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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2004 1
2005 1
2008 1
2009 1
2010 5
2011 5
2012 7
2013 2
2014 2
2015 2
2016 3
2017 5
2018 2
2019 10
2020 1
2021 1
2024 0

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41 results

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Page 1
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
Snijders Blok L, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ, Steeves MA, Sahai I, Stumpel CTRM, Stegmann APA, Wheeler P, Willing M, Fiala E, Kochhar A, Gibson WT, Cohen ASA, Agbahovbe R, Innes AM, Au PYB, Rankin J, Anderson IJ, Skinner SA, Louie RJ, Warren HE, Afenjar A, Keren B, Nava C, Buratti J, Isapof A, Rodriguez D, Lewandowski R, Propst J, van Essen T, Choi M, Lee S, Chae JH, Price S, Schnur RE, Douglas G, Wentzensen IM, Zweier C, Reis A, Bialer MG, Moore C, Koopmans M, Brilstra EH, Monroe GR, van Gassen KLI, van Binsbergen E, Newbury-Ecob R, Bownass L, Bader I, Mayr JA, Wortmann SB, Jakielski KJ, Strand EA, Kloth K, Bierhals T; DDD study; Roberts JD, Petrovich RM, Machida S, Kurumizaka H, Lelieveld S, Pfundt R, Jansen S, Deriziotis P, Faivre L, Thevenon J, Assoum M, Shriberg L, Kleefstra T, Brunner HG, Wade PA, Fisher SE, Campeau PM. Snijders Blok L, et al. Nat Commun. 2018 Nov 5;9(1):4619. doi: 10.1038/s41467-018-06014-6. Nat Commun. 2018. PMID: 30397230 Free PMC article.
Motor and speech disorders in classic galactosemia.
Potter NL, Nievergelt Y, Shriberg LD. Potter NL, et al. JIMD Rep. 2013;11:31-41. doi: 10.1007/8904_2013_219. Epub 2013 Apr 2. JIMD Rep. 2013. PMID: 23546812 Free PMC article.
A frequent acoustic sign of speech motor delay (SMD).
Shriberg LD, Wren YE. Shriberg LD, et al. Clin Linguist Phon. 2019;33(8):757-771. doi: 10.1080/02699206.2019.1595734. Epub 2019 Apr 4. Clin Linguist Phon. 2019. PMID: 30945568 Free PMC article.
41 results