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Page 1
Intellectual disability genomics: current state, pitfalls and future challenges.
BMC Genomics. 2021 Dec 20;22(1):909. doi: 10.1186/s12864-021-08227-4.
BMC Genomics. 2021.
PMID: 34930158
Free PMC article.
Review.
Can the Synergic Contribution of Multigenic Variants Explain the Clinical and Cellular Phenotypes of a Neurodevelopmental Disorder?
Maia N, Nabais Sá MJ, Oliveira C, Santos F, Soares CA, Prior C, Tkachenko N, Santos R, de Brouwer APM, Jacome A, Porto B, Jorge P.
Maia N, et al. Among authors: nabais sa mj.
Genes (Basel). 2021 Dec 28;13(1):78. doi: 10.3390/genes13010078.
Genes (Basel). 2021.
PMID: 35052418
Free PMC article.
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Correction: A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2.
Rodríguez-García ME, Cotrina-Vinagre FJ, Olson AN, Sánchez-Calvin MT, de Aragón AM, de Las Heras RS, Dinman JD, de Vries BBA, Nabais Sá MJ, Quijada-Fraile P, Martínez-Azorín F.
Rodríguez-García ME, et al. Among authors: nabais sa mj.
J Hum Genet. 2023 Aug;68(8):577. doi: 10.1038/s10038-023-01164-y.
J Hum Genet. 2023.
PMID: 37237142
No abstract available.
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Infantile Refsum Disease: Influence of Dietary Treatment on Plasma Phytanic Acid Levels.
Sá MJ, Rocha JC, Almeida MF, Carmona C, Martins E, Miranda V, Coutinho M, Ferreira R, Pacheco S, Laranjeira F, Ribeiro I, Fortuna AM, Lacerda L.
Sá MJ, et al.
JIMD Rep. 2016;26:53-60. doi: 10.1007/8904_2015_487. Epub 2015 Aug 25.
JIMD Rep. 2016.
PMID: 26303611
Free PMC article.
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Deletion of the 5'exons of COL4A6 is not needed for the development of diffuse leiomyomatosis in patients with Alport syndrome.
Sá MJ, Fieremans N, de Brouwer AP, Sousa R, e Costa FT, Brito MJ, Carvalho F, Rodrigues M, de Sousa FT, Felgueiras J, Neves F, Carvalho A, Ramos U, Vizcaíno JR, Alves S, Carvalho F, Froyen G, Oliveira JP.
Sá MJ, et al.
J Med Genet. 2013 Nov;50(11):745-53. doi: 10.1136/jmedgenet-2013-101670. Epub 2013 Aug 19.
J Med Genet. 2013.
PMID: 23958657
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A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2.
Rodríguez-García ME, Cotrina-Vinagre FJ, Olson AN, Sánchez-Calvin MT, de Aragón AM, de Las Heras RS, Dinman JD, de Vries BBA, Nabais Sá MJ, Quijada-Fraile P, Martínez-Azorín F.
Rodríguez-García ME, et al. Among authors: nabais sa mj.
J Hum Genet. 2023 Aug;68(8):543-550. doi: 10.1038/s10038-023-01150-4. Epub 2023 Apr 18.
J Hum Genet. 2023.
PMID: 37072624
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