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

Year Number of Results
2010 2
2012 2
2013 3
2014 3
2015 3
2016 2
2017 3
2018 3
2019 5
2020 2
2021 3
2022 3
2023 1
2024 4

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34 results

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Page 1
Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP.
Van Dijck A, Vulto-van Silfhout AT, Cappuyns E, van der Werf IM, Mancini GM, Tzschach A, Bernier R, Gozes I, Eichler EE, Romano C, Lindstrand A, Nordgren A; ADNP Consortium; Kvarnung M, Kleefstra T, de Vries BBA, Küry S, Rosenfeld JA, Meuwissen ME, Vandeweyer G, Kooy RF. Van Dijck A, et al. Biol Psychiatry. 2019 Feb 15;85(4):287-297. doi: 10.1016/j.biopsych.2018.02.1173. Epub 2018 Mar 15. Biol Psychiatry. 2019. PMID: 29724491 Free PMC article.
The 2017 Pediatric Neurology Training Publication Award.
Scher MS, Breningstall G, Gilbert D, Jordan L, Khakoo Y, LePichon JB. Scher MS, et al. Pediatr Neurol. 2018 Sep;86:4. doi: 10.1016/j.pediatrneurol.2018.08.009. Epub 2018 Aug 10. Pediatr Neurol. 2018. PMID: 30390955 No abstract available.
The 2018 Pediatric Neurology Trainee Publication Award.
Scher MS, Breningstall G, Gilbert D, Jordan L, Khakoo Y, LePichon JB. Scher MS, et al. Pediatr Neurol. 2019 Dec;101:1. doi: 10.1016/j.pediatrneurol.2019.09.001. Epub 2019 Sep 5. Pediatr Neurol. 2019. PMID: 31623938 No abstract available.
Pediatric Head Trauma: A Review and Update.
Gelineau-Morel RN, Zinkus TP, Le Pichon JB. Gelineau-Morel RN, et al. Among authors: le pichon jb. Pediatr Rev. 2019 Sep;40(9):468-481. doi: 10.1542/pir.2018-0257. Pediatr Rev. 2019. PMID: 31477589 Review. No abstract available.
Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes.
Cohen ASA, Farrow EG, Abdelmoity AT, Alaimo JT, Amudhavalli SM, Anderson JT, Bansal L, Bartik L, Baybayan P, Belden B, Berrios CD, Biswell RL, Buczkowicz P, Buske O, Chakraborty S, Cheung WA, Coffman KA, Cooper AM, Cross LA, Curran T, Dang TTT, Elfrink MM, Engleman KL, Fecske ED, Fieser C, Fitzgerald K, Fleming EA, Gadea RN, Gannon JL, Gelineau-Morel RN, Gibson M, Goldstein J, Grundberg E, Halpin K, Harvey BS, Heese BA, Hein W, Herd SM, Hughes SS, Ilyas M, Jacobson J, Jenkins JL, Jiang S, Johnston JJ, Keeler K, Korlach J, Kussmann J, Lambert C, Lawson C, Le Pichon JB, Leeder JS, Little VC, Louiselle DA, Lypka M, McDonald BD, Miller N, Modrcin A, Nair A, Neal SH, Oermann CM, Pacicca DM, Pawar K, Posey NL, Price N, Puckett LMB, Quezada JF, Raje N, Rowell WJ, Rush ET, Sampath V, Saunders CJ, Schwager C, Schwend RM, Shaffer E, Smail C, Soden S, Strenk ME, Sullivan BR, Sweeney BR, Tam-Williams JB, Walter AM, Welsh H, Wenger AM, Willig LK, Yan Y, Younger ST, Zhou D, Zion TN, Thiffault I, Pastinen T. Cohen ASA, et al. Among authors: le pichon jb. Genet Med. 2022 Jun;24(6):1336-1348. doi: 10.1016/j.gim.2022.02.007. Epub 2022 Mar 16. Genet Med. 2022. PMID: 35305867 Free article.
Editorial: The 2016 Pediatric Neurology Trainee Publication Award.
Scher MS, Breningstall G, Gilbert DL, Jordan L, Khakoo Y, LePichon JB. Scher MS, et al. Pediatr Neurol. 2017 Oct;75:3. doi: 10.1016/j.pediatrneurol.2017.07.012. Epub 2017 Jul 27. Pediatr Neurol. 2017. PMID: 28826612 No abstract available.
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Paul MS, Michener SL, Pan H, Chan H, Pfliger JM, Rosenfeld JA, Lerma VC, Tran A, Longley MA, Lewis RA, Weisz-Hubshman M, Bekheirnia MR, Bekheirnia N, Massingham L, Zech M, Wagner M, Engels H, Cremer K, Mangold E, Peters S, Trautmann J, Mester JL, Guillen Sacoto MJ, Person R, McDonnell PP, Cohen SR, Lusk L, Cohen ASA, Le Pichon JB, Pastinen T, Zhou D, Engleman K, Racine C, Faivre L, Moutton S, Denommé-Pichon AS, Koh HY, Poduri A, Bolton J, Knopp C, Julia Suh DS, Maier A, Toosi MB, Karimiani EG, Maroofian R, Schaefer GB, Ramakumaran V, Vasudevan P, Prasad C, Osmond M, Schuhmann S, Vasileiou G, Russ-Hall S, Scheffer IE, Carvill GL, Mefford H; Undiagnosed Diseases Network; Bacino CA, Lee BH, Chao HT. Paul MS, et al. Among authors: le pichon jb. Am J Hum Genet. 2024 Jan 4;111(1):96-118. doi: 10.1016/j.ajhg.2023.12.004. Am J Hum Genet. 2024. PMID: 38181735
Barriers, access and management of paediatric epilepsy with telehealth.
Gali K, Joshi S, Hueneke S, Katzenbach A, Radecki L, Calabrese T, Fletcher L, Trandafir C, Wilson C, Goyal M, Wusthoff CJ, Le Pichon JB, Corvalan R, Golson A, Hardy J, Smith M, Cook E, Bonkowsky JL. Gali K, et al. Among authors: le pichon jb. J Telemed Telecare. 2022 Apr;28(3):213-223. doi: 10.1177/1357633X20969531. Epub 2020 Nov 12. J Telemed Telecare. 2022. PMID: 33183129 Free PMC article.
34 results