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Didem Demirbas

Showing results (11-20 of 34) with videos related to

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Molecular Genetics and Metabolism|September 16, 2023
The treatment of biochemical genetic diseases: From substrate reduction to nucleic acid therapiesE Naomi Vos, Didem Demirbas, Matthew Mangel, et al.
Molecular Genetics and Metabolism|August 15, 2021
Transient developmental delays in infants with Duarte-2 variant galactosemiaSusan E Waisbren, Catherine Tran, Didem Demirbas, et al.
Molecular Genetics and Metabolism Reports|March 19, 2026
Two adult sisters with untreated phenylketonuria: Strikingly discordant clinical phenotypeDidem Demirbas, Susan E Waisbren, Olaf Bodamer, et al.
JIMD Reports|May 12, 2021
[<sup>13</sup>C]-galactose breath test in a patient with galactokinase deficiency and spastic diparesisCan Ficicioglu, Didem Demirbas, Britt Derks, et al.
Journal of Biomolecular Screening|March 16, 2010
New classes of PDE7 inhibitors identified by a fission yeast-based HTSManal A Alaamery, Arlene R Wyman, F Douglas Ivey, et al.
Cellular Signalling|December 2, 2010
Use of a Schizosaccharomyces pombe PKA-repressible reporter to study cGMP metabolising phosphodiesterasesDidem Demirbas, Ozge Ceyhan, Arlene R Wyman, et al.
Biorxiv : the Preprint Server for Biology|March 10, 2025
Multi-omic analysis of the ciliogenic transcription factor <i>RFX3</i> reveals a role in promoting activity-dependent responses via enhancing CREB binding in human neuronsJenny Lai, Didem Demirbas, Kaitlyn Phillips, et al.
Molecular Genetics and Metabolism|February 6, 2019
The ability of an LC-MS/MS-based erythrocyte GALT enzyme assay to predict the phenotype in subjects with GALT deficiencyDidem Demirbas, Xiaoping Huang, Vikram Daesety, et al.
Molecular Genetics and Metabolism|July 23, 2018
5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelinationLance H Rodan, Wanshu Qi, Gregory S Ducker, et al.
JIMD Reports|June 27, 2019
Phenotypic variability in deficiency of the α subunit of succinate-CoA ligaseDidem Demirbas, David J Harris, Pamela H Arn, et al.
Pageof 4

Showing results (11-20 of 34) with videos related to

Sort By:
Pageof 4
Molecular Genetics and Metabolism|September 16, 2023
The treatment of biochemical genetic diseases: From substrate reduction to nucleic acid therapiesE Naomi Vos, Didem Demirbas, Matthew Mangel, et al.
Molecular Genetics and Metabolism|August 15, 2021
Transient developmental delays in infants with Duarte-2 variant galactosemiaSusan E Waisbren, Catherine Tran, Didem Demirbas, et al.
Molecular Genetics and Metabolism Reports|March 19, 2026
Two adult sisters with untreated phenylketonuria: Strikingly discordant clinical phenotypeDidem Demirbas, Susan E Waisbren, Olaf Bodamer, et al.
JIMD Reports|May 12, 2021
[<sup>13</sup>C]-galactose breath test in a patient with galactokinase deficiency and spastic diparesisCan Ficicioglu, Didem Demirbas, Britt Derks, et al.
Journal of Biomolecular Screening|March 16, 2010
New classes of PDE7 inhibitors identified by a fission yeast-based HTSManal A Alaamery, Arlene R Wyman, F Douglas Ivey, et al.
Cellular Signalling|December 2, 2010
Use of a Schizosaccharomyces pombe PKA-repressible reporter to study cGMP metabolising phosphodiesterasesDidem Demirbas, Ozge Ceyhan, Arlene R Wyman, et al.
Biorxiv : the Preprint Server for Biology|March 10, 2025
Multi-omic analysis of the ciliogenic transcription factor <i>RFX3</i> reveals a role in promoting activity-dependent responses via enhancing CREB binding in human neuronsJenny Lai, Didem Demirbas, Kaitlyn Phillips, et al.
Molecular Genetics and Metabolism|February 6, 2019
The ability of an LC-MS/MS-based erythrocyte GALT enzyme assay to predict the phenotype in subjects with GALT deficiencyDidem Demirbas, Xiaoping Huang, Vikram Daesety, et al.
Molecular Genetics and Metabolism|July 23, 2018
5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelinationLance H Rodan, Wanshu Qi, Gregory S Ducker, et al.
JIMD Reports|June 27, 2019
Phenotypic variability in deficiency of the α subunit of succinate-CoA ligaseDidem Demirbas, David J Harris, Pamela H Arn, et al.
Pageof 4