Saul J. Karpen, M.D., Ph.D. How do I interpret genetic test results?
MCL - Targeted Genes and Methodology Details for Congenital Disorders of Glycosylation Gene Panel - MC4091-147
Panel‐Based Next‐Generation Sequencing for the Diagnosis of Cholestatic Genetic Liver Diseases: Clinical Utility and Challenges | Semantic Scholar
Progressive Familial Intrahepatic Cholestasis | IntechOpen
Online Aspen Webinar (Part 1) | gutsandgrowth
A Specially Designed Multi-Gene Panel Facilitates Genetic Diagnosis in Children with Intrahepatic Cholestasis: Simultaneous Test of Known Large Insertions/Deletions | PLOS ONE
Neonatal cholestasis: emerging molecular diagnostics and potential novel therapeutics | Nature Reviews Gastroenterology & Hepatology
A ZFYVE19 gene mutation associated with neonatal cholestasis and cilia dysfunction: case report with a novel pathogenic variant | Orphanet Journal of Rare Diseases | Full Text
Molecular Pathogenesis of Cholestasis | NEJM
Cholestasis Genetic Panel: Program Overview
Cholestatic Diseases
Travere Therapeutics Cholestasis Sponsored Testing - PreventionGenetics
Testing in patients with BASD | CHOLBAM® for HCPs
PreventionGenetics
Neonatal Cholestasis for Neonatologists - ppt download
Genetic forms of intrahepatic cholestasis or hyperbilirubinaemia | Download Table
Panel-Based Next-Generation Sequencing for the Diagnosis of Cholestatic Genetic Liver Diseases: Clinical Utility and Challenges - ScienceDirect
An Approach to the Cholestatic Infant | Liver Fellow Network
A Review of Intrahepatic Cholestasis of Pregnancy | Bentham Science
A Specially Designed Multi-Gene Panel Facilitates Genetic Diagnosis in Children with Intrahepatic Cholestasis: Simultaneous Test of Known Large Insertions/Deletions | PLOS ONE
Pediatric Cholestatic Jaundice: Differential Diagnosis of Treatable Disorders (Transcript)
Cholestatic liver diseases of genetic etiology: Advances and controversies - Ibrahim - 2022 - Hepatology - Wiley Online Library
Panel-Based Next-Generation Sequencing for the Diagnosis of Cholestatic Genetic Liver Diseases: Clinical Utility and Challenges
Genetic Cholestatic Disorders | SpringerLink
Online Aspen Webinar (Part 1) | gutsandgrowth
