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

Year Number of Results
1956 1
1982 2
1984 1
1985 1
1986 1
1987 1
1988 1
1989 3
1990 2
1991 4
1993 7
1994 1
1995 2
1996 1
1997 2
1998 7
1999 3
2000 4
2001 3
2002 2
2003 2
2004 4
2005 3
2006 7
2007 6
2008 3
2009 11
2010 8
2011 11
2012 11
2013 2
2014 11
2015 12
2016 6
2017 6
2018 6
2019 7
2020 7
2021 12
2022 11
2023 11
2024 1

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185 results

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Page 1
PIGN encephalopathy: Characterizing the epileptology.
Bayat A, de Valles-Ibáñez G, Pendziwiat M, Knaus A, Alt K, Biamino E, Bley A, Calvert S, Carney P, Caro-Llopis A, Ceulemans B, Cousin J, Davis S, des Portes V, Edery P, England E, Ferreira C, Freeman J, Gener B, Gorce M, Heron D, Hildebrand MS, Jezela-Stanek A, Jouk PS, Keren B, Kloth K, Kluger G, Kuhn M, Lemke JR, Li H, Martinez F, Maxton C, Mefford HC, Merla G, Mierzewska H, Muir A, Monfort S, Nicolai J, Norman J, O'Grady G, Oleksy B, Orellana C, Orec LE, Peinhardt C, Pronicka E, Rosello M, Santos-Simarro F, Schwaibold EMC, Stegmann APA, Stumpel CT, Szczepanik E, Terczyńska I, Thevenon J, Tzschach A, Van Bogaert P, Vittorini R, Walsh S, Weckhuysen S, Weissman B, Wolfe L, Reymond A, De Nittis P, Poduri A, Olson H, Striano P, Lesca G, Scheffer IE, Møller RS, Sadleir LG. Bayat A, et al. Among authors: monfort s. Epilepsia. 2022 Apr;63(4):974-991. doi: 10.1111/epi.17173. Epub 2022 Feb 18. Epilepsia. 2022. PMID: 35179230
David E. Wildt-An Inspiring Leader in the Conservation of Wild Species.
Pukazhenthi B, Songsasen N, Brown J, Comizzoli P, Crosier A, Hagedorn M, Gratwicke B, Pitt W, Monfort S. Pukazhenthi B, et al. Among authors: monfort s. J Hered. 2020 Aug 12;111(4):414-416. doi: 10.1093/jhered/esaa013. J Hered. 2020. PMID: 32543659 No abstract available.
Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study.
Loong L, Tardivo A, Knaus A, Hashim M, Pagnamenta AT, Alt K, Böhrer-Rabel H, Caro-Llopis A, Cole T, Distelmaier F, Edery P, Ferreira CR, Jezela-Stanek A, Kerr B, Kluger G, Krawitz PM, Kuhn M, Lemke JR, Lesca G, Lynch SA, Martinez F, Maxton C, Mierzewska H, Monfort S, Nicolai J, Orellana C, Pal DK, Płoski R, Quarrell OW, Rosello M, Rydzanicz M, Sabir A, Śmigiel R, Stegmann APA, Stewart H, Stumpel C, Szczepanik E, Tzschach A, Wolfe L, Taylor JC, Murakami Y, Kinoshita T, Bayat A, Kini U. Loong L, et al. Among authors: monfort s. Genet Med. 2023 Jan;25(1):37-48. doi: 10.1016/j.gim.2022.09.007. Epub 2022 Nov 2. Genet Med. 2023. PMID: 36322149 Free article.
FAIR Island: real-world examples of place-based open science.
Robinson E, Buys M, Chodacki J, Garzas K, Monfort S, Nancarrow C, Praetzellis M, Riley B, Wimalaratne S, Davies N. Robinson E, et al. Among authors: monfort s. Gigascience. 2023 Mar 20;12:giad004. doi: 10.1093/gigascience/giad004. Gigascience. 2023. PMID: 36939006 Free PMC article.
Placebo effects in cognitive training.
Foroughi CK, Monfort SS, Paczynski M, McKnight PE, Greenwood PM. Foroughi CK, et al. Among authors: monfort ss. Proc Natl Acad Sci U S A. 2016 Jul 5;113(27):7470-4. doi: 10.1073/pnas.1601243113. Epub 2016 Jun 20. Proc Natl Acad Sci U S A. 2016. PMID: 27325761 Free PMC article.
Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature.
Hemati P, Revah-Politi A, Bassan H, Petrovski S, Bilancia CG, Ramsey K, Griffin NG, Bier L, Cho MT, Rosello M, Lynch SA, Colombo S, Weber A, Haug M, Heinzen EL, Sands TT, Narayanan V, Primiano M, Aggarwal VS, Millan F, Sattler-Holtrop SG, Caro-Llopis A, Pillar N, Baker J, Freedman R, Kroes HY, Sacharow S, Stong N, Lapunzina P, Schneider MC, Mendelsohn NJ, Singleton A, Loik Ramey V, Wou K, Kuzminsky A, Monfort S, Weiss M, Doyle S, Iglesias A, Martinez F, Mckenzie F, Orellana C, van Gassen KLI, Palomares M, Bazak L, Lee A, Bircher A, Basel-Vanagaite L, Hafström M, Houge G; C4RCD Research Group; DDD study; Goldstein DB, Anyane-Yeboa K. Hemati P, et al. Among authors: monfort s. Am J Med Genet A. 2018 Nov;176(11):2259-2275. doi: 10.1002/ajmg.a.40472. Epub 2018 Sep 8. Am J Med Genet A. 2018. PMID: 30194818 Review.
185 results