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Publications by Isabella Torrente

Mutation Analysis of the RPGR Gene Reveals Novel Mutations in South European Patients With X-Linked Retinitis Pigmentosa

European Journal of Human Genetics
Genetics
1999English

A Single-Nucleotide Polymorphism in the Human Bone Morphogenetic Protein-4 ( BMP 4 ) Gene

Journal of Human Genetics
Genetics
1999English

Related publications

A New 2–Base Pair Deletion in the RPGR Gene in a Black Family With X-Linked Retinitis Pigmentosa

Archives of Ophthalmology
1998English

Rhodopsin Mutations in Chinese Patients With Retinitis Pigmentosa

British Journal of Ophthalmology
Molecular NeuroscienceOphthalmologySensory SystemsCellular
2001English

A Novel NR2E3 Gene Mutation in Autosomal Recessive Retinitis Pigmentosa With Cystic Maculopathy

Acta Ophthalmologica
MedicineOphthalmology
2017English

Phenotype-Genotype Correlations in X Linked Retinitis Pigmentosa.

Journal of Medical Genetics
Genetics
1992English

X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome

2020English

Mutation Screen of the TUB Gene in Patients With Retinitis Pigmentosa and Leber Congenital Amaurosis

Experimental Eye Research
Molecular NeuroscienceOphthalmologySensory SystemsCellular
2006English

Novel Mutation in ABCC6 Gene in a Japanese Pedigree With Pseudoxanthoma Elasticum and Retinitis Pigmentosa

Eye
MedicineArtsSensory SystemsOphthalmologyHumanities
2004English

Severe Manifestations in Carrier Females in X Linked Retinitis Pigmentosa.

Journal of Medical Genetics
Genetics
1997English

Three Novel PHEX Gene Mutations in Japanese Patients With X-Linked Hypophosphatemic Rickets

Pediatric Research
Child HealthPediatricsPerinatology
2000English

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