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Melissa A Gilbert

Showing results (1-10 of 19) with videos related to

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Translational Gastroenterology and Hepatology|April 7, 2021
Alagille syndrome and non-syndromic paucity of the intrahepatic bile ductsMelissa A Gilbert, Kathleen M Loomes
Current Pathobiology Reports|December 23, 2017
Alagille syndrome: Genetics and Functional ModelsMelissa A Gilbert, Nancy B Spinner
Seminars in Liver Disease|July 2, 2021
Alagille Syndrome: A Focused Review on Clinical Features, Genetics, and TreatmentTaisa J Kohut, Melissa A Gilbert, Kathleen M Loomes
American Journal of Medical Genetics. Part A|December 28, 2020
Alagille syndrome and risk for hepatocellular carcinoma: Need for increased surveillance in adults with mild liver phenotypesEmma A Schindler, Melissa A Gilbert, David A Piccoli, et al.
American Journal of Human Genetics|July 13, 2026
Likelihood-based calibration improves the clinical utility of JAG1 functional data for variant classificationTristan J Hayeck, Christopher J Sottolano, Justin J Blair, et al.
American Journal of Medical Genetics. Part A|February 12, 2025
Clinical Characteristics of Patients With Kabuki Syndrome at a Single Tertiary Children's HospitalVictoria Dortenzio, Lidija Barbaric, Elizabeth Rosenfeld, et al.
HGG Advances|September 8, 2024
Investigation of cryptic JAG1 splice variants as a cause of Alagille syndrome and performance evaluation of splice predictor toolsErnest Keefer-Jacques, Nicolette Valente, Anastasia M Jacko, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 20, 2020
Genome sequencing increases diagnostic yield in clinically diagnosed Alagille syndrome patients with previously negative test resultsRamakrishnan Rajagopalan, Melissa A Gilbert, Deborah A McEldrew, et al.
American Journal of Medical Genetics. Part A|December 25, 2015
Compound heterozygous mutations in NEK8 in siblings with end-stage renal disease with hepatic and cardiac anomaliesRamakrishnan Rajagopalan, Christopher M Grochowski, Melissa A Gilbert, et al.
Stem Cell Research|May 4, 2024
Generation of an Alagille Syndrome (ALGS) patient-derived induced pluripotent stem cell line (TRNDi036-A) carrying a heterozygous mutation (p.Cys693*) in the JAG1 geneOmer Hatim, Miao Xu, Ivan Pavlinov, et al.
Pageof 2

Showing results (1-10 of 19) with videos related to

Sort By:
Pageof 2
Translational Gastroenterology and Hepatology|April 7, 2021
Alagille syndrome and non-syndromic paucity of the intrahepatic bile ductsMelissa A Gilbert, Kathleen M Loomes
Current Pathobiology Reports|December 23, 2017
Alagille syndrome: Genetics and Functional ModelsMelissa A Gilbert, Nancy B Spinner
Seminars in Liver Disease|July 2, 2021
Alagille Syndrome: A Focused Review on Clinical Features, Genetics, and TreatmentTaisa J Kohut, Melissa A Gilbert, Kathleen M Loomes
American Journal of Medical Genetics. Part A|December 28, 2020
Alagille syndrome and risk for hepatocellular carcinoma: Need for increased surveillance in adults with mild liver phenotypesEmma A Schindler, Melissa A Gilbert, David A Piccoli, et al.
American Journal of Human Genetics|July 13, 2026
Likelihood-based calibration improves the clinical utility of JAG1 functional data for variant classificationTristan J Hayeck, Christopher J Sottolano, Justin J Blair, et al.
American Journal of Medical Genetics. Part A|February 12, 2025
Clinical Characteristics of Patients With Kabuki Syndrome at a Single Tertiary Children's HospitalVictoria Dortenzio, Lidija Barbaric, Elizabeth Rosenfeld, et al.
HGG Advances|September 8, 2024
Investigation of cryptic JAG1 splice variants as a cause of Alagille syndrome and performance evaluation of splice predictor toolsErnest Keefer-Jacques, Nicolette Valente, Anastasia M Jacko, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 20, 2020
Genome sequencing increases diagnostic yield in clinically diagnosed Alagille syndrome patients with previously negative test resultsRamakrishnan Rajagopalan, Melissa A Gilbert, Deborah A McEldrew, et al.
American Journal of Medical Genetics. Part A|December 25, 2015
Compound heterozygous mutations in NEK8 in siblings with end-stage renal disease with hepatic and cardiac anomaliesRamakrishnan Rajagopalan, Christopher M Grochowski, Melissa A Gilbert, et al.
Stem Cell Research|May 4, 2024
Generation of an Alagille Syndrome (ALGS) patient-derived induced pluripotent stem cell line (TRNDi036-A) carrying a heterozygous mutation (p.Cys693*) in the JAG1 geneOmer Hatim, Miao Xu, Ivan Pavlinov, et al.
Pageof 2