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Publications by Maria Giuseppina Miano
Mutation Analysis of the RPGR Gene Reveals Novel Mutations in South European Patients With X-Linked Retinitis Pigmentosa
European Journal of Human Genetics
Genetics
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A New 2–Base Pair Deletion in the RPGR Gene in a Black Family With X-Linked Retinitis Pigmentosa
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Rhodopsin Mutations in Chinese Patients With Retinitis Pigmentosa
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A Novel NR2E3 Gene Mutation in Autosomal Recessive Retinitis Pigmentosa With Cystic Maculopathy
Acta Ophthalmologica
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Phenotype-Genotype Correlations in X Linked Retinitis Pigmentosa.
Journal of Medical Genetics
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X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Mutation Screen of the TUB Gene in Patients With Retinitis Pigmentosa and Leber Congenital Amaurosis
Experimental Eye Research
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Novel Mutation in ABCC6 Gene in a Japanese Pedigree With Pseudoxanthoma Elasticum and Retinitis Pigmentosa
Eye
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Humanities
Severe Manifestations in Carrier Females in X Linked Retinitis Pigmentosa.
Journal of Medical Genetics
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Three Novel PHEX Gene Mutations in Japanese Patients With X-Linked Hypophosphatemic Rickets
Pediatric Research
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Pediatrics
Perinatology