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2023 | 4 |
2024 | 1 |
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Page 1
A Novel Homozygous Loss-of-Function Variant in SPRED2 Causes Autosomal Recessive Noonan-like Syndrome.
Genes (Basel). 2023 Dec 25;15(1):32. doi: 10.3390/genes15010032.
Genes (Basel). 2023.
PMID: 38254922
Free PMC article.
An atypical Aymé-Gripp phenotype detected by exome sequencing.
Caiazza M, Budillon A, Monda E, Aruta G, Esposito A, Del Vecchio Blanco F, Piluso G, Nigro V, Scarano G, Limongelli G.
Caiazza M, et al. Among authors: budillon a.
Am J Med Genet A. 2024 Jan;194(1):70-76. doi: 10.1002/ajmg.a.63406. Epub 2023 Sep 15.
Am J Med Genet A. 2024.
PMID: 37712597
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A Novel Homozygous GPAA1 Variant in a Patient with a Glycosylphosphatidylinositol Biosynthesis Defect.
Fontana P, Budillon A, Simeone D, Del Vecchio Blanco F, Caiazza M, D'Amico A, Lonardo F, Nigro V, Limongelli G, Scarano G.
Fontana P, et al. Among authors: budillon a.
Genes (Basel). 2023 Jul 14;14(7):1444. doi: 10.3390/genes14071444.
Genes (Basel). 2023.
PMID: 37510348
Free PMC article.
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Alu-Mediated Insertions in the DMD Gene: A Difficult Puzzle to Interpret Clinically.
Torella A, Budillon A, Zanobio M, Del Vecchio Blanco F, Picillo E, Politano L, Nigro V, Piluso G.
Torella A, et al. Among authors: budillon a.
Int J Mol Sci. 2023 May 25;24(11):9241. doi: 10.3390/ijms24119241.
Int J Mol Sci. 2023.
PMID: 37298193
Free PMC article.
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