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Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.
Am J Hum Genet. 2021 Feb 4;108(2):346-356. doi: 10.1016/j.ajhg.2021.01.007. Epub 2021 Jan 28.
Am J Hum Genet. 2021.
PMID: 33513338
Free PMC article.
A novel homozygous truncating variant of NECAP1 in early infantile epileptic encephalopathy: the second case report of EIEE21.
Mizuguchi T, Nakashima M, Moey LH, Ch'ng GS, Khoo TB, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Saitsu H, Matsumoto N.
Mizuguchi T, et al. Among authors: moey lh.
J Hum Genet. 2019 Apr;64(4):347-350. doi: 10.1038/s10038-018-0556-2. Epub 2019 Jan 9.
J Hum Genet. 2019.
PMID: 30626896
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Biallelic null variants in ZNF142 cause global developmental delay with familial epilepsy and dysmorphic features.
Kameyama S, Mizuguchi T, Fukuda H, Moey LH, Keng WT, Okamoto N, Tsuchida N, Uchiyama Y, Koshimizu E, Hamanaka K, Fujita A, Miyatake S, Matsumoto N.
Kameyama S, et al. Among authors: moey lh.
J Hum Genet. 2022 Mar;67(3):169-173. doi: 10.1038/s10038-021-00978-y. Epub 2021 Sep 17.
J Hum Genet. 2022.
PMID: 34531528
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Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt.
Shepherdson JL, Hutchison K, Don DW, McGillivray G, Choi TI, Allan CA, Amor DJ, Banka S, Basel DG, Buch LD, Carere DA, Carroll R, Clayton-Smith J, Crawford A, Dunø M, Faivre L, Gilfillan CP, Gold NB, Gripp KW, Hobson E, Holtz AM, Innes AM, Isidor B, Jackson A, Katsonis P, Amel Riazat Kesh L; Genomics England Research Consortium; Küry S, Lecoquierre F, Lockhart P, Maraval J, Matsumoto N, McCarrier J, McCarthy J, Miyake N, Moey LH, Németh AH, Østergaard E, Patel R, Pope K, Posey JE, Schnur RE, Shaw M, Stolerman E, Taylor JP, Wadman E, Wakeling E, White SM, Wong LC, Lupski JR, Lichtarge O, Corbett MA, Gecz J, Nicolet CM, Farnham PJ, Kim CH, Shinawi M.
Shepherdson JL, et al. Among authors: moey lh.
Am J Hum Genet. 2024 Mar 7;111(3):487-508. doi: 10.1016/j.ajhg.2024.01.007. Epub 2024 Feb 6.
Am J Hum Genet. 2024.
PMID: 38325380
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Optic disc swelling in acromicric and geleophysic dysplasia.
Moey LH, Flaherty M, Zankl A.
Moey LH, et al.
Am J Med Genet A. 2019 Sep;179(9):1898-1901. doi: 10.1002/ajmg.a.61268. Epub 2019 Jun 22.
Am J Med Genet A. 2019.
PMID: 31228225
No abstract available.
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Fructose-1,6-bisphosphatase deficiency as a cause of recurrent hypoglycemia and metabolic acidosis: Clinical and molecular findings in Malaysian patients.
Moey LH, Abdul Azize NA, Yakob Y, Leong HY, Keng WT, Chen BC, Ngu LH.
Moey LH, et al.
Pediatr Neonatol. 2018 Aug;59(4):397-403. doi: 10.1016/j.pedneo.2017.11.006. Epub 2017 Nov 13.
Pediatr Neonatol. 2018.
PMID: 29203193
Free article.
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Oncologist-led BRCA counselling improves access to cancer genetic testing in middle-income Asian country, with no significant impact on psychosocial outcomes.
Yoon SY, Wong SW, Lim J, Ahmad S, Mariapun S, Padmanabhan H, Hassan NT, Lau SY, Ch'ng GS, Haniffa M, Ong WP, Rethanavelu K, Moey LH, Keng WT, Omar J, Mohd Abas MN, Yong CM, Ramasamy V, Md Noor MR, Aliyas I, Lim MCK, Suberamaniam A, Mat Adenan NA, Ahmad ZA, Ho GF, Abdul Malik R, Subramaniam S, Khoo BP, Raja A, Chin YS, Sim WW, Teh BH, Kho SK, Ong ESE, Voon PJ, Ismail G, Lee CL, Abdullah BZ, Loo KS, Lim CS, Lee SJ, Lim KJL, Shafiee MN, Ismail F, Latiff ZA, Ismail MP, Mohamed Jamli MF, Kumarasamy S, Leong KW, Low J, Md Yusof M, Ahmad Mustafa AM, Mat Ali NH, Makanjang M, Tayib S, Cheah N, Lim BK, Fong CK, Foo YC, Mellor Abdullah M, Tan TS, Chow DSY, Ho KF, Raman R, Radzi A, Deniel A, Teoh DCY, Ang SF, Joseph JK, Ng PHO, Tho LM, Ahmad AR, Muin I, Bleiker E, George A, Thong MK, Woo YL, Teo SH.
Yoon SY, et al. Among authors: moey lh.
J Med Genet. 2022 Mar;59(3):220-229. doi: 10.1136/jmedgenet-2020-107416. Epub 2021 Feb 1.
J Med Genet. 2022.
PMID: 33526602
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