, Steinberger D, Budny B, Badura-Stronka M, Latos-Bieleńska A, Ousager LB, Wieacker P, Rodríguez Criado G, Bondeson ML, Annerén G, Dufke A, Cohen M, Van Maldergem L, Vincent-Delorme C, Echenne B, Simon-Bouy B, Kleefstra T, Willemsen M, Fryns JP, Devriendt K, Ullmann R, Vingron M, Wrogemann K, Wienker TF, Tzschach A, van Bokhoven H, Gecz J, Jentsch TJ, Chen W, Ropers HH, Kalscheuer VM. Hu H, et al. Among authors: wieacker p. Mol Psychiatry. 2016 Jan;21(1):133-48. doi: 10.1038/mp.2014.193. Epub 2015 Feb 3. Mol Psychiatry. 2016. PMID: 25644381 Free PMC article.
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
Rauch A, Wieczorek D, Graf E, Wieland T, Endele S, Schwarzmayr T, Albrecht B, Bartholdi D, Beygo J, Di Donato N, Dufke A, Cremer K, Hempel M, Horn D, Hoyer J, Joset P, Röpke A, Moog U, Riess A, Thiel CT, Tzschach A, Wiesener A, Wohlleber E, Zweier C, Ekici AB, Zink AM, Rump A, Meisinger C, Grallert H, Sticht H, Schenck A, Engels H, Rappold G, Schröck E, Wieacker P, Riess O, Meitinger T, Reis A, Strom TM. Rauch A, et al. Among authors: wieacker p. Lancet. 2012 Nov 10;380(9854):1674-82. doi: 10.1016/S0140-6736(12)61480-9. Epub 2012 Sep 27. Lancet. 2012. PMID: 23020937
Hirsutism, its pathogenesis.
Breckwoldt M, Zahradnik HP, Wieacker P. Breckwoldt M, et al. Among authors: wieacker p. Hum Reprod. 1989 Aug;4(6):601-4. doi: 10.1093/oxfordjournals.humrep.a136950. Hum Reprod. 1989. PMID: 2674189 Review.
Advances in the Molecular Pathophysiology, Genetics, and Treatment of Primary Ovarian Insufficiency.
Huhtaniemi I, Hovatta O, La Marca A, Livera G, Monniaux D, Persani L, Heddar A, Jarzabek K, Laisk-Podar T, Salumets A, Tapanainen JS, Veitia RA, Visser JA, Wieacker P, Wolczynski S, Misrahi M. Huhtaniemi I, et al. Among authors: wieacker p. Trends Endocrinol Metab. 2018 Jun;29(6):400-419. doi: 10.1016/j.tem.2018.03.010. Epub 2018 Apr 26. Trends Endocrinol Metab. 2018. PMID: 29706485 Free article. Review.
The prenatal diagnosis of genetic diseases.
Wieacker P, Steinhard J. Wieacker P, et al. Dtsch Arztebl Int. 2010 Dec;107(48):857-62. doi: 10.3238/arztebl.2010.0857. Epub 2010 Dec 3. Dtsch Arztebl Int. 2010. PMID: 21173933 Free PMC article. Review.
Oral contraception in disease states.
Breckwoldt M, Wieacker P, Geisthövel F. Breckwoldt M, et al. Among authors: wieacker p. Am J Obstet Gynecol. 1990 Dec;163(6 Pt 2):2213-6. doi: 10.1016/0002-9378(90)90564-n. Am J Obstet Gynecol. 1990. PMID: 2256529 Review.
198 results