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Two Lithuanian Cases of Classical Galactosemia with a Literature Review: A Novel GALT Gene Mutation Identified.
Medicina (Kaunas). 2020 Oct 25;56(11):559. doi: 10.3390/medicina56110559.
Medicina (Kaunas). 2020.
PMID: 33113773
Free PMC article.
Review.
A case of Fibrodysplasia Ossificans Progressiva associated with a novel variant of the ACVR1 gene.
Cappato S, Traberg R, Gintautiene J, Zara F, Bocciardi R.
Cappato S, et al. Among authors: traberg r.
Mol Genet Genomic Med. 2021 Oct;9(10):e1774. doi: 10.1002/mgg3.1774. Epub 2021 Aug 4.
Mol Genet Genomic Med. 2021.
PMID: 34347384
Free PMC article.
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Clinical, functional and genetic characterization of 16 patients suffering from chronic granulomatous disease variants - identification of 11 novel mutations in CYBB.
Mollin M, Beaumel S, Vigne B, Brault J, Roux-Buisson N, Rendu J, Barlogis V, Catho G, Dumeril C, Fouyssac F, Monnier D, Gandemer V, Revest M, Brion JP, Bost-Bru C, Jeziorski E, Eitenschenck L, Jarrasse C, Drillon Haus S, Houachée-Chardin M, Hancart M, Michel G, Bertrand Y, Plantaz D, Kelecic J, Traberg R, Kainulainen L, Fauré J, Fieschi F, Stasia MJ.
Mollin M, et al. Among authors: traberg r.
Clin Exp Immunol. 2021 Feb;203(2):247-266. doi: 10.1111/cei.13520. Epub 2020 Oct 12.
Clin Exp Immunol. 2021.
PMID: 32954498
Free PMC article.
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High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses.
Hammarsjö A, Pettersson M, Chitayat D, Handa A, Anderlid BM, Bartocci M, Basel D, Batkovskyte D, Beleza-Meireles A, Conner P, Eisfeldt J, Girisha KM, Chung BH, Horemuzova E, Hyodo H, Korņejeva L, Lagerstedt-Robinson K, Lin AE, Magnusson M, Moosa S, Nayak SS, Nilsson D, Ohashi H, Ohashi-Fukuda N, Stranneheim H, Taylan F, Traberg R, Voss U, Wirta V, Nordgren A, Nishimura G, Lindstrand A, Grigelioniene G.
Hammarsjö A, et al. Among authors: traberg r.
J Hum Genet. 2021 Oct;66(10):995-1008. doi: 10.1038/s10038-021-00925-x. Epub 2021 Apr 20.
J Hum Genet. 2021.
PMID: 33875766
Free PMC article.
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Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disorders.
Smith M, Alexander E, Marcinkute R, Dan D, Rawson M, Banka S, Gavin J, Mina H, Hennessy C, Riccardi F, Radio FC, Havlovicova M, Cassina M, Emandi AC, Fradin M, Gompertz L, Nordgren A, Traberg R, Rossi M, Trimouille A, Sowmyalakshmi R, Dallapiccola B, Renieri A, Faivre L, Kerr B, Verloes A, Clayton-Smith J, Douzgou S; ERN ITHACA.
Smith M, et al. Among authors: traberg r.
Orphanet J Rare Dis. 2020 Apr 25;15(1):103. doi: 10.1186/s13023-020-1349-1.
Orphanet J Rare Dis. 2020.
PMID: 32334637
Free PMC article.
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First case of Hajdu-Cheney syndrome in Lithuania caused by novel NOTCH2 gene likely pathogenic variant.
Tėvelytė I, Bertašius P, Aleknavičienė K, Jonikas R, Klimaitė J, Jašinskienė E, Traberg R.
Tėvelytė I, et al. Among authors: traberg r.
Eur J Med Genet. 2024 Apr 4;69:104938. doi: 10.1016/j.ejmg.2024.104938. Online ahead of print.
Eur J Med Genet. 2024.
PMID: 38580081
Free article.
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Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.
Paul MS, Duncan AR, Genetti CA, Pan H, Jackson A, Grant PE, Shi J, Pinelli M, Brunetti-Pierri N, Garza-Flores A, Shahani D, Saneto RP, Zampino G, Leoni C, Agolini E, Novelli A, Blümlein Tobias B Haack U, Heinritz W, Matzker E, Alhaddad B, Jamra RA, Bartolomaeus T, AlHamdan S, Carapito R, Isidor B, Bahram S, Ritter A, Izumi K, Shakked BP, Barel O, Ben Zeev B, Begtrup A, Carere DA, Mullegama SV, Palculict TB, Calame DG, Schwan K, Aycinena ARP, Traberg R; Genomics England Research Consortium; Douzgou S, Pirt H, Ismayilova N, Banka S, Chao HT, Agrawal PB.
Paul MS, et al. Among authors: traberg r.
Am J Hum Genet. 2023 Mar 2;110(3):548. doi: 10.1016/j.ajhg.2023.02.010.
Am J Hum Genet. 2023.
PMID: 36868207
Free PMC article.
No abstract available.
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Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.
Paul MS, Duncan AR, Genetti CA, Pan H, Jackson A, Grant PE, Shi J, Pinelli M, Brunetti-Pierri N, Garza-Flores A, Shahani D, Saneto RP, Zampino G, Leoni C, Agolini E, Novelli A, Blümlein U, Haack TB, Heinritz W, Matzker E, Alhaddad B, Abou Jamra R, Bartolomaeus T, AlHamdan S, Carapito R, Isidor B, Bahram S, Ritter A, Izumi K, Shakked BP, Barel O, Ben Zeev B, Begtrup A, Carere DA, Mullegama SV, Palculict TB, Calame DG, Schwan K, Aycinena ARP, Traberg R; Genomics England Research Consortium; Douzgou S, Pirt H, Ismayilova N, Banka S, Chao HT, Agrawal PB.
Paul MS, et al. Among authors: traberg r.
Am J Hum Genet. 2023 Jan 5;110(1):120-145. doi: 10.1016/j.ajhg.2022.11.011. Epub 2022 Dec 16.
Am J Hum Genet. 2023.
PMID: 36528028
Free PMC article.
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