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

Year Number of Results
2004 1
2006 1
2008 2
2009 2
2010 2
2011 3
2012 4
2013 3
2014 1
2015 2
2016 1
2017 3
2018 4
2019 8
2020 6
2021 8
2022 5
2023 3
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50 results
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Page 1
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.
Guo H, Bettella E, Marcogliese PC, Zhao R, Andrews JC, Nowakowski TJ, Gillentine MA, Hoekzema K, Wang T, Wu H, Jangam S, Liu C, Ni H, Willemsen MH, van Bon BW, Rinne T, Stevens SJC, Kleefstra T, Brunner HG, Yntema HG, Long M, Zhao W, Hu Z, Colson C, Richard N, Schwartz CE, Romano C, Castiglia L, Bottitta M, Dhar SU, Erwin DJ, Emrick L, Keren B, Afenjar A, Zhu B, Bai B, Stankiewicz P, Herman K; University of Washington Center for Mendelian Genomics; Mercimek-Andrews S, Juusola J, Wilfert AB, Abou Jamra R, Büttner B, Mefford HC, Muir AM, Scheffer IE, Regan BM, Malone S, Gecz J, Cobben J, Weiss MM, Waisfisz Q, Bijlsma EK, Hoffer MJV, Ruivenkamp CAL, Sartori S, Xia F, Rosenfeld JA, Bernier RA, Wangler MF, Yamamoto S, Xia K, Stegmann APA, Bellen HJ, Murgia A, Eichler EE. Guo H, et al. Among authors: richard n. Nat Commun. 2019 Oct 15;10(1):4679. doi: 10.1038/s41467-019-12435-8. Nat Commun. 2019. PMID: 31616000 Free PMC article.
Rapid Improvement after Starting Elexacaftor-Tezacaftor-Ivacaftor in Patients with Cystic Fibrosis and Advanced Pulmonary Disease.
Burgel PR, Durieu I, Chiron R, Ramel S, Danner-Boucher I, Prevotat A, Grenet D, Marguet C, Reynaud-Gaubert M, Macey J, Mely L, Fanton A, Quetant S, Lemonnier L, Paillasseur JL, Da Silva J, Martin C; French Cystic Fibrosis Reference Network Study Group. Burgel PR, et al. Am J Respir Crit Care Med. 2021 Jul 1;204(1):64-73. doi: 10.1164/rccm.202011-4153OC. Am J Respir Crit Care Med. 2021. PMID: 33600738
[Acute respiratory distress in children].
Richard N, Pham A, Thouvenin G. Richard N, et al. Rev Prat. 2020 Apr;70(4):e111-e114. Rev Prat. 2020. PMID: 32877112 French. No abstract available.
Two RFC1 splicing variants in CANVAS.
Weber S, Coarelli G, Heinzmann A, Monin ML, Richard N, Gerard M, Durr A, Huin V. Weber S, et al. Among authors: richard n. Brain. 2023 Mar 1;146(3):e14-e16. doi: 10.1093/brain/awac466. Brain. 2023. PMID: 36478048 No abstract available.
"Please lower your mask": A hard diagnosis in COVID-19 times.
Richard N, Demangeat T, Grigioni S, Achamrah N, Lvovschi VE. Richard N, et al. J Am Coll Emerg Physicians Open. 2022 Mar 14;3(2):e12692. doi: 10.1002/emp2.12692. eCollection 2022 Apr. J Am Coll Emerg Physicians Open. 2022. PMID: 35316968 Free PMC article. No abstract available.
[GnRH deficiency: new insights from genetics].
Kottler ML, Hamel A, Malville E, Richard N. Kottler ML, et al. Among authors: richard n. J Soc Biol. 2004;198(1):80-7. J Soc Biol. 2004. PMID: 15146960 Review. French.
An Investigation of O-Demethyl Tramadol/Tramadol Ratio for Cytochrome P450 2D6 Phenotyping: The CYTRAM Study.
De La Gastine B, Percevault S, Varin L, Richard N, Fobe F, Plaud B, Daccache G, Compere V, Parienti JJ, Coquerel A, Loilier M, Bleyzac N, Bourguignon L, Goutelle S, Lelong-Boulouard V. De La Gastine B, et al. Among authors: richard n. Pharmaceutics. 2022 Oct 12;14(10):2177. doi: 10.3390/pharmaceutics14102177. Pharmaceutics. 2022. PMID: 36297612 Free PMC article.
50 results