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

Year Number of Results
2007 1
2009 1
2012 2
2013 1
2014 1
2015 3
2016 3
2017 8
2018 2
2019 2
2020 4
2021 2
2022 1
2023 3
2024 0

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Page 1
Kleefstra syndrome: Impact on parents.
Haseley A, Wallis K, DeBrosse S. Haseley A, et al. Among authors: debrosse s. Disabil Health J. 2021 Apr;14(2):101018. doi: 10.1016/j.dhjo.2020.101018. Epub 2020 Nov 5. Disabil Health J. 2021. PMID: 33189624
FHF1 (FGF12) epileptic encephalopathy.
Al-Mehmadi S, Splitt M; For DDD Study group*; Ramesh V, DeBrosse S, Dessoffy K, Xia F, Yang Y, Rosenfeld JA, Cossette P, Michaud JL, Hamdan FF, Campeau PM, Minassian BA; For CENet Study group‡. Al-Mehmadi S, et al. Among authors: debrosse s. Neurol Genet. 2016 Oct 28;2(6):e115. doi: 10.1212/NXG.0000000000000115. eCollection 2016 Dec. Neurol Genet. 2016. PMID: 27830185 Free PMC article.
Mutations in SCN3A cause early infantile epileptic encephalopathy.
Zaman T, Helbig I, Božović IB, DeBrosse SD, Bergqvist AC, Wallis K, Medne L, Maver A, Peterlin B, Helbig KL, Zhang X, Goldberg EM. Zaman T, et al. Among authors: debrosse sd. Ann Neurol. 2018 Apr;83(4):703-717. doi: 10.1002/ana.25188. Epub 2018 Mar 30. Ann Neurol. 2018. PMID: 29466837 Free PMC article.
Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency.
Bedoyan JK, Yang SP, Ferdinandusse S, Jack RM, Miron A, Grahame G, DeBrosse SD, Hoppel CL, Kerr DS, Wanders RJA. Bedoyan JK, et al. Among authors: debrosse sd. Mol Genet Metab. 2017 Apr;120(4):342-349. doi: 10.1016/j.ymgme.2017.02.002. Epub 2017 Feb 2. Mol Genet Metab. 2017. PMID: 28202214 Free PMC article. Review.
27 results