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Year Number of Results
1982 1
1983 1
1987 1
1988 1
1994 1
1998 1
1999 3
2001 2
2002 2
2004 2
2007 1
2008 4
2009 1
2011 5
2012 1
2013 1
2014 4
2015 1
2016 3
2017 4
2018 8
2019 7
2020 23
2021 23
2022 8
2023 12
2024 10
2025 11

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123 results

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Page 1
Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome.
Engal E, Oja KT, Maroofian R, Geminder O, Le TL, Marzin P, Guimier A, Mor E, Zvi N, Elefant N, Zaki MS, Gleeson JG, Muru K, Pajusalu S, Wojcik MH, Pachat D, Elmaksoud MA, Chan Jeong W, Lee H, Bauer P, Zifarelli G, Houlden H, Daana M, Elpeleg O, Amiel J, Lyonnet S, Gordon CT, Harel T, Õunap K, Salton M, Mor-Shaked H. Engal E, et al. Among authors: le tl. Am J Hum Genet. 2023 Dec 7;110(12):2112-2119. doi: 10.1016/j.ajhg.2023.10.013. Epub 2023 Nov 13. Am J Hum Genet. 2023. PMID: 37963460 Free PMC article.
Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans.
Le TL, Galmiche L, Levy J, Suwannarat P, Hellebrekers DM, Morarach K, Boismoreau F, Theunissen TE, Lefebvre M, Pelet A, Martinovic J, Gelot A, Guimiot F, Calleroz A, Gitiaux C, Hully M, Goulet O, Chardot C, Drunat S, Capri Y, Bole-Feysot C, Nitschké P, Whalen S, Mouthon L, Babcock HE, Hofstra R, de Coo IF, Tabet AC, Molina TJ, Keren B, Brooks A, Smeets HJ, Marklund U, Gordon CT, Lyonnet S, Amiel J, Bondurand N. Le TL, et al. J Clin Invest. 2021 Mar 15;131(6):e145837. doi: 10.1172/JCI145837. J Clin Invest. 2021. PMID: 33497358 Free PMC article.
TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome.
Werren EA, LaForce GR, Srivastava A, Perillo DR, Li S, Johnson K, Baris S, Berger B, Regan SL, Pfennig CD, de Munnik S, Pfundt R, Hebbar M, Jimenez-Heredia R, Karakoc-Aydiner E, Ozen A, Dmytrus J, Krolo A, Corning K, Prijoles EJ, Louie RJ, Lebel RR, Le TL, Amiel J, Gordon CT, Boztug K, Girisha KM, Shukla A, Bielas SL, Schaffer AE. Werren EA, et al. Among authors: le tl. Nat Commun. 2024 Feb 22;15(1):1640. doi: 10.1038/s41467-024-45948-y. Nat Commun. 2024. PMID: 38388531 Free PMC article.
Consensus recommendations on Epilepsy in Phelan-McDermid syndrome.
de Coo IFM, Jesse S, Le TL, Sala C; European Phelan-McDermid syndrome consortium. de Coo IFM, et al. Among authors: le tl. Eur J Med Genet. 2023 Jun;66(6):104746. doi: 10.1016/j.ejmg.2023.104746. Epub 2023 Mar 24. Eur J Med Genet. 2023. PMID: 36967043 Free article. Review.
Microfluidic CARS cytometry.
Wang HW, Bao N, Le TL, Lu C, Cheng JX. Wang HW, et al. Among authors: le tl. Opt Express. 2008 Apr 14;16(8):5782-9. doi: 10.1364/oe.16.005782. Opt Express. 2008. PMID: 18542688 Free PMC article.
First report from the Asian Rotavirus Surveillance Network.
Bresee J, Fang ZY, Wang B, Nelson EA, Tam J, Soenarto Y, Wilopo SA, Kilgore P, Kim JS, Kang JO, Lan WS, Gaik CL, Moe K, Chen KT, Jiraphongsa C, Ponguswanna Y, Nguyen VM, Phan VT, Le TL, Hummelman E, Gentsch JR, Glass R; Asian Rotavirus Surveillance Network. Bresee J, et al. Among authors: le tl. Emerg Infect Dis. 2004 Jun;10(6):988-95. doi: 10.3201/eid1006.030519. Emerg Infect Dis. 2004. PMID: 15207047 Free PMC article. Review.
123 results