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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 5
1988 5
1989 1
1990 2
1991 1
1992 3
1993 3
1994 2
1995 4
1996 2
1997 2
1998 2
1999 2
2001 1
2002 1
2003 2
2004 1
2005 2
2006 2
2007 5
2008 6
2009 7
2010 11
2011 11
2012 14
2013 9
2014 6
2015 25
2016 17
2017 16
2018 12
2019 17
2020 25
2021 28
2022 23
2023 19
2024 17
2025 13

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280 results

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Page 1
Phenotypic Spectrum in Individuals With Pathogenic GABRG2 Loss- and Gain-of-Function Variants.
Rossi A, Lin SXN, Absalom NL, Ortiz-De la Rosa S, Liao VWY, Mohammadi NA, Viswanathan S, Stödberg T, Danieli A, Bonanni P, Aeby A, Orsini A, Bonuccelli A, Rüegger A, Giraldez BG, Isidor B, Stüve B, Marini C, Cesaroni E, Fenger CD, Philippe C, Meunier C, Lederer D, Moortgat S, Spinelli E, Fallica E, Zeiner F, Bauman M, Licchetta L, Bisulli F, Operto FF, Benkel-Herrenbrueck I, Gorman KM, Johannesen KM, Platzer K, Schnabel F, Lagae L, Laufs M, Zordania R, Malone S, Messana T, Werckx W, Jonsson C, Afawi Z, Foiadelli T, Halleb Y, Stoeva R, Jennesson-Lyver M, Lesca G, Guerrini R, Berkovic SF, Scheffer IE, Chebib M, Gardella E, Møller RS, Rubboli G, Ahring PK. Rossi A, et al. Among authors: gorman km. Neurology. 2025 Jul 22;105(2):e213644. doi: 10.1212/WNL.0000000000213644. Epub 2025 Jun 26. Neurology. 2025. PMID: 40570274 Free PMC article.
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, Isfahani SA, 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, Znaczko A, Dale… See abstract for full author list ➔ Cif L, et al. Among authors: gorman km. ArXiv [Preprint]. 2025 Feb 10:arXiv:2502.06320v1. ArXiv. 2025. Update in: Brain. 2020 Dec 5;143(11):3242-3261. doi: 10.1093/brain/awaa304. PMID: 39990802 Free PMC article. Updated. Preprint.
Burnt Plastic (Pyroplastic) from the M/V X-Press Pearl Ship Fire and Plastic Spill Contain Compounds That Activate Endocrine and Metabolism-Related Human and Fish Transcription Factors.
James BD, Medvedev AV, Medvedeva LA, Martsen E, Gorman KL, Lin B, Makarov SS, Aluwihare LI, de Vos A, Reddy CM, Hahn ME. James BD, et al. Among authors: gorman kl. Environ Health (Wash). 2024 Oct 30;3(1):91-101. doi: 10.1021/envhealth.4c00172. eCollection 2025 Jan 17. Environ Health (Wash). 2024. PMID: 39839249 Free PMC article.
Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndrome.
Karimi K, Lichtenstein Y, Reilly J, McConkey H, Relator R, Levy MA, Kerkhof J, Bouman A, Symonds JD, Ghoumid J, Smol T, Clarkson K, Drazba K, Louie RJ, Miranda V, McCann C, Motta J, Lancaster E, Sallevelt S, Sidlow R, Morrison J, Hannibal M, O'Shea J, Marin V, Prasad C, Patel C, Raskin S, Maria-Noelia SM, Diaz de Bustamante A, Marom D, Barkan T, Keren B, Poirsier C, Cohen L, Colin E, Gorman K, Gallant E, Menke LA, Valenzuela Palafoll I, Hauser N, Wentzensen IM, Rankin J, Turnpenny PD, Campeau PM, Balci TB, Tedder ML, Sadikovic B, Weiss K. Karimi K, et al. Among authors: gorman k. Am J Hum Genet. 2025 Feb 6;112(2):414-427. doi: 10.1016/j.ajhg.2024.12.020. Epub 2025 Jan 16. Am J Hum Genet. 2025. PMID: 39824190
280 results