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A novel de novo MTOR gain-of-function variant in a patient with Smith-Kingsmore syndrome and Antiphospholipid syndrome.
Eur J Hum Genet. 2019 Sep;27(9):1369-1378. doi: 10.1038/s41431-019-0418-1. Epub 2019 May 3.
Eur J Hum Genet. 2019.
PMID: 31053780
Free PMC article.
Mitochondrial involvement in a Bosch-Boonstra-Schaaf optic atrophy syndrome patient with a novel de novo NR2F1 gene mutation.
Martín-Hernández E, Rodríguez-García ME, Chen CA, Cotrina-Vinagre FJ, Carnicero-Rodríguez P, Bellusci M, Schaaf CP, Martínez-Azorín F.
Martín-Hernández E, et al. Among authors: carnicero rodriguez p.
J Hum Genet. 2018 Apr;63(4):525-528. doi: 10.1038/s10038-017-0398-3. Epub 2018 Feb 6.
J Hum Genet. 2018.
PMID: 29410510
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A rare male patient with Fontaine progeroid syndrome caused by p.R217H de novo mutation in SLC25A24.
Rodríguez-García ME, Cotrina-Vinagre FJ, Cruz-Rojo J, Garzón-Lorenzo L, Carnicero-Rodríguez P, Pozo JS, Martínez-Azorín F.
Rodríguez-García ME, et al. Among authors: carnicero rodriguez p.
Am J Med Genet A. 2018 Nov;176(11):2479-2486. doi: 10.1002/ajmg.a.40496. Epub 2018 Oct 17.
Am J Med Genet A. 2018.
PMID: 30329211
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A novel de novo mutation in the PURA gene associated with a new clinical finding: large brainstem.
Rodríguez-García ME, Cotrina-Vinagre FJ, Arranz-Canales E, Aragón AM, Hernández-Sánchez L, Rodríguez-Fornés F, Carnicero-Rodríguez P, Morales-Conejo M, Martín-Hernández E, Martínez-Azorín F.
Rodríguez-García ME, et al. Among authors: carnicero rodriguez p.
J Genet. 2020;99:7.
J Genet. 2020.
PMID: 32089526
Free article.
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An innovative strategy to clone positive modifier genes of defects caused by mtDNA mutations: MRPS18C as suppressor gene of m.3946G>A mutation in MT-ND1 gene.
Rodríguez-García ME, Cotrina-Vinagre FJ, Carnicero-Rodríguez P, Martínez-Azorín F.
Rodríguez-García ME, et al. Among authors: carnicero rodriguez p.
Hum Genet. 2017 Jul;136(7):885-896. doi: 10.1007/s00439-017-1812-9. Epub 2017 May 19.
Hum Genet. 2017.
PMID: 28526948
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