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American Journal of Human Genetics
|
June 18, 2019
RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities
Margot A Cousin, Erin Conboy, Jian-She Wang, et al.
Molecular Genetics and Metabolism
|
January 20, 2024
Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease
Nicole Hammann, Dominic Lenz, Ivo Baric, et al.
Liver International : Official Journal of the International Association for the Study of the Liver
|
May 28, 2025
Hepatic Phenotype in NBAS-Associated Disease: Clinical Course, Prognostic Factors and Outcome in 230 Patients
Bianca Peters, Lea Dewi Schlieben, Heiko Brennenstuhl, et al.
Journal of Pediatric Gastroenterology and Nutrition
|
July 7, 2025
Paediatric acute liver failure: A prospective, nationwide, population-based surveillance study in Germany
Dominic Lenz, Muhammad Abdulaziz, Bianca Peters, et al.
Brain Communications
|
May 17, 2024
Deoxyguanosine kinase deficiency: natural history and liver transplant outcome
Eleonora Manzoni, Sara Carli, Pauline Gaignard, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 24, 2020
Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1
Dominic Lenz, Desirée E C Smith, Ellen Crushell, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 4, 2023
De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke
Theresa Brunet, Benedikt Zott, Victoria Lieftüchter, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 26, 2019
Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients
Christian Staufner, Bianca Peters, Matias Wagner, et al.
Genome Medicine
|
April 5, 2022
Clinical implementation of RNA sequencing for Mendelian disease diagnostics
Vicente A Yépez, Mirjana Gusic, Robert Kopajtich, et al.
The Journal of Allergy and Clinical Immunology
|
April 19, 2021
Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency
Stefano Vavassori, Janet Chou, Laura Eva Faletti, et al.
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Search research articles
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Showing results (41-50 of 55) with videos related to
Sort By:
Page
of 6
American Journal of Human Genetics
|
June 18, 2019
RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities
Margot A Cousin, Erin Conboy, Jian-She Wang, et al.
Molecular Genetics and Metabolism
|
January 20, 2024
Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease
Nicole Hammann, Dominic Lenz, Ivo Baric, et al.
Liver International : Official Journal of the International Association for the Study of the Liver
|
May 28, 2025
Hepatic Phenotype in NBAS-Associated Disease: Clinical Course, Prognostic Factors and Outcome in 230 Patients
Bianca Peters, Lea Dewi Schlieben, Heiko Brennenstuhl, et al.
Journal of Pediatric Gastroenterology and Nutrition
|
July 7, 2025
Paediatric acute liver failure: A prospective, nationwide, population-based surveillance study in Germany
Dominic Lenz, Muhammad Abdulaziz, Bianca Peters, et al.
Brain Communications
|
May 17, 2024
Deoxyguanosine kinase deficiency: natural history and liver transplant outcome
Eleonora Manzoni, Sara Carli, Pauline Gaignard, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 24, 2020
Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1
Dominic Lenz, Desirée E C Smith, Ellen Crushell, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 4, 2023
De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke
Theresa Brunet, Benedikt Zott, Victoria Lieftüchter, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 26, 2019
Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients
Christian Staufner, Bianca Peters, Matias Wagner, et al.
Genome Medicine
|
April 5, 2022
Clinical implementation of RNA sequencing for Mendelian disease diagnostics
Vicente A Yépez, Mirjana Gusic, Robert Kopajtich, et al.
The Journal of Allergy and Clinical Immunology
|
April 19, 2021
Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency
Stefano Vavassori, Janet Chou, Laura Eva Faletti, et al.
Page
of 6