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Publications by Luisa Chiapparini
Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome With Cranio-Facial and Skeletal Defects
American Journal of Human Genetics
Genetics
Progressive Myoclonus Epilepsy Caused by a Gain-Of-Function KCNA2 Mutation
Seizure : the journal of the British Epilepsy Association
Medicine
Neurology
Related publications
The Relationship Between Sonic Hedgehog Signaling, Cilia, and Neural Tube Defects
Birth Defects Research Part A - Clinical and Molecular Teratology
Child Health
Pediatrics
Perinatology
Medicine
Developmental Biology
Embryology
Skeletal and Cranio-Facial Signs in Gorlin Syndrome From Ancient Egypt to the Modern Age: Sphenoid Asymmetry in a Patient With a novelPTCH1mutation
Future Oncology
Medicine
Cancer Research
Oncology
Analysis of the Sonic Hedgehog Signaling Pathway in Normal and Abnormal Bladder Development
PLoS ONE
Multidisciplinary
P569 Dejerine-Sottas Syndrome and Cranio-Facial Dysmorphisms: A Case Report
Joubert Syndrome: A Model for Untangling Recessive Disorders With Extreme Genetic Heterogeneity
Journal of Medical Genetics
Genetics
Joubert Syndrome: A Rare Cause for Developmental Delay
Journal of Medical Science And clinical Research
The Role of the Sonic Hedgehog Pathway for Prostate Cancer Progression
Genipin Suppresses Colorectal Cancer Cells by Inhibiting the Sonic Hedgehog Pathway
Oncotarget
Oncology
Joubert Syndrome With Ocular Defect
