Targeted Next-Generation Sequencing in Diagnostic Approach to Monogenic Cholestatic Liver Disorders—Single-Center Experience-Reference-Cited by-同舟云学术

Targeted Next-Generation Sequencing in Diagnostic Approach to Monogenic Cholestatic Liver Disorders—Single-Center Experience

Published:2020-07-24 Issue: Volume:8 Page:
ISSN:2296-2360
Container-title:Frontiers in Pediatrics
language:
Short-container-title:Front. Pediatr.

Author:

Lipiński Patryk,Ciara Elżbieta,Jurkiewicz Dorota,Pollak Agnieszka,Wypchło Maria,Płoski Rafał,Cielecka-Kuszyk Joanna,Socha Piotr,Pawłowska Joanna,Jankowska Irena

Publisher

Frontiers Media SA

Subject

Pediatrics, Perinatology, and Child Health

Reference25 articles.

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2. Novel genomic techniques open new avenues in the analysis of monogenic disorders;Kuhlenbäumer;Hum Mutat.,2011

3. Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders;Rabbani;J Hum Genet.,2012

4. Monogenic diseases that can be cured by liver transplantation;Fagiuoli;J Hepatol.,2013

5. Next generation sequencing in pediatric hepatology and liver transplantation;Nicastro;Liver Transpl.,2018

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4. Developmental and Inherited Liver Disease;MacSween's Pathology of the Liver;2024

5. Next-generation sequencing panel test results in pediatric patients with progressive familial intrahepatic cholestasis: a single-center experience;The European Research Journal;2023-11-04