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Publications by E. Fazzi
Mutation Analysis of NPHP6/CEP290 in Patients With Joubert Syndrome and Senior Loken Syndrome
Journal of Medical Genetics
Genetics
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Joubert Syndrome With Ocular Defect
Joubert Syndrome 2 (JBTS2) in Ashkenazi Jews Is Associated With a TMEM216 Mutation
American Journal of Human Genetics
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Mutation Analysis of UBE3A in Angelman Syndrome Patients
American Journal of Human Genetics
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Analysis of SCN1A Mutation and Parental Origin in Patients With Dravet Syndrome
Journal of Human Genetics
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KIAA0586is Mutated in Joubert Syndrome
Human Mutation
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Diffusion Tensor Imaging in Joubert Syndrome
American Journal of Neuroradiology
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Nuclear Medicine
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‘Molar Tooth’ Sign in Joubert Syndrome
Pediatric Radiology
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Analysis of Human Samples Reveals Impaired SHH-dependent Cerebellar Development in Joubert Syndrome/Meckel Syndrome
Proceedings of the National Academy of Sciences of the United States of America
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Noonan Syndrome: Comparing Mutation-Positive With Mutation-Negative Dutch Patients
Molecular Syndromology
Genetics
