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Nancy Braverman

Showing results (51-60 of 60) with videos related to

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Proceedings of the National Academy of Sciences of the United States of America|August 28, 2010
Defective membrane expression of the Na(+)-HCO(3)(-) cotransporter NBCe1 is associated with familial migraineMasashi Suzuki, Wim Van Paesschen, Ingeborg Stalmans, et al.
Autophagy|June 2, 2021
Silencing PEX26 as an unconventional mode to kill drug-resistant cancer cells and forestall drug resistanceMichael S Dahabieh, Fan Huang, Christophe Goncalves, et al.
Journal of Child Neurology|January 5, 2022
Experience of Parents of Children with Genetically Determined Leukoencephalopathies Regarding the Adapted Health Care Services During the COVID-19 PandemicPouneh Amir Yazdani, Marie-Lou St-Jean, Sara Matovic, et al.
EMBO Reports|August 5, 2021
The biochemical basis of mitochondrial dysfunction in Zellweger Spectrum DisorderEsther Nuebel, Jeffrey T Morgan, Sarah Fogarty, et al.
Molecular Genetics and Metabolism|February 17, 2015
Disease specific therapies in leukodystrophies and leukoencephalopathiesGuy Helman, Keith Van Haren, Joshua L Bonkowsky, et al.
Pediatric Neurology|June 4, 2018
Health-Related Quality of Life for Patients With Genetically Determined LeukoencephalopathyAmytice Mirchi, Félixe Pelletier, Luan T Tran, et al.
American Journal of Medical Genetics. Part A|May 1, 2014
Clinical delineation and natural history of the PIK3CA-related overgrowth spectrumKim M Keppler-Noreuil, Julie C Sapp, Marjorie J Lindhurst, et al.
American Journal of Human Genetics|March 30, 2020
Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and EpilepsyThi Tuyet Mai Nguyen, Yoshiko Murakami, Sabrina Mobilio, et al.
Human Mutation|November 19, 2011
Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesisOlivier Gribouval, Vincent Morinière, Audrey Pawtowski, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 28, 2022
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variantsGeorg F Vogel, Yael Mozer-Glassberg, Yuval E Landau, et al.
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Showing results (51-60 of 60) with videos related to

Sort By:
Pageof 6
You have reached the last page of results.This site can display upto 60 results.
Proceedings of the National Academy of Sciences of the United States of America|August 28, 2010
Defective membrane expression of the Na(+)-HCO(3)(-) cotransporter NBCe1 is associated with familial migraineMasashi Suzuki, Wim Van Paesschen, Ingeborg Stalmans, et al.
Autophagy|June 2, 2021
Silencing PEX26 as an unconventional mode to kill drug-resistant cancer cells and forestall drug resistanceMichael S Dahabieh, Fan Huang, Christophe Goncalves, et al.
Journal of Child Neurology|January 5, 2022
Experience of Parents of Children with Genetically Determined Leukoencephalopathies Regarding the Adapted Health Care Services During the COVID-19 PandemicPouneh Amir Yazdani, Marie-Lou St-Jean, Sara Matovic, et al.
EMBO Reports|August 5, 2021
The biochemical basis of mitochondrial dysfunction in Zellweger Spectrum DisorderEsther Nuebel, Jeffrey T Morgan, Sarah Fogarty, et al.
Molecular Genetics and Metabolism|February 17, 2015
Disease specific therapies in leukodystrophies and leukoencephalopathiesGuy Helman, Keith Van Haren, Joshua L Bonkowsky, et al.
Pediatric Neurology|June 4, 2018
Health-Related Quality of Life for Patients With Genetically Determined LeukoencephalopathyAmytice Mirchi, Félixe Pelletier, Luan T Tran, et al.
American Journal of Medical Genetics. Part A|May 1, 2014
Clinical delineation and natural history of the PIK3CA-related overgrowth spectrumKim M Keppler-Noreuil, Julie C Sapp, Marjorie J Lindhurst, et al.
American Journal of Human Genetics|March 30, 2020
Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and EpilepsyThi Tuyet Mai Nguyen, Yoshiko Murakami, Sabrina Mobilio, et al.
Human Mutation|November 19, 2011
Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesisOlivier Gribouval, Vincent Morinière, Audrey Pawtowski, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 28, 2022
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variantsGeorg F Vogel, Yael Mozer-Glassberg, Yuval E Landau, et al.
Pageof 6