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Results by year

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

Year Number of Results
1976 1
1978 1
1979 1
1981 1
1983 1
1986 1
1989 1
1990 3
1991 4
1992 1
1993 2
1994 2
1995 1
1997 1
1999 1
2000 1
2001 1
2002 2
2003 2
2004 1
2006 8
2007 6
2008 2
2009 1
2011 3
2012 2
2013 9
2014 4
2015 14
2016 29
2017 29
2018 68
2019 48
2020 69
2021 73
2022 70
2023 71
2024 33

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Publication date

PubMed for id: 813018

500 results

Results by year

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Page 1
GABRA1-Related Disorders: From Genetic to Functional Pathways.
Musto E, Liao VWY, Johannesen KM, Fenger CD, Lederer D, Kothur K, Fisk K, Bennetts B, Vrielynck P, Delaby D, Ceulemans B, Weckhuysen S, Sparber P, Bouman A, Ardern-Holmes S, Troedson C, Battaglia DI, Goel H, Feyma T, Bakhtiari S, Tjoa L, Boxill M, Demina N, Shchagina O, Dadali E, Kruer M, Cantalupo G, Contaldo I, Polster T, Isidor B, Bova SM, Fazeli W, Wouters L, Miranda MJ, Darra F, Pede E, Le Duc D, Jamra RA, Küry S, Proietti J, McSweeney N, Brokamp E, Andrews PI, Gouray Garcia M, Chebib M, Møller RS, Ahring PK, Gardella E. Musto E, et al. Ann Neurol. 2023 Aug 22. doi: 10.1002/ana.26774. Online ahead of print. Ann Neurol. 2023. PMID: 37606373
Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study.
D'Gama AM, Mulhern S, Sheidley BR, Boodhoo F, Buts S, Chandler NJ, Cobb J, Curtis M, Higginbotham EJ, Holland J, Khan T, Koh J, Liang NSY, McRae L, Nesbitt SE, Oby BT, Paternoster B, Patton A, Rose G, Scotchman E, Valentine R, Wiltrout KN; Gene-STEPS Study Group; IPCHiP Executive Committee; Hayeems RZ, Jain P, Lunke S, Marshall CR, Rockowitz S, Sebire NJ, Stark Z, White SM, Chitty LS, Cross JH, Scheffer IE, Chau V, Costain G, Poduri A, Howell KB, McTague A. D'Gama AM, et al. Lancet Neurol. 2023 Sep;22(9):812-825. doi: 10.1016/S1474-4422(23)00246-6. Lancet Neurol. 2023. PMID: 37596007 Free article.
Early life seizures and epileptic spasms in STXBP1-related disorders.
Thalwitzer KM, Xian J, deCampo D, Parthasarathy S, Magielski J, Sullivan KR, Goss J, Rigby CS, Boland M, Prosser B, Ruggiero SM, Syrbe S, Helbig I. Thalwitzer KM, et al. medRxiv [Preprint]. 2023 Jun 28:2023.06.26.23291892. doi: 10.1101/2023.06.26.23291892. medRxiv. 2023. PMID: 37425705 Free PMC article. Updated. Preprint.
N-Glycoprofiling of SLC35A2-CDG: Patient with a Novel Hemizygous Variant.
Kodríková R, Pakanová Z, Krchňák M, Šedivá M, Šesták S, Květoň F, Beke G, Šalingová A, Skalická K, Brennerová K, Jančová E, Baráth P, Mucha J, Nemčovič M. Kodríková R, et al. Biomedicines. 2023 Feb 16;11(2):580. doi: 10.3390/biomedicines11020580. Biomedicines. 2023. PMID: 36831116 Free PMC article.
500 results