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Page 1
Defining the phenotypic spectrum of SLC6A1 mutations.
Epilepsia. 2018 Feb;59(2):389-402. doi: 10.1111/epi.13986. Epub 2018 Jan 8.
Epilepsia. 2018.
PMID: 29315614
Free PMC article.
Biallelic TOR1A variants in an infant with severe arthrogryposis.
Reichert SC, Gonzalez-Alegre P, Scharer GH.
Reichert SC, et al.
Neurol Genet. 2017 May 9;3(3):e154. doi: 10.1212/NXG.0000000000000154. eCollection 2017 Jun.
Neurol Genet. 2017.
PMID: 28516161
Free PMC article.
No abstract available.
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HNRNPH1-related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome.
Reichert SC, Li R, A Turner S, van Jaarsveld RH, Massink MPG, van den Boogaard MH, Del Toro M, Rodríguez-Palmero A, Fourcade S, Schlüter A, Planas-Serra L, Pujol A, Iascone M, Maitz S, Loong L, Stewart H, De Franco E, Ellard S, Frank J, Lewandowski R.
Reichert SC, et al.
Clin Genet. 2020 Jul;98(1):91-98. doi: 10.1111/cge.13765. Epub 2020 May 15.
Clin Genet. 2020.
PMID: 32335897
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Diagnosis of 9q22.3 microdeletion syndrome in utero following identification of craniosynostosis, overgrowth, and skeletal anomalies.
Reichert SC, Zelley K, Nichols KE, Eberhard M, Zackai EH, Martinez-Poyer J.
Reichert SC, et al.
Am J Med Genet A. 2015 Apr;167A(4):862-5. doi: 10.1002/ajmg.a.37013. Epub 2015 Feb 23.
Am J Med Genet A. 2015.
PMID: 25706929
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