Tiziano Pramparo
0000-0001-6929-1027
Publication & Citation Trends
Publications
114 total
Correction to ‘Dual inhibition of the endothelin and angiotensin receptor ameliorates renal and inner ear pathologies in Alport mice’
Cited by 0
Semantic Scholar
P017: Use of cholic acid in Smith-Lemli-Opitz syndrome (SLOS): Real-world patient outcomes OA
Cited by 0
Semantic Scholar
Su1756: GENETIC INSIGHTS INTO PFIC-ASSOCIATED GENES IN UNEXPLAINED CHRONIC CHOLESTASIS AND LIVER DISEASE: FREQUENCY AND IMPLICATIONS OF VARIANT COMBINATIONS
Cited by 0
Semantic Scholar
Smith-Lemli-Opitz Syndrome: Clinical, Biochemical, and Genetic Insights With Emerging Treatment Opportunities.
Cited by 5
Semantic Scholar
P039: Neuropsychiatric symptom burden of cerebrotendinous xanthomatosis, the importance of diagnosing early, and the impact of CDCA treatment: A US-based survey OA
Cited by 0
Semantic Scholar
1086: COMPREHENSIVE ANALYSIS OF CHOLESTASIS GENETIC PANEL RESULTS FROM 2016 TO 2022 IN CHILDREN AND YOUNG ADULTS: INSIGHTS INTO DIAGNOSTIC YIELD
Cited by 0
Semantic Scholar
P004: Variant curation guideline specifications for ABCD1 from the ClinGen Peroxisomal Variant Curation Expert Panel* OA
Cited by 0
Semantic Scholar
Research Topics
Genetics and Neurodevelopmental Disorders
(41)
Autism Spectrum Disorder Research
(31)
Genomic variations and chromosomal abnormalities
(28)
Congenital heart defects research
(14)
Genomics and Rare Diseases
(12)
Affiliations
Autism Research Institute
University of California, San Francisco
University of Pavia
University of Michigan
University of California San Diego