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Page 1
Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants.
medRxiv [Preprint]. 2023 May 26:2023.05.18.23290169. doi: 10.1101/2023.05.18.23290169.
medRxiv. 2023.
PMID: 37292616
Free PMC article.
Updated.
Preprint.
Identification of a Novel FOXP1 Variant in a Patient with Hypotonia, Intellectual Disability, and Severe Speech Impairment.
Benvenuto M, Palumbo P, Di Muro E, Perrotta CS, Mazza T, Mandarà GML, Palumbo O, Carella M.
Benvenuto M, et al. Among authors: mandara gml.
Genes (Basel). 2023 Oct 18;14(10):1958. doi: 10.3390/genes14101958.
Genes (Basel). 2023.
PMID: 37895307
Free PMC article.
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A new variant of phosphoglycerate kinase deficiency (p.I371K) with multiple tissue involvement: molecular and functional characterization.
Fermo E, Bianchi P, Chiarelli LR, Maggi M, Mandarà GM, Vercellati C, Marcello AP, Barcellini W, Cortelezzi A, Valentini G, Zanella A.
Fermo E, et al. Among authors: mandara gm.
Mol Genet Metab. 2012 Aug;106(4):455-61. doi: 10.1016/j.ymgme.2012.05.015. Epub 2012 May 30.
Mol Genet Metab. 2012.
PMID: 22705348
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Hyporesponsiveness to intradermal administration of hepatitis B vaccine in insulin dependent diabetes mellitus.
Li Volti S, Caruso-Nicoletti M, Biazzo F, Sciacca A, Mandarà G, Mancuso M, Mollica F.
Li Volti S, et al. Among authors: mandara g.
Arch Dis Child. 1998 Jan;78(1):54-7. doi: 10.1136/adc.78.1.54.
Arch Dis Child. 1998.
PMID: 9534677
Free PMC article.
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