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Martin Kircher

Showing results (61-70 of 89) with videos related to

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Nature|October 21, 2011
The evolution of gene expression levels in mammalian organsDavid Brawand, Magali Soumillon, Anamaria Necsulea, et al.
Nature|January 15, 2025
Massively parallel characterization of transcriptional regulatory elementsVikram Agarwal, Fumitaka Inoue, Max Schubach, et al.
Nature Protocols|October 31, 2020
Author Correction: lentiMPRA and MPRAflow for high-throughput functional characterization of gene regulatory elementsM Grace Gordon, Fumitaka Inoue, Beth Martin, et al.
Nature Protocols|July 10, 2020
lentiMPRA and MPRAflow for high-throughput functional characterization of gene regulatory elementsM Grace Gordon, Fumitaka Inoue, Beth Martin, et al.
Mitochondrion|February 21, 2017
Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiencyMariella T Simon, Bobby G Ng, Marisa W Friederich, et al.
Nature Genetics|May 23, 2018
Multiplex assessment of protein variant abundance by massively parallel sequencingKenneth A Matreyek, Lea M Starita, Jason J Stephany, et al.
American Journal of Human Genetics|November 12, 2018
Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch SyndromeJennifer A Wambach, Daniel J Wegner, Nivedita Patni, et al.
JIMD Reports|August 18, 2018
DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New PatientsBobby G Ng, Hunter R Underhill, Lars Palm, et al.
Human Mutation|August 13, 2015
Expanding the Molecular and Clinical Phenotype of SSR4-CDGBobby G Ng, Kimiyo Raymond, Martin Kircher, et al.
American Journal of Human Genetics|April 9, 2013
Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylationBobby G Ng, Kati J Buckingham, Kimiyo Raymond, et al.
Pageof 9

Showing results (61-70 of 89) with videos related to

Sort By:
Pageof 9
Nature|October 21, 2011
The evolution of gene expression levels in mammalian organsDavid Brawand, Magali Soumillon, Anamaria Necsulea, et al.
Nature|January 15, 2025
Massively parallel characterization of transcriptional regulatory elementsVikram Agarwal, Fumitaka Inoue, Max Schubach, et al.
Nature Protocols|October 31, 2020
Author Correction: lentiMPRA and MPRAflow for high-throughput functional characterization of gene regulatory elementsM Grace Gordon, Fumitaka Inoue, Beth Martin, et al.
Nature Protocols|July 10, 2020
lentiMPRA and MPRAflow for high-throughput functional characterization of gene regulatory elementsM Grace Gordon, Fumitaka Inoue, Beth Martin, et al.
Mitochondrion|February 21, 2017
Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiencyMariella T Simon, Bobby G Ng, Marisa W Friederich, et al.
Nature Genetics|May 23, 2018
Multiplex assessment of protein variant abundance by massively parallel sequencingKenneth A Matreyek, Lea M Starita, Jason J Stephany, et al.
American Journal of Human Genetics|November 12, 2018
Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch SyndromeJennifer A Wambach, Daniel J Wegner, Nivedita Patni, et al.
JIMD Reports|August 18, 2018
DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New PatientsBobby G Ng, Hunter R Underhill, Lars Palm, et al.
Human Mutation|August 13, 2015
Expanding the Molecular and Clinical Phenotype of SSR4-CDGBobby G Ng, Kimiyo Raymond, Martin Kircher, et al.
American Journal of Human Genetics|April 9, 2013
Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylationBobby G Ng, Kati J Buckingham, Kimiyo Raymond, et al.
Pageof 9