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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.
Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment.
Morimoto M, Bhambhani V, Gazzaz N, Davids M, Sathiyaseelan P, Macnamara EF, Lange J, Lehman A, Zerfas PM, Murphy JL, Acosta MT, Wang C, Alderman E; Undiagnosed Diseases Network; Reichert S, Thurm A, Adams DR, Introne WJ, Gorski SM, Boerkoel CF, Gahl WA, Tifft CJ, Malicdan MCV.
Morimoto M, et al.
NPJ Genom Med. 2023 Feb 10;8(1):4. doi: 10.1038/s41525-022-00343-8.
NPJ Genom Med. 2023.
PMID: 36765070
Free PMC article.
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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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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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