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OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum.
J Med Genet. 2023 Jun;60(6):620-626. doi: 10.1136/jmg-2022-108678. Epub 2022 Nov 11.
J Med Genet. 2023.
PMID: 36368868
Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures.
Thierry G, Bénéteau C, Pichon O, Flori E, Isidor B, Popelard F, Delrue MA, Duboscq-Bidot L, Thuresson AC, van Bon BW, Cailley D, Rooryck C, Paubel A, Metay C, Dusser A, Pasquier L, Béri M, Bonnet C, Jaillard S, Dubourg C, Tou B, Quéré MP, Soussi-Zander C, Toutain A, Lacombe D, Arveiler B, de Vries BB, Jonveaux P, David A, Le Caignec C.
Thierry G, et al. Among authors: soussi zander c.
Am J Med Genet A. 2012 Jul;158A(7):1633-40. doi: 10.1002/ajmg.a.35423. Epub 2012 Jun 7.
Am J Med Genet A. 2012.
PMID: 22678713
Free article.
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Whole gene duplication of SCN2A and SCN3A is associated with neonatal seizures and a normal intellectual development.
Thuresson AC, Van Buggenhout G, Sheth F, Kamate M, Andrieux J, Clayton Smith J, Soussi Zander C.
Thuresson AC, et al. Among authors: soussi zander c.
Clin Genet. 2017 Jan;91(1):106-110. doi: 10.1111/cge.12797. Epub 2016 Jun 2.
Clin Genet. 2017.
PMID: 27153334
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Mutations in HECW2 are associated with intellectual disability and epilepsy.
Halvardson J, Zhao JJ, Zaghlool A, Wentzel C, Georgii-Hemming P, Månsson E, Ederth Sävmarker H, Brandberg G, Soussi Zander C, Thuresson AC, Feuk L.
Halvardson J, et al. Among authors: soussi zander c.
J Med Genet. 2016 Oct;53(10):697-704. doi: 10.1136/jmedgenet-2016-103814. Epub 2016 Jun 22.
J Med Genet. 2016.
PMID: 27334371
Free PMC article.
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Whole genome sequencing of consanguineous families reveals novel pathogenic variants in intellectual disability.
Thuresson AC, Soussi Zander C, Zhao JJ, Halvardson J, Maqbool K, Månsson E, Stenninger E, Holmlund U, Öhrner Y, Feuk L.
Thuresson AC, et al. Among authors: soussi zander c.
Clin Genet. 2019 Mar;95(3):436-439. doi: 10.1111/cge.13470. Epub 2018 Dec 7.
Clin Genet. 2019.
PMID: 30525197
Free PMC article.
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Novel PNKP mutations associated with reduced DNA single-strand break repair and severe microcephaly, seizures, and developmental delay.
Thuresson AC, Brazina J, Akram T, Albrecht J, Dahl N, Soussi Zander C, Caldecott KW.
Thuresson AC, et al. Among authors: soussi zander c.
Mol Genet Genomic Med. 2024 Jan;12(1):e2295. doi: 10.1002/mgg3.2295. Epub 2023 Nov 2.
Mol Genet Genomic Med. 2024.
PMID: 37916443
Free PMC article.
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Beckwith-Wiedemann Syndrome Revisited.
Soussi-Zander C.
Soussi-Zander C.
Hum Mutat. 2015 Sep;36(9):iii. doi: 10.1002/humu.22662.
Hum Mutat. 2015.
PMID: 26270560
No abstract available.
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