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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2021 | 1 |
2022 | 3 |
2023 | 4 |
2024 | 0 |
Search Results
7 results
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Page 1
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing.
Hum Genomics. 2023 May 3;17(1):39. doi: 10.1186/s40246-023-00485-5.
Hum Genomics. 2023.
PMID: 37138343
Free PMC article.
The Expanding Phenotypical Spectrum of WARS2-Related Disorder: Four Novel Cases with a Common Recurrent Variant.
Pauly MG, Korenke GC, Diaw SH, Grözinger A, Cazurro-Gutiérrez A, Pérez-Dueñas B, González V, Macaya A, Serrano Antón AT, Peterlin B, Božović IB, Maver A, Münchau A, Lohmann K.
Pauly MG, et al. Among authors: cazurro gutierrez a.
Genes (Basel). 2023 Mar 29;14(4):822. doi: 10.3390/genes14040822.
Genes (Basel). 2023.
PMID: 37107582
Free PMC article.
Review.
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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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16q12.2q21 deletion: A newly recognized cause of dystonia related to GNAO1 haploinsufficiency.
Lasa-Aranzasti A, Cazurro-Gutiérrez A, Bescós A, González V, Ispierto L, Tardáguila M, Valenzuela I, Plaja A, Moreno-Galdó A, Macaya-Ruiz A, Pérez-Dueñas B.
Lasa-Aranzasti A, et al. Among authors: cazurro gutierrez a.
Parkinsonism Relat Disord. 2022 Oct;103:112-114. doi: 10.1016/j.parkreldis.2022.08.032. Epub 2022 Sep 7.
Parkinsonism Relat Disord. 2022.
PMID: 36096018
No abstract available.
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Early recognition of SGCE-myoclonus-dystonia in children.
Correa-Vela M, Carvalho J, Ferrero-Turrion J, Cazurro-Gutiérrez A, Vanegas M, Gonzalez V, Alvárez R, Marcé-Grau A, Moreno A, Macaya-Ruiz A, Pérez-Dueñas B.
Correa-Vela M, et al. Among authors: cazurro gutierrez a.
Dev Med Child Neurol. 2023 Feb;65(2):207-214. doi: 10.1111/dmcn.15298. Epub 2022 Jun 20.
Dev Med Child Neurol. 2023.
PMID: 35723607
Free article.
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Genetic diagnosis of basal ganglia disease in childhood.
Baide-Mairena H, Marti-Sánchez L, Marcé-Grau A, Cazurro-Gutiérrez A, Sanchez-Montanez A, Delgado I, Moreno-Galdó A, Macaya-Ruiz A, García-Arumí E, Pérez-Dueñas B; Childhood Basal Ganglia Disease Group.
Baide-Mairena H, et al. Among authors: cazurro gutierrez a.
Dev Med Child Neurol. 2022 Jun;64(6):743-752. doi: 10.1111/dmcn.15125. Epub 2022 Jan 5.
Dev Med Child Neurol. 2022.
PMID: 34988976
Free article.
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ε-Sarcoglycan: Unraveling the Myoclonus-Dystonia Gene.
Cazurro-Gutiérrez A, Marcé-Grau A, Correa-Vela M, Salazar A, Vanegas MI, Macaya A, Bayés À, Pérez-Dueñas B.
Cazurro-Gutiérrez A, et al.
Mol Neurobiol. 2021 Aug;58(8):3938-3952. doi: 10.1007/s12035-021-02391-0. Epub 2021 Apr 22.
Mol Neurobiol. 2021.
PMID: 33886091
Review.
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