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Science Translational Medicine
|
December 3, 2010
Replacing the enzyme alpha-L-iduronidase at birth ameliorates symptoms in the brain and periphery of dogs with mucopolysaccharidosis type I
Ashley D Dierenfeld, Michael F McEntee, Carole A Vogler, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 1, 2018
De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy
F Tran Mau-Them, L Guibaud, L Duplomb, et al.
American Journal of Human Genetics
|
July 31, 2018
IRF2BPL Is Associated with Neurological Phenotypes
Paul C Marcogliese, Vandana Shashi, Rebecca C Spillmann, et al.
American Journal of Human Genetics
|
September 8, 2018
IRF2BPL Is Associated with Neurological Phenotypes
Paul C Marcogliese, Vandana Shashi, Rebecca C Spillmann, et al.
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of 2
Search research articles
Search
Showing results (11-20 of 14) with videos related to
Sort By:
Page
of 2
You have reached the last page of results.
This site can display upto 14 results.
Science Translational Medicine
|
December 3, 2010
Replacing the enzyme alpha-L-iduronidase at birth ameliorates symptoms in the brain and periphery of dogs with mucopolysaccharidosis type I
Ashley D Dierenfeld, Michael F McEntee, Carole A Vogler, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 1, 2018
De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy
F Tran Mau-Them, L Guibaud, L Duplomb, et al.
American Journal of Human Genetics
|
July 31, 2018
IRF2BPL Is Associated with Neurological Phenotypes
Paul C Marcogliese, Vandana Shashi, Rebecca C Spillmann, et al.
American Journal of Human Genetics
|
September 8, 2018
IRF2BPL Is Associated with Neurological Phenotypes
Paul C Marcogliese, Vandana Shashi, Rebecca C Spillmann, et al.
Page
of 2