Silva S - Search Results

1

COG1-congenital disorders of glycosylation: Milder presentation and review.

Salazar M, Miyake N, Silva S, Solar B, Papazoglu GM, Asteggiano CG, Matsumoto N. Salazar M, et al. Among authors: silva s. Clin Genet. 2021 Sep;100(3):318-323. doi: 10.1111/cge.13980. Epub 2021 May 13. Clin Genet. 2021. PMID: 33960418 Review.

2

The second point mutation in PREPL: a case report and literature review.

Silva S, Miyake N, Tapia C, Matsumoto N. Silva S, et al. J Hum Genet. 2018 May;63(5):677-681. doi: 10.1038/s10038-018-0426-y. Epub 2018 Feb 26. J Hum Genet. 2018. PMID: 29483676 Review.

3

SOFT syndrome in a patient from Chile.

Saida K, Silva S, Solar B, Fujita A, Hamanaka K, Mitsuhashi S, Koshimizu E, Mizuguchi T, Miyatake S, Takata A, Miyake N, Matsumoto N. Saida K, et al. Among authors: silva s. Am J Med Genet A. 2019 Mar;179(3):338-340. doi: 10.1002/ajmg.a.61015. Epub 2018 Dec 20. Am J Med Genet A. 2019. PMID: 30569574

4

A novel ITPA variant causes epileptic encephalopathy with multiple-organ dysfunction.

Sakamoto M, Kouhei D, Haniffa M, Silva S, Troncoso M, Santander P, Schonstedt V, Stecher X, Okamoto N, Hamanaka K, Mizuguchi T, Mitsuhashi S, Miyake N, Matsumoto N. Sakamoto M, et al. Among authors: silva s. J Hum Genet. 2020 Sep;65(9):751-757. doi: 10.1038/s10038-020-0765-3. Epub 2020 May 14. J Hum Genet. 2020. PMID: 32405030

5

A homozygous ABHD16A variant causes a complex hereditary spastic paraplegia with developmental delay, absent speech, and characteristic face.

Miyake N, Silva S, Troncoso M, Okamoto N, Andachi Y, Kato M, Iwabuchi C, Hirose M, Fujita A, Uchiyama Y, Matsumoto N. Miyake N, et al. Among authors: silva s. Clin Genet. 2022 Mar;101(3):359-363. doi: 10.1111/cge.14097. Epub 2021 Dec 13. Clin Genet. 2022. PMID: 34866177

6

Human phenotype caused by biallelic KDM4B frameshift variant.

Takada S, Silva S, Zamorano I, Pérez A, Iwabuchi C, Miyake N. Takada S, et al. Among authors: silva s. Clin Genet. 2024 Jan;105(1):72-76. doi: 10.1111/cge.14409. Epub 2023 Aug 1. Clin Genet. 2024. PMID: 37526414

7

Adolescent-onset epilepsy and deterioration associated with CAD deficiency: A case report.

Silva S, Rosas M, Guerra B, Muñoz M, Fujita A, Sakamoto M, Matsumoto N. Silva S, et al. Brain Dev. 2024 Apr 18:S0387-7604(24)00057-3. doi: 10.1016/j.braindev.2024.04.001. Online ahead of print. Brain Dev. 2024. PMID: 38641466

8

Childhood-only epilepsy with generalized tonic-clonic seizures: A well-defined epileptic syndrome.

Caraballo R, Silva S, Beltran L, Calvo A, Caballero R. Caraballo R, et al. Among authors: silva s. Epilepsy Res. 2019 Jul;153:28-33. doi: 10.1016/j.eplepsyres.2019.03.017. Epub 2019 Mar 27. Epilepsy Res. 2019. PMID: 30947078

9

Lesch-Nyhan disease in two families from Chiloé Island with mutations in the HPRT1 gene.

Nguyen KV, Silva S, Troncoso M, Naviaux RK, Nyhan WL. Nguyen KV, et al. Among authors: silva s. Nucleosides Nucleotides Nucleic Acids. 2017 Jul 3;36(7):452-462. doi: 10.1080/15257770.2017.1315434. Epub 2017 May 19. Nucleosides Nucleotides Nucleic Acids. 2017. PMID: 28524722

10

FlexStat: combinatory differentially expressed protein extraction.

De Silva S, Alli-Shaik A, Gunaratne J. De Silva S, et al. Bioinform Adv. 2024 Apr 11;4(1):vbae056. doi: 10.1093/bioadv/vbae056. eCollection 2024. Bioinform Adv. 2024. PMID: 38681522 Free PMC article.

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