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

Year Number of Results
1985 2
1988 1
1990 1
1991 1
1992 1
1993 1
2004 1
2006 1
2007 1
2009 2
2010 2
2011 4
2012 1
2013 1
2014 4
2015 4
2016 2
2017 4
2018 1
2019 1
2020 2
2021 2
2022 2
2023 2
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2025 0

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40 results

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Page 1
Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome.
Angelozzi M, Karvande A, Molin AN, Ritter AL, Leonard JMM, Savatt JM, Douglass K, Myers SM, Grippa M, Tolchin D, Zackai E, Donoghue S, Hurst ACE, Descartes M, Smith K, Velasco D, Schmanski A, Crunk A, Tokita MJ, de Lange IM, van Gassen K, Robinson H, Guegan K, Suri M, Patel C, Bournez M, Faivre L, Tran-Mau-Them F, Baker J, Fabie N, Weaver K, Shillington A, Hopkin RJ, Barge-Schaapveld DQCM, Ruivenkamp CA, Bökenkamp R, Vergano S, Seco Moro MN, Díaz de Bustamante A, Misra VK, Kennelly K, Rogers C, Friedman J, Wigby KM, Lenberg J, Graziano C, Ahrens-Nicklas RC, Lefebvre V. Angelozzi M, et al. Among authors: kennelly k. J Med Genet. 2022 Nov;59(11):1058-1068. doi: 10.1136/jmedgenet-2021-108375. Epub 2022 Mar 1. J Med Genet. 2022. PMID: 35232796 Free PMC article.
Reply: To PMID 24122745.
Mauricio EA, Dimberg EL, Kennelly KD, Rubin DI. Mauricio EA, et al. Among authors: kennelly kd. Muscle Nerve. 2014 May;49(5):772. doi: 10.1002/mus.24206. Epub 2014 Mar 17. Muscle Nerve. 2014. PMID: 24515625 No abstract available.
Editorial by concerned physicians: Unintended effect of the orphan drug act on the potential cost of 3,4-diaminopyridine.
Burns TM, Smith GA, Allen JA, Amato AA, Arnold WD, Barohn R, Benatar M, Bird SJ, Bromberg M, Chahin N, Ciafaloni E, Cohen JA, Corse A, Crum BA, David WS, Dimberg E, Sousa EA, Donofrio PD, Dyck PJ, Engel AG, Ensrud ER, Ferrante M, Freimer M, Gable KL, Gibson S, Gilchrist JM, Goldstein JM, Gooch CL, Goodman BP, Gorelov D, Gospe SM Jr, Goyal NA, Guidon AC, Guptill JT, Gutmann L, Gutmann L, Gwathmey K, Harati Y, Harper CM Jr, Hehir MK, Hobson-Webb LD, Howard JF Jr, Jackson CE, Johnson N, Jones SM, Juel VC, Kaminski HJ, Karam C, Kennelly KD, Khella S, Khoury J, Kincaid JC, Kissel JT, Kolb N, Lacomis D, Ladha S, Larriviere D, Lewis RA, Li Y, Litchy WJ, Logigian E, Lou JS, MacGowen DJ, Maselli R, Massey JM, Mauermann ML, Mathews KD, Meriggioli MN, Miller RG, Moon JS, Mozaffar T, Nations SP, Nowak RJ, Ostrow LW, Pascuzzi RM, Peltier A, Ruzhansky K, Richman DP, Ross MA, Rubin DI, Russell JA, Sachs GM, Salajegheh MK, Saperstein DS, Scelsa S, Selcen D, Shaibani A, Shieh PB, Silvestri NJ, Singleton JR, Smith BE, So YT, Solorzano G, Sorenson EJ, Srinivasen J, Tavee J, Tawil R, Thaisetthawatkul P, Thornton C, Trivedi J, Vernino S, Wang AK, Webb TA, Weiss MD, Windebank AJ, Wolfe GI. Burns TM, et al. Among authors: kennelly kd. Muscle Nerve. 2016 Feb;53(2):165-8. doi: 10.1002/mus.25009. Epub 2015 Dec 21. Muscle Nerve. 2016. PMID: 26662952 No abstract available.
Occurrence of Crohn's disease with Parkinson's disease.
Fujioka S, Curry SE, Kennelly KD, Tacik P, Heckman MG, Tsuboi Y, Strongosky AJ, van Gerpen JA, Uitti RJ, Ross OA, Ikezu T, Wszolek ZK. Fujioka S, et al. Among authors: kennelly kd. Parkinsonism Relat Disord. 2017 Apr;37:116-117. doi: 10.1016/j.parkreldis.2017.01.013. Epub 2017 Feb 10. Parkinsonism Relat Disord. 2017. PMID: 28215729 Free PMC article.
Whole-exome sequencing for variant discovery in blepharospasm.
Tian J, Vemula SR, Xiao J, Valente EM, Defazio G, Petrucci S, Gigante AF, Rudzińska-Bar M, Wszolek ZK, Kennelly KD, Uitti RJ, van Gerpen JA, Hedera P, Trimble EJ, LeDoux MS. Tian J, et al. Among authors: kennelly kd. Mol Genet Genomic Med. 2018 May 16;6(4):601-26. doi: 10.1002/mgg3.411. Online ahead of print. Mol Genet Genomic Med. 2018. PMID: 29770609 Free PMC article.
Retrobulbar heavy liquid discovered 5 years postvitrectomy.
Hille DM, Coughlan F, McAllister IL, Kennelly KP. Hille DM, et al. Among authors: kennelly kp. BMJ Case Rep. 2017 Nov 21;2017:bcr2017223003. doi: 10.1136/bcr-2017-223003. BMJ Case Rep. 2017. PMID: 29167184 Free PMC article. No abstract available.
40 results