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Page 1
A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay.
Mucha BE, Banka S, Ajeawung NF, Molidperee S, Chen GG, Koenig MK, Adejumo RB, Till M, Harbord M, Perrier R, Lemyre E, Boucher RM, Skotko BG, Waxler JL, Thomas MA, Hodge JC, Gecz J, Nicholl J, McGregor L, Linden T, Sisodiya SM, Sanlaville D, Cheung SW, Ernst C, Campeau PM. Mucha BE, et al. Among authors: adejumo rb. Genet Med. 2019 May;21(5):1058-1064. doi: 10.1038/s41436-018-0290-3. Epub 2018 Sep 24. Genet Med. 2019. PMID: 30245510 Free article.
Correction: A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay.
Mucha BE, Banka S, Ajeawung NF, Molidperee S, Chen GG, Koenig MK, Adejumo RB, Till M, Harbord M, Perrier R, Lemyre E, Boucher RM, Skotko BG, Waxler JL, Thomas MA, Hodge JC, Gecz J, Nicholl J, McGregor L, Linden T, Sisodiya SM, Sanlaville D, Cheung SW, Ernst C, Campeau PM. Mucha BE, et al. Among authors: adejumo rb. Genet Med. 2019 Sep;21(9):2159-2160. doi: 10.1038/s41436-018-0413-x. Genet Med. 2019. PMID: 30643220 Free article.
Sleep disordered breathing in children with mitochondrial disease.
Mosquera RA, Koenig MK, Adejumo RB, Chevallier J, Hashmi SS, Mitchell SE, Pacheco SE, Jon C. Mosquera RA, et al. Among authors: adejumo rb. Pulm Med. 2014;2014:467576. doi: 10.1155/2014/467576. Epub 2014 Dec 23. Pulm Med. 2014. PMID: 25587443 Free PMC article.