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Human Mutation
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December 30, 2014
Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutations
Anna Caciotti, Rodolfo Tonin, Miriam Rigoldi, et al.
Journal of Hepatology
|
May 21, 2014
Homozygous MTTP and APOB mutations may lead to hepatic steatosis and fibrosis despite metabolic differences in congenital hypocholesterolemia
Mathilde Di Filippo, Philippe Moulin, Pascal Roy, et al.
Current Issues in Molecular Biology
|
May 15, 2023
Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD)
Paola De Filippi, Edoardo Errichiello, Antonio Toscano, et al.
Kidney International
|
October 11, 2025
Hierarchical clustering uncovered disease patterns and further untangled complexities in immune complex-mediated idiopathic MPGN and C3 glomerulopathy
Ariela Benigni, Erica Daina, Henry Löffler-Wirth, et al.
Clinical Journal of the American Society of Nephrology : CJASN
|
December 23, 2025
Natural History and Clinical Associations with Long-Term Outcomes in Primary C3 Glomerulopathy and Immune Complex-Mediated Membranoproliferative Glomerulonephritis
Giliane Nanchen, Maddalena Marasà, Matteo Breno, et al.
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Search research articles
Search
Showing results (31-40 of 35) with videos related to
Sort By:
Page
of 4
You have reached the last page of results.
This site can display upto 35 results.
Human Mutation
|
December 30, 2014
Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutations
Anna Caciotti, Rodolfo Tonin, Miriam Rigoldi, et al.
Journal of Hepatology
|
May 21, 2014
Homozygous MTTP and APOB mutations may lead to hepatic steatosis and fibrosis despite metabolic differences in congenital hypocholesterolemia
Mathilde Di Filippo, Philippe Moulin, Pascal Roy, et al.
Current Issues in Molecular Biology
|
May 15, 2023
Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD)
Paola De Filippi, Edoardo Errichiello, Antonio Toscano, et al.
Kidney International
|
October 11, 2025
Hierarchical clustering uncovered disease patterns and further untangled complexities in immune complex-mediated idiopathic MPGN and C3 glomerulopathy
Ariela Benigni, Erica Daina, Henry Löffler-Wirth, et al.
Clinical Journal of the American Society of Nephrology : CJASN
|
December 23, 2025
Natural History and Clinical Associations with Long-Term Outcomes in Primary C3 Glomerulopathy and Immune Complex-Mediated Membranoproliferative Glomerulonephritis
Giliane Nanchen, Maddalena Marasà, Matteo Breno, et al.
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of 4