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The epileptology of GNB5 encephalopathy.
Poke G, King C, Muir A, de Valles-Ibáñez G, Germano M, Moura de Souza CF, Fung J, Chung B, Fung CW, Mignot C, Ilea A, Keren B, Vermersch AI, Davis S, Stanley T, Moharir M, Kannu P, Shao Z, Malerba N, Merla G, Mefford HC, Scheffer IE, Sadleir LG. Poke G, et al. Among authors: chung b. Epilepsia. 2019 Nov;60(11):e121-e127. doi: 10.1111/epi.16372. Epub 2019 Oct 20. Epilepsia. 2019. PMID: 31631344
Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder-implications of a copy number variation involving DPP10.
Mak ASL, Chiu ATG, Leung GKC, Mak CCY, Chu YWY, Mok GTK, Tang WF, Chan KYK, Tang MHY, Lau Yim ET, So KW, Tao VQ, Fung CW, Wong VCN, Uddin M, Lee SL, Marshall CR, Scherer SW, Kan ASY, Chung BHY. Mak ASL, et al. Mol Autism. 2017 Jun 26;8:31. doi: 10.1186/s13229-017-0136-x. eCollection 2017. Mol Autism. 2017. PMID: 28670437 Free PMC article.
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
Ng BG, Sosicka P, Agadi S, Almannai M, Bacino CA, Barone R, Botto LD, Burton JE, Carlston C, Chung BH, Cohen JS, Coman D, Dipple KM, Dorrani N, Dobyns WB, Elias AF, Epstein L, Gahl WA, Garozzo D, Hammer TB, Haven J, Héron D, Herzog M, Hoganson GE, Hunter JM, Jain M, Juusola J, Lakhani S, Lee H, Lee J, Lewis K, Longo N, Lourenço CM, Mak CCY, McKnight D, Mendelsohn BA, Mignot C, Mirzaa G, Mitchell W, Muhle H, Nelson SF, Olczak M, Palmer CGS, Partikian A, Patterson MC, Pierson TM, Quinonez SC, Regan BM, Ross ME, Guillen Sacoto MJ, Scaglia F, Scheffer IE, Segal D, Singhal NS, Striano P, Sturiale L, Symonds JD, Tang S, Vilain E, Willis M, Wolfe LA, Yang H, Yano S, Powis Z, Suchy SF, Rosenfeld JA, Edmondson AC, Grunewald S, Freeze HH. Ng BG, et al. Among authors: chung bh. Hum Mutat. 2019 Jul;40(7):908-925. doi: 10.1002/humu.23731. Epub 2019 Apr 24. Hum Mutat. 2019. PMID: 30817854 Free PMC article.
2,682 results