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Joseph G Gleeson

Showing results (231-240 of 325) with videos related to

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Cell|August 6, 2013
AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorderNaiara Akizu, Vincent Cantagrel, Jana Schroth, et al.
American Journal of Human Genetics|November 14, 2023
Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndromeEden Engal, Kaisa Teele Oja, Reza Maroofian, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 26, 2025
Comprehensive genotypic, phenotypic, and biochemical characterization of GOT2 deficiency: A progressive neurodevelopmental disorder with epilepsy and abnormal movementsHannah M German, Maha S Zaki, Muhammad A Usmani, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 14, 2020
Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative conditionShereen G Ghosh, Sangmoon Lee, Rudy Fabunan, et al.
Proceedings of the National Academy of Sciences of the United States of America|April 22, 2020
Loss of the neural-specific BAF subunit ACTL6B relieves repression of early response genes and causes recessive autismWendy Wenderski, Lu Wang, Andrey Krokhotin, et al.
Brain : a Journal of Neurology|September 21, 2010
A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolismEva Morava, Ron A Wevers, Vincent Cantagrel, et al.
The New England Journal of Medicine|September 29, 2021
A Human Pleiotropic Multiorgan Condition Caused by Deficient Wnt SecretionGuoliang Chai, Emmanuelle Szenker-Ravi, Changuk Chung, et al.
Nature Communications|December 1, 2020
MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar HypoplasiaEkin Ucuncu, Karthyayani Rajamani, Miranda S C Wilson, et al.
Nature Communications|February 14, 2019
Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathyJennifer Friedman, Desiree E Smith, Mahmoud Y Issa, et al.
Nature Medicine|December 25, 2019
Autism risk in offspring can be assessed through quantification of male sperm mosaicismMartin W Breuss, Danny Antaki, Renee D George, et al.
Pageof 33

Showing results (231-240 of 325) with videos related to

Sort By:
Pageof 33
Cell|August 6, 2013
AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorderNaiara Akizu, Vincent Cantagrel, Jana Schroth, et al.
American Journal of Human Genetics|November 14, 2023
Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndromeEden Engal, Kaisa Teele Oja, Reza Maroofian, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 26, 2025
Comprehensive genotypic, phenotypic, and biochemical characterization of GOT2 deficiency: A progressive neurodevelopmental disorder with epilepsy and abnormal movementsHannah M German, Maha S Zaki, Muhammad A Usmani, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 14, 2020
Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative conditionShereen G Ghosh, Sangmoon Lee, Rudy Fabunan, et al.
Proceedings of the National Academy of Sciences of the United States of America|April 22, 2020
Loss of the neural-specific BAF subunit ACTL6B relieves repression of early response genes and causes recessive autismWendy Wenderski, Lu Wang, Andrey Krokhotin, et al.
Brain : a Journal of Neurology|September 21, 2010
A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolismEva Morava, Ron A Wevers, Vincent Cantagrel, et al.
The New England Journal of Medicine|September 29, 2021
A Human Pleiotropic Multiorgan Condition Caused by Deficient Wnt SecretionGuoliang Chai, Emmanuelle Szenker-Ravi, Changuk Chung, et al.
Nature Communications|December 1, 2020
MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar HypoplasiaEkin Ucuncu, Karthyayani Rajamani, Miranda S C Wilson, et al.
Nature Communications|February 14, 2019
Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathyJennifer Friedman, Desiree E Smith, Mahmoud Y Issa, et al.
Nature Medicine|December 25, 2019
Autism risk in offspring can be assessed through quantification of male sperm mosaicismMartin W Breuss, Danny Antaki, Renee D George, et al.
Pageof 33