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Expanding the phenotype: Four new cases and hope for treatment in Bachmann-Bupp syndrome.
VanSickle EA, Michael J, Bachmann AS, Rajasekaran S, Prokop JW, Kuzniecky R, Hofstede FC, Steindl K, Rauch A, Lipson MH, Bupp CP. VanSickle EA, et al. Among authors: kuzniecky r. Am J Med Genet A. 2021 Nov;185(11):3485-3493. doi: 10.1002/ajmg.a.62473. Epub 2021 Sep 3. Am J Med Genet A. 2021. PMID: 34477286 Free PMC article.
Lafora disease.
Madhavan D, Kuzniecky RI. Madhavan D, et al. Rev Neurol Dis. 2006 Summer;3(3):131-5. Rev Neurol Dis. 2006. PMID: 17047580
332 results