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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2008 2
2009 2
2010 9
2011 4
2012 3
2013 5
2014 3
2015 1
2016 3
2017 5
2018 4
2019 5
2020 7
2021 3
2022 7
2023 5
2024 0

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60 results

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Page 1
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Himmelreich N, Bertoldi M, Alfadhel M, Alghamdi MA, Anikster Y, Bao X, Bashiri FA, Zeev BB, Bisello G, Ceylan AC, Chien YH, Choy YS, Elsea SH, Flint L, García-Cazorla À, Gijavanekar C, Gümüş EY, Hamad MH, Hişmi B, Honzik T, Hübschmann OK, Hwu WL, Ibáñez-Micó S, Jeltsch K, Juliá-Palacios N, Kasapkara ÇS, Kurian MA, Kusmierska K, Liu N, Ngu LH, Odom JD, Ong WP, Opladen T, Oppeboen M, Pearl PL, Pérez B, Pons R, Rygiel AM, Shien TE, Spaull R, Sykut-Cegielska J, Tabarki B, Tangeraas T, Thöny B, Wassenberg T, Wen Y, Yakob Y, Yin JGC, Zeman J, Blau N. Himmelreich N, et al. Among authors: ngu lh. Mol Genet Metab. 2023 Jul;139(3):107624. doi: 10.1016/j.ymgme.2023.107624. Epub 2023 Jun 2. Mol Genet Metab. 2023. PMID: 37348148 Free article.
Rare disease in Malaysia: Challenges and solutions.
Shafie AA, Supian A, Ahmad Hassali MA, Ngu LH, Thong MK, Ayob H, Chaiyakunapruk N. Shafie AA, et al. Among authors: ngu lh. PLoS One. 2020 Apr 2;15(4):e0230850. doi: 10.1371/journal.pone.0230850. eCollection 2020. PLoS One. 2020. PMID: 32240232 Free PMC article.
Myoclonus-Ataxia Syndrome Associated with Hyperprolinemia Type I.
Ong TL, Lau YH, Ngu LH, Hadi D, Lau KM, Mawardi AS. Ong TL, et al. Among authors: ngu lh. Mov Disord Clin Pract. 2023 Aug 24;10(Suppl 3):S38-S40. doi: 10.1002/mdc3.13780. eCollection 2023 Aug. Mov Disord Clin Pract. 2023. PMID: 37636236 No abstract available.
Correction: Rare disease in Malaysia: Challenges and solutions.
Shafie AA, Supian A, Hassali MAA, Ngu LH, Thong MK, Ayob H, Chaiyakunapruk N. Shafie AA, et al. Among authors: ngu lh. PLoS One. 2022 Aug 26;17(8):e0273939. doi: 10.1371/journal.pone.0273939. eCollection 2022. PLoS One. 2022. PMID: 36018891 Free PMC article.
Efficient detection of copy-number variations using exome data: Batch- and sex-based analyses.
Uchiyama Y, Yamaguchi D, Iwama K, Miyatake S, Hamanaka K, Tsuchida N, Aoi H, Azuma Y, Itai T, Saida K, Fukuda H, Sekiguchi F, Sakaguchi T, Lei M, Ohori S, Sakamoto M, Kato M, Koike T, Takahashi Y, Tanda K, Hyodo Y, Honjo RS, Bertola DR, Kim CA, Goto M, Okazaki T, Yamada H, Maegaki Y, Osaka H, Ngu LH, Siew CG, Teik KW, Akasaka M, Doi H, Tanaka F, Goto T, Guo L, Ikegawa S, Haginoya K, Haniffa M, Hiraishi N, Hiraki Y, Ikemoto S, Daida A, Hamano SI, Miura M, Ishiyama A, Kawano O, Kondo A, Matsumoto H, Okamoto N, Okanishi T, Oyoshi Y, Takeshita E, Suzuki T, Ogawa Y, Handa H, Miyazono Y, Koshimizu E, Fujita A, Takata A, Miyake N, Mizuguchi T, Matsumoto N. Uchiyama Y, et al. Among authors: ngu lh. Hum Mutat. 2021 Jan;42(1):50-65. doi: 10.1002/humu.24129. Epub 2020 Nov 11. Hum Mutat. 2021. PMID: 33131168
Detection of copy number variations in epilepsy using exome data.
Tsuchida N, Nakashima M, Kato M, Heyman E, Inui T, Haginoya K, Watanabe S, Chiyonobu T, Morimoto M, Ohta M, Kumakura A, Kubota M, Kumagai Y, Hamano SI, Lourenco CM, Yahaya NA, Ch'ng GS, Ngu LH, Fattal-Valevski A, Weisz Hubshman M, Orenstein N, Marom D, Cohen L, Goldberg-Stern H, Uchiyama Y, Imagawa E, Mizuguchi T, Takata A, Miyake N, Nakajima H, Saitsu H, Miyatake S, Matsumoto N. Tsuchida N, et al. Among authors: ngu lh. Clin Genet. 2018 Mar;93(3):577-587. doi: 10.1111/cge.13144. Epub 2018 Jan 25. Clin Genet. 2018. PMID: 28940419
60 results