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R54C Mutation of NOTCH3 Gene in the First Rungus Family with CADASIL.
Lim KS, Tan AH, Lim CS, Chua KH, Lee PC, Ramli N, Rajahram GS, Hussin FT, Wong KT, Bhattacharjee MB, Ng CC. Lim KS, et al. Among authors: lim cs. PLoS One. 2015 Aug 13;10(8):e0135470. doi: 10.1371/journal.pone.0135470. eCollection 2015. PLoS One. 2015. PMID: 26270344 Free PMC article.
Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly.
Tsai MH, Muir AM, Wang WJ, Kang YN, Yang KC, Chao NH, Wu MF, Chang YC, Porter BE, Jansen LA, Sebire G, Deconinck N, Fan WL, Su SC, Chung WH, Almanza Fuerte EP, Mehaffey MG; University of Washington Center for Mendelian Genomics; Ng CC, Chan CK, Lim KS, Leventer RJ, Lockhart PJ, Riney K, Damiano JA, Hildebrand MS, Mirzaa GM, Dobyns WB, Berkovic SF, Scheffer IE, Tsai JW, Mefford HC. Tsai MH, et al. Among authors: lim ks. Neuron. 2020 Apr 22;106(2):237-245.e8. doi: 10.1016/j.neuron.2020.01.027. Epub 2020 Feb 24. Neuron. 2020. PMID: 32097630 Free PMC article.
866 results