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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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2003 | 1 |
2019 | 1 |
2020 | 1 |
2021 | 2 |
2022 | 1 |
2023 | 1 |
2024 | 1 |
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Page 1
Mapping the human genetic architecture of COVID-19.
Nature. 2021 Dec;600(7889):472-477. doi: 10.1038/s41586-021-03767-x. Epub 2021 Jul 8.
Nature. 2021.
PMID: 34237774
Free PMC article.
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
Li D, Wang Q, Bayat A, Battig MR, Zhou Y, Bosch DG, van Haaften G, Granger L, Petersen AK, Pérez-Jurado LA, Aznar-Laín G, Aneja A, Hancarova M, Bendova S, Schwarz M, Kremlikova Pourova R, Sedlacek Z, Keena BA, March ME, Hou C, O'Connor N, Bhoj EJ, Harr MH, Lemire G, Boycott KM, Towne M, Li M, Tarnopolsky M, Brady L, Parker MJ, Faghfoury H, Parsley LK, Agolini E, Dentici ML, Novelli A, Wright M, Palmquist R, Lai K, Scala M, Striano P, Iacomino M, Zara F, Cooper A, Maarup TJ, Byler M, Lebel RR, Balci TB, Louie R, Lyons M, Douglas J, Nowak C, Afenjar A, Hoyer J, Keren B, Maas SM, Motazacker MM, Martinez-Agosto JA, Rabani AM, McCormick EM, Falk MJ, Ruggiero SM, Helbig I, Møller RS, Tessarollo L, Tomassoni Ardori F, Palko ME, Hsieh TC, Krawitz PM, Ganapathi M, Gelb BD, Jobanputra V, Wilson A, Greally J, Jacquemont S, Jizi K, Bruel AL, Quelin C, Misra VK, Chick E, Romano C, Greco D, Arena A, Morleo M, Nigro V, Seyama R, Uchiyama Y, Matsumoto N, Taira R, Tashiro K, Sakai Y, Yigit G, Wollnik B, Wagner M, Kutsche B, Hurst AC, Thompson ML, Schmidt R, Randolph L, Spillmann RC, Shashi V, Higginbotham EJ, Cordeiro D, Carnevale A, Costain G, Khan T, Funalot B, Tran Mau-Them F, Fernandez Garcia …
See abstract for full author list ➔
Li D, et al.
J Clin Invest. 2024 Jan 2;134(1):e171235. doi: 10.1172/JCI171235.
J Clin Invest. 2024.
PMID: 37962958
Free PMC article.
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A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Denommé-Pichon AS, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, Bruel AL, Ciolfi A, Clayton-Smith J, Dallapiccola B, Duffourd Y, Ellwanger K, Fallerini C, Gilissen C, Graessner H, Haack TB, Havlovicova M, Hoischen A, Jean-Marçais N, Kleefstra T, López-Martín E, Macek M, Mencarelli MA, Moutton S, Pfundt R, Pizzi S, Posada M, Radio FC, Renieri A, Rooryck C, Ryba L, Safraou H, Schwarz M, Tartaglia M, Thauvin-Robinet C, Thevenon J, Tran Mau-Them F, Trimouille A, Votypka P, de Vries BBA, Willemsen MH, Zurek B, Verloes A, Philippe C; Solve-RD DITF-ITHACA; Solve-RD SNV-indel Working Group; Solve-RD Consortia; Orphanomix Group; Vitobello A, Vissers LELM, Faivre L.
Denommé-Pichon AS, et al.
Genet Med. 2023 Apr;25(4):100018. doi: 10.1016/j.gim.2023.100018. Epub 2023 Jan 20.
Genet Med. 2023.
PMID: 36681873
Free article.
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Ocular phenotype and electroretinogram abnormalities in Lafora disease and correlation with disease stage.
Orsini A, Ferrari D, Riva A, Santangelo A, Macrì A, Freri E, Canafoglia L, D'Aniello A, Di Gennaro G, Massimetti G, Minetti C, Zara F, Michelucci R, Tumber A, Vincent A, Minassian BA, Striano P.
Orsini A, et al.
J Neurol. 2022 Jul;269(7):3597-3604. doi: 10.1007/s00415-022-10974-7. Epub 2022 Feb 20.
J Neurol. 2022.
PMID: 35184210
Free PMC article.
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An evaluation of optimal tutorial methodologies for neurology teaching at undergraduate level : Optimal tutorial methods for neurology.
Togher Z, Fullam S, Callanan I, Kearney H, Tubridy N.
Togher Z, et al.
Ir J Med Sci. 2021 Aug;190(3):965-969. doi: 10.1007/s11845-020-02411-3. Epub 2020 Oct 19.
Ir J Med Sci. 2021.
PMID: 33078263
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Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.
Corbett MA, Kroes T, Veneziano L, Bennett MF, Florian R, Schneider AL, Coppola A, Licchetta L, Franceschetti S, Suppa A, Wenger A, Mei D, Pendziwiat M, Kaya S, Delledonne M, Straussberg R, Xumerle L, Regan B, Crompton D, van Rootselaar AF, Correll A, Catford R, Bisulli F, Chakraborty S, Baldassari S, Tinuper P, Barton K, Carswell S, Smith M, Berardelli A, Carroll R, Gardner A, Friend KL, Blatt I, Iacomino M, Di Bonaventura C, Striano S, Buratti J, Keren B, Nava C, Forlani S, Rudolf G, Hirsch E, Leguern E, Labauge P, Balestrini S, Sander JW, Afawi Z, Helbig I, Ishiura H, Tsuji S, Sisodiya SM, Casari G, Sadleir LG, van Coller R, Tijssen MAJ, Klein KM, van den Maagdenberg AMJM, Zara F, Guerrini R, Berkovic SF, Pippucci T, Canafoglia L, Bahlo M, Striano P, Scheffer IE, Brancati F, Depienne C, Gecz J.
Corbett MA, et al.
Nat Commun. 2019 Oct 29;10(1):4920. doi: 10.1038/s41467-019-12671-y.
Nat Commun. 2019.
PMID: 31664034
Free PMC article.
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Absence of mutations in major GEFS+ genes in myoclonic astatic epilepsy.
Nabbout R, Kozlovski A, Gennaro E, Bahi-Buisson N, Zara F, Chiron C, Bianchi A, Brice A, Leguern E, Dulac O.
Nabbout R, et al.
Epilepsy Res. 2003 Oct;56(2-3):127-33. doi: 10.1016/j.eplepsyres.2003.08.007.
Epilepsy Res. 2003.
PMID: 14642997
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