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Publications by Greta Gorelli
A Founder Effect for the HGD G360R Mutation in Italy: Implications for a Regional Screening of Alkaptonuria
JIMD Reports
Internal Medicine
Genetics
Molecular Biology
Biochemistry
Endocrinology
Metabolism
Diabetes
Related publications
A Founder Mutation inMYO7AUnderlies a Significant Proportion of Usher Syndrome in Indigenous South Africans: Implications for the African Diaspora
Investigative Ophthalmology and Visual Science
Molecular Neuroscience
Ophthalmology
Sensory Systems
Cellular
Preconception Carrier Screening for Multiple Disorders: Evaluation of a Screening Offer in a Dutch Founder Population
European Journal of Human Genetics
Genetics
Growth Hormone Insensitivity With Immune Dysfunction Caused by a STAT5B Mutation in the South of Brazil: Evidence for a Founder Effect
Genetics and Molecular Biology
Genetics
Molecular Biology
A Common Founder for the 35delG GJB2 Gene Mutation in Connexin 26 Hearing Impairment
Journal of Medical Genetics
Genetics
Mutations in COL27A1 Cause Steel Syndrome and Suggest a Founder Mutation Effect in the Puerto Rican Population
European Journal of Human Genetics
Genetics
A Role for Interleukins in the Rapid Progression of Osteoarthritis in Alkaptonuria
Osteoarthritis and Cartilage
Sports Medicine
Rheumatology
Orthopedics
Biomedical Engineering
Screening for the GRA Mutation in Jamaica
Journal of Human Hypertension
Internal Medicine
The 752delG26 Mutation in the RFXANK Gene Associated With Major Histocompatibility Complex Class II Deficiency: Evidence for a Founder Effect in the Moroccan Population
BMC Proceedings
Biochemistry
Medicine
Genetics
Molecular Biology
A Report of a National Mutation Testing Service for the MEN1 Gene: Clinical Presentations and Implications for Mutation Testing
Journal of Medical Genetics
Genetics
