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American Journal of Human Genetics
|
October 13, 2006
Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs
Jan A M Smeitink, Orly Elpeleg, Hana Antonicka, et al.
American Journal of Human Genetics
|
May 26, 2009
Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease
Ann Saada, Rutger O Vogel, Saskia J Hoefs, et al.
Human Genomics
|
February 28, 2025
Sengers syndrome caused by biallelic TIMM29 variants and RNAi silencing in Drosophila orthologue recapitulates the human phenotype
Adel Shalata, Ann Saada, Mohammed Mahroum, et al.
The Biochemical Journal
|
August 7, 2016
Two transgenic mouse models for β-subunit components of succinate-CoA ligase yielding pleiotropic metabolic alterations
Gergely Kacso, Dora Ravasz, Judit Doczi, et al.
Cell Metabolism
|
April 5, 2011
Control of pancreatic β cell regeneration by glucose metabolism
Shay Porat, Noa Weinberg-Corem, Sharona Tornovsky-Babaey, et al.
Journal of Medical Genetics
|
August 6, 2025
Exploring the unique characteristics of genes with dual autosomal dominant and recessive inheritance: mechanisms, phenotypes and candidate identification
Shlomit Ezer, Tal Sido, Jonathan Rips, et al.
Cell Metabolism
|
December 17, 2013
Type 2 diabetes and congenital hyperinsulinism cause DNA double-strand breaks and p53 activity in β cells
Sharona Tornovsky-Babeay, Daniela Dadon, Oren Ziv, et al.
Cancer Discovery
|
March 27, 2023
Early Infiltration of Innate Immune Cells to the Liver Depletes HNF4α and Promotes Extrahepatic Carcinogenesis
Omer Goldman, Lital N Adler, Emma Hajaj, et al.
Brain : a Journal of Neurology
|
February 26, 2014
Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency
Monique Van Scherpenzeel, Sharita Timal, Daisy Rymen, et al.
Journal of Inherited Metabolic Disease
|
December 14, 2022
Addition of galactose-1-phosphate measurement enhances newborn screening for classical galactosemia
Suha Daas, Nasser Abu Salah, Yair Anikster, et al.
Page
of 15
Search research articles
Search
Showing results (131-140 of 144) with videos related to
Sort By:
Page
of 15
American Journal of Human Genetics
|
October 13, 2006
Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs
Jan A M Smeitink, Orly Elpeleg, Hana Antonicka, et al.
American Journal of Human Genetics
|
May 26, 2009
Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease
Ann Saada, Rutger O Vogel, Saskia J Hoefs, et al.
Human Genomics
|
February 28, 2025
Sengers syndrome caused by biallelic TIMM29 variants and RNAi silencing in Drosophila orthologue recapitulates the human phenotype
Adel Shalata, Ann Saada, Mohammed Mahroum, et al.
The Biochemical Journal
|
August 7, 2016
Two transgenic mouse models for β-subunit components of succinate-CoA ligase yielding pleiotropic metabolic alterations
Gergely Kacso, Dora Ravasz, Judit Doczi, et al.
Cell Metabolism
|
April 5, 2011
Control of pancreatic β cell regeneration by glucose metabolism
Shay Porat, Noa Weinberg-Corem, Sharona Tornovsky-Babaey, et al.
Journal of Medical Genetics
|
August 6, 2025
Exploring the unique characteristics of genes with dual autosomal dominant and recessive inheritance: mechanisms, phenotypes and candidate identification
Shlomit Ezer, Tal Sido, Jonathan Rips, et al.
Cell Metabolism
|
December 17, 2013
Type 2 diabetes and congenital hyperinsulinism cause DNA double-strand breaks and p53 activity in β cells
Sharona Tornovsky-Babeay, Daniela Dadon, Oren Ziv, et al.
Cancer Discovery
|
March 27, 2023
Early Infiltration of Innate Immune Cells to the Liver Depletes HNF4α and Promotes Extrahepatic Carcinogenesis
Omer Goldman, Lital N Adler, Emma Hajaj, et al.
Brain : a Journal of Neurology
|
February 26, 2014
Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency
Monique Van Scherpenzeel, Sharita Timal, Daisy Rymen, et al.
Journal of Inherited Metabolic Disease
|
December 14, 2022
Addition of galactose-1-phosphate measurement enhances newborn screening for classical galactosemia
Suha Daas, Nasser Abu Salah, Yair Anikster, et al.
Page
of 15