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Year Number of Results
1987 2
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1989 1
1990 2
1991 1
1992 4
1993 8
1994 2
1995 1
1996 1
1997 4
1998 3
1999 3
2000 2
2001 4
2002 4
2003 6
2004 3
2005 4
2006 1
2007 3
2008 3
2009 1
2010 3
2011 1
2012 2
2013 3
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2015 3
2016 2
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2019 4
2020 2
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2024 0

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88 results

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Page 1
Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice.
Jønch AE, Douard E, Moreau C, Van Dijck A, Passeggeri M, Kooy F, Puechberty J, Campbell C, Sanlaville D, Lefroy H, Richetin S, Pain A, Geneviève D, Kini U, Le Caignec C, Lespinasse J, Skytte AB, Isidor B, Zweier C, Caberg JH, Delrue MA, Møller RS, Bojesen A, Hjalgrim H, Brasch-Andersen C, Lemyre E, Ousager LB, Jacquemont S; 15q11.2 Working Group. Jønch AE, et al. J Med Genet. 2019 Oct;56(10):701-710. doi: 10.1136/jmedgenet-2018-105879. Epub 2019 Aug 26. J Med Genet. 2019. PMID: 31451536 Free PMC article.
Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders.
Burglen L, Van Hoeymissen E, Qebibo L, Barth M, Belnap N, Boschann F, Depienne C, De Clercq K, Douglas AGL, Fitzgerald MP, Foulds N, Garel C, Helbig I, Held K, Horn D, Janssen A, Kaindl AM, Narayanan V, Prager C, Rupin-Mas M, Afenjar A, Zhao S, Ramaekers VT, Ruggiero SM, Thomas S, Valence S, Van Maldergem L, Rohacs T, Rodriguez D, Dyment D, Voets T, Vriens J. Burglen L, et al. Among authors: ramaekers vt. Elife. 2023 Jan 17;12:e81032. doi: 10.7554/eLife.81032. Elife. 2023. PMID: 36648066 Free PMC article.
Clinical utility gene card for: Biotinidase deficiency-update 2015.
Küry S, Ramaekers V, Bézieau S, Wolf B. Küry S, et al. Among authors: ramaekers v. Eur J Hum Genet. 2016 Jul;24(7). doi: 10.1038/ejhg.2015.246. Epub 2015 Nov 18. Eur J Hum Genet. 2016. PMID: 26577040 Free PMC article. Review. No abstract available.
Cerebral folate deficiency.
Ramaekers VT, Blau N. Ramaekers VT, et al. Dev Med Child Neurol. 2004 Dec;46(12):843-51. doi: 10.1017/s0012162204001471. Dev Med Child Neurol. 2004. PMID: 15581159 Free article.
88 results