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

Year Number of Results
1984 2
1986 2
1987 1
1988 1
1990 1
1992 2
2011 1
2012 2
2013 1
2015 5
2016 5
2017 9
2018 7
2019 8
2020 14
2021 13
2022 8
2023 11
2024 3

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78 results

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Page 1
The phenotypic spectrum of SCN2A-related epilepsy.
Reynolds C, King MD, Gorman KM. Reynolds C, et al. Among authors: gorman km. Eur J Paediatr Neurol. 2020 Jan;24:117-122. doi: 10.1016/j.ejpn.2019.12.016. Epub 2019 Dec 12. Eur J Paediatr Neurol. 2020. PMID: 31924505 Review.
Paroxysmal Movement Disorders.
Harvey S, King MD, Gorman KM. Harvey S, et al. Among authors: gorman km. Front Neurol. 2021 Jun 11;12:659064. doi: 10.3389/fneur.2021.659064. eCollection 2021. Front Neurol. 2021. PMID: 34177764 Free PMC article. Review.
NRXN1 deletion syndrome; phenotypic and penetrance data from 34 families.
Al Shehhi M, Forman EB, Fitzgerald JE, McInerney V, Krawczyk J, Shen S, Betts DR, Ardle LM, Gorman KM, King MD, Green A, Gallagher L, Lynch SA. Al Shehhi M, et al. Among authors: gorman km. Eur J Med Genet. 2019 Mar;62(3):204-209. doi: 10.1016/j.ejmg.2018.07.015. Epub 2018 Jul 18. Eur J Med Genet. 2019. PMID: 30031152
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
Cif L, Demailly D, Lin JP, Barwick KE, Sa M, Abela L, Malhotra S, Chong WK, Steel D, Sanchis-Juan A, Ngoh A, Trump N, Meyer E, Vasques X, Rankin J, Allain MW, Applegate CD, Attaripour Isfahani S, Baleine J, Balint B, Bassetti JA, Baple EL, Bhatia KP, Blanchet C, Burglen L, Cambonie G, Seng EC, Bastaraud SC, Cyprien F, Coubes C, d'Hardemare V; Deciphering Developmental Disorders Study; Doja A, Dorison N, Doummar D, Dy-Hollins ME, Farrelly E, Fitzpatrick DR, Fearon C, Fieg EL, Fogel BL, Forman EB, Fox RG; Genomics England Research Consortium; Gahl WA, Galosi S, Gonzalez V, Graves TD, Gregory A, Hallett M, Hasegawa H, Hayflick SJ, Hamosh A, Hully M, Jansen S, Jeong SY, Krier JB, Krystal S, Kumar KR, Laurencin C, Lee H, Lesca G, François LL, Lynch T, Mahant N, Martinez-Agosto JA, Milesi C, Mills KA, Mondain M, Morales-Briceno H; NIHR BioResource; Ostergaard JR, Pal S, Pallais JC, Pavillard F, Perrigault PF, Petersen AK, Polo G, Poulen G, Rinne T, Roujeau T, Rogers C, Roubertie A, Sahagian M, Schaefer E, Selim L, Selway R, Sharma N, Signer R, Soldatos AG, Stevenson DA, Stewart F, Tchan M; Undiagnosed Diseases Network; Verma IC, de Vries BBA, Wilson JL, Wong DA, Zaitoun R, Zhen D, Znacz… See abstract for full author list ➔ Cif L, et al. Among authors: gorman km. Brain. 2020 Dec 5;143(11):3242-3261. doi: 10.1093/brain/awaa304. Brain. 2020. PMID: 33150406 Free PMC article.
Editorial: Improving medical diagnosis in rare diseases.
Linhares ND, Gorman KM, Brusco A. Linhares ND, et al. Among authors: gorman km. Front Genet. 2022 Sep 6;13:974129. doi: 10.3389/fgene.2022.974129. eCollection 2022. Front Genet. 2022. PMID: 36147485 Free PMC article. No abstract available.
A Quiver of the Chin.
McGrath CP, Gorman KM, King MD. McGrath CP, et al. Among authors: gorman km. Pediatr Neurol. 2019 Oct;99:91. doi: 10.1016/j.pediatrneurol.2019.04.022. Epub 2019 May 2. Pediatr Neurol. 2019. PMID: 31160121 No abstract available.
MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia.
Reid KM, Spaull R, Salian S, Barwick K, Meyer E, Zhen J, Hirata H, Sheipouri D, Benkerroum H, Gorman KM, Papandreou A, Simpson MA, Hirano Y, Farabella I, Topf M, Grozeva D, Carss K, Smith M, Pall H, Lunt P, De Gressi S, Kamsteeg EJ, Haack TB, Carr L, Guerreiro R, Bras J, Maher ER, Scott RH, Vandenberg RJ, Raymond FL, Chong WK, Sudhakar S, Mankad K, Reith ME, Campeau PM, Harvey RJ, Kurian MA. Reid KM, et al. Among authors: gorman km. Mov Disord. 2022 Oct;37(10):2139-2146. doi: 10.1002/mds.29147. Epub 2022 Jul 25. Mov Disord. 2022. PMID: 35876425 Free PMC article.
Increased rates of invasive bacterial disease in late 2022.
Kyne S, Ní Shíocháin D, McDonnell C, Byrne A, Sutton-Fitzpatrick U, Crowley N, Nertney L, Myers C, Waldron J, Ahmed A, Wrynne C, Fennell J, Fitzpatrick P, Fitzsimons JJ, Scanlan B, Vaughan D, Gorman KM, Cunney R, Smyth AE, Hourihane JO. Kyne S, et al. Among authors: gorman km. Eur J Pediatr. 2024 Jan;183(1):323-334. doi: 10.1007/s00431-023-05282-9. Epub 2023 Oct 26. Eur J Pediatr. 2024. PMID: 37882822
Managing the risks of on-site health centers.
Gorman KM, Miller RM. Gorman KM, et al. AAOHN J. 2011 Nov;59(11):483-90. doi: 10.3928/08910162-20111017-02. Epub 2011 Oct 24. AAOHN J. 2011. PMID: 22017191 Review.
78 results