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Year | Number of Results |
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2017 | 1 |
2021 | 2 |
2022 | 1 |
2023 | 3 |
2024 | 0 |
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Page 1
Communicating a Positive Result at Newborn Screening and Parental Distress.
Int J Neonatal Screen. 2023 Jul 14;9(3):38. doi: 10.3390/ijns9030038.
Int J Neonatal Screen. 2023.
PMID: 37489491
Free PMC article.
Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases.
Ardissone A, Bruno C, Diodato D, Donati A, Ghezzi D, Lamantea E, Lamperti C, Mancuso M, Martinelli D, Primiano G, Procopio E, Rubegni A, Santorelli F, Schiaffino MC, Servidei S, Tubili F, Bertini E, Moroni I.
Ardissone A, et al. Among authors: tubili f.
Orphanet J Rare Dis. 2021 Oct 9;16(1):413. doi: 10.1186/s13023-021-02029-3.
Orphanet J Rare Dis. 2021.
PMID: 34627336
Free PMC article.
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Management of methylmalonic acidemia (MMA) with N-carbamylglutamate: A case report from Italy.
Tubili F, Pochiero F, Curcio MR, Procopio E.
Tubili F, et al.
Mol Genet Genomic Med. 2023 Jan;11(1):e2073. doi: 10.1002/mgg3.2073. Epub 2022 Nov 4.
Mol Genet Genomic Med. 2023.
PMID: 36331064
Free PMC article.
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A novel SLC5A6 homozygous variant in a family with multivitamin-dependent neurometabolic disorder: Phenotype expansion and long-term follow-up.
Montomoli M, Vetro A, Tubili F, Donati MA, Daniotti M, Pochiero F, Rivieri F, Girlando S, Guerrini R.
Montomoli M, et al. Among authors: tubili f.
Eur J Med Genet. 2023 Aug;66(8):104808. doi: 10.1016/j.ejmg.2023.104808. Epub 2023 Jun 28.
Eur J Med Genet. 2023.
PMID: 37391029
Free article.
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Movement Disorders in Children with a Mitochondrial Disease: A Cross-Sectional Survey from the Nationwide Italian Collaborative Network of Mitochondrial Diseases.
Ticci C, Orsucci D, Ardissone A, Bello L, Bertini E, Bonato I, Bruno C, Carelli V, Diodato D, Doccini S, Donati MA, Dosi C, Filosto M, Fiorillo C, La Morgia C, Lamperti C, Marchet S, Martinelli D, Minetti C, Moggio M, Mongini TE, Montano V, Moroni I, Musumeci O, Pancheri E, Pegoraro E, Primiano G, Procopio E, Rubegni A, Scalise R, Sciacco M, Servidei S, Siciliano G, Simoncini C, Tolomeo D, Tonin P, Toscano A, Tubili F, Mancuso M, Battini R, Santorelli FM.
Ticci C, et al. Among authors: tubili f.
J Clin Med. 2021 May 12;10(10):2063. doi: 10.3390/jcm10102063.
J Clin Med. 2021.
PMID: 34065803
Free PMC article.
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Incidence of Sudden Unexpected Postnatal Collapse in the Therapeutic Hypothermia Era.
Filippi L, Laudani E, Tubili F, Calvani M, Bartolini I, Donzelli G.
Filippi L, et al. Among authors: tubili f.
Am J Perinatol. 2017 Nov;34(13):1362-1367. doi: 10.1055/s-0037-1603678. Epub 2017 Jun 1.
Am J Perinatol. 2017.
PMID: 28571078
No abstract available.
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