MediFind found 1910 doctor with experience in Joubert Syndrome. Of these, 1619 are Experienced, 243 are Advanced, 33 are Distinguished and 14 are Elite.
Sabrina Signorini practices in Pavia, Italy. Ms. Signorini is rated as an Elite expert by MediFind in the treatment of Joubert Syndrome. Her top areas of expertise are Joubert Syndrome, Septo-Optic Dysplasia, Spinocerebellar Ataxia Type 15, and Late-Onset Retinal Degeneration.
Ruxandra Bachmann-Gagescu is a Medical Genetics specialist and a Pediatrics provider in Seattle, Washington. Dr. Bachmann-Gagescu is rated as an Elite provider by MediFind in the treatment of Joubert Syndrome. Her top areas of expertise are Joubert Syndrome, Microcephaly, Achalasia Microcephaly Syndrome, and Polydactyly.
Enza Valente practices in Pavia, Italy. Ms. Valente is rated as an Elite expert by MediFind in the treatment of Joubert Syndrome. Her top areas of expertise are Joubert Syndrome, Primary Ciliary Dyskinesia (PCD), Orofaciodigital Syndrome 6, Oral-Facial-Digital Syndrome, and Deep Brain Stimulation.
Giulio Ruberto practices in Pavia, Italy. Mr. Ruberto is rated as an Elite expert by MediFind in the treatment of Joubert Syndrome. His top areas of expertise are Joubert Syndrome, Late-Onset Retinal Degeneration, Ocular Albinism, Ganglion Cyst, and Vitrectomy.
Valentina Serpieri practices in Pavia, Italy. Ms. Serpieri is rated as an Elite expert by MediFind in the treatment of Joubert Syndrome. Her top areas of expertise are Joubert Syndrome, Spinocerebellar Ataxia Type 15, Glucose Phosphate Isomerase Deficiency, and Spinocerebellar Ataxia Type 29.
William Gahl is a Medical Genetics specialist and a Pediatrics provider in Bethesda, Maryland. Dr. Gahl is rated as an Elite provider by MediFind in the treatment of Joubert Syndrome. His top areas of expertise are Oculocutaneous Albinism Type 2, Hermansky-Pudlak Syndrome, Oculocutaneous Albinism Type 1, Oculocutaneous Albinism, and Deep Brain Stimulation.
John Sayer practices in Newcastle Upon Tyne, United Kingdom. Mr. Sayer is rated as an Elite expert by MediFind in the treatment of Joubert Syndrome. His top areas of expertise are Joubert Syndrome, Nephronophthisis, Nephrocalcinosis, Lithotripsy, and Kidney Transplant.
Chiara Bertone practices in Pavia, Italy. Ms. Bertone is rated as an Elite expert by MediFind in the treatment of Joubert Syndrome. Her top areas of expertise are Joubert Syndrome, Retinopathy of Prematurity, Premature Infant, and Late-Onset Retinal Degeneration.
Marta Romani practices in Rome, Italy. Ms. Romani is rated as an Elite expert by MediFind in the treatment of Joubert Syndrome. Her top areas of expertise are Joubert Syndrome, Orofaciodigital Syndrome 6, Primary Ciliary Dyskinesia (PCD), and Oral-Facial-Digital Syndrome.
Fulvio D'abrusco practices in Pavia, Italy. Mr. D'abrusco is rated as an Elite expert by MediFind in the treatment of Joubert Syndrome. His top areas of expertise are Joubert Syndrome, Spinocerebellar Ataxia Type 15, Primary Ciliary Dyskinesia (PCD), and Spinocerebellar Ataxia Type 29.
Eugen Boltshauser practices in Zurich, Switzerland. Mr. Boltshauser is rated as an Elite expert by MediFind in the treatment of Joubert Syndrome. His top areas of expertise are Joubert Syndrome, Oculomotor Apraxia Cogan Type, Cerebellar Hypoplasia, and Dandy-Walker Syndrome.
Colin Miles practices in Newcastle Upon Tyne, United Kingdom. Mr. Miles is rated as an Elite expert by MediFind in the treatment of Joubert Syndrome. His top areas of expertise are Joubert Syndrome, Nephronophthisis, Congenital Hepatic Fibrosis, and Meckel Syndrome.
Ian Glass is a Medical Genetics provider in Seattle, Washington. Dr. Glass is rated as an Elite provider by MediFind in the treatment of Joubert Syndrome. His top areas of expertise are Joubert Syndrome, Hypotonia, Dandy-Walker Syndrome, and Cortical Dysplasia. Dr. Glass is currently accepting new patients.
Roberta Battini practices in Pisa, Italy. Ms. Battini is rated as an Elite expert by MediFind in the treatment of Joubert Syndrome. Her top areas of expertise are Joubert Syndrome, KBG Syndrome, Becker Muscular Dystrophy, and Duchenne Muscular Dystrophy.
Atrium Health Levine Children's Neurology Concord
Adeel Yousaf is a Neurologist in Concord, North Carolina. Dr. Yousaf is rated as an Experienced provider by MediFind in the treatment of Joubert Syndrome. His top areas of expertise are Neurofibromatosis, Neurofibromatosis Type 1 (NF1), Seizures, and Genetic Epilepsy with Febrile Seizures Plus (GEFS+). Dr. Yousaf is currently accepting new patients.
Stefano D'arrigo practices in Milan, Italy. Mr. D'arrigo is rated as a Distinguished expert by MediFind in the treatment of Joubert Syndrome. His top areas of expertise are Joubert Syndrome, Cerebellar Hypoplasia, Orofaciodigital Syndrome 6, and Potocki-Lupski Syndrome.
Luis Bello-Espinosa is a Pediatric Neurologist and a Neurologist in Orlando, Florida. Dr. Bello-Espinosa is rated as an Experienced provider by MediFind in the treatment of Joubert Syndrome. His top areas of expertise are Epilepsy, Seizures, West Syndrome, and Epilepsy Juvenile Absence. Dr. Bello-Espinosa is currently accepting new patients.
Spectrum Health Hospitals
Paul Mark is a Medical Genetics specialist and an Obstetrics and Gynecologist in Grand Rapids, Michigan. Dr. Mark is rated as an Experienced provider by MediFind in the treatment of Joubert Syndrome. His top areas of expertise are VACTERL Association, Peters Plus Syndrome, Hypotonia, and Chromosome 21q Deletion. Dr. Mark is currently accepting new patients.
Murtuza Kothawala is a Pediatric Neurologist and a Neurologist in Orlando, Florida. Dr. Kothawala is rated as an Experienced provider by MediFind in the treatment of Joubert Syndrome. His top areas of expertise are Seizures, Partial Familial Epilepsy, Memory Loss, and Lafora Disease. Dr. Kothawala is currently accepting new patients.
Jessica Goldstein is a Pediatric Neurologist and a Neurologist in Minneapolis, Minnesota. Dr. Goldstein is rated as an Experienced provider by MediFind in the treatment of Joubert Syndrome. Her top areas of expertise are Seizures, Epilepsy Juvenile Absence, Generalized Tonic-Clonic Seizure, and GAPO Syndrome. Dr. Goldstein is currently accepting new patients.
Last Updated: 10/30/2025