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Publications by Grazia Fini
Association of a Homozygous GCK Missense Mutation With Mild Diabetes
Molecular genetics & genomic medicine
Genetics
Molecular Biology
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A Homozygous Missense Mutation in SLC25A16 Is Associated With Autosomal Recessive Isolated Fingernail Dysplasia in a Pakistani Family
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Homozygous Missense Mutation inIL36RNin Generalized Pustular Dermatosis With Intraoral Involvement Compatible With Both AGEP and Generalized Pustular Psoriasis
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Phenotypic Expression of Heterozygous Lipoprotein Lipase Deficiency in the Extended Pedigree of a Proband Homozygous for a Missense Mutation.
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Unreported RSK2 Missense Mutation in Two Male Sibs With an Unusually Mild Form of Coffin-Lowry Syndrome
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Missense Mutation in the USH2A Gene: Association With Recessive Retinitis Pigmentosa Without Hearing Loss
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Association of a Missense Mutation in the Bovine Leptin Gene With Carcass Fat Content and Leptin mRNA Levels
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GNE Myopathy in Turkish Sisters With a Novel Homozygous Mutation
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A Novel Missense Mutation of COL5A2 in a Patient With Ehlers–Danlos Syndrome
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