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Mark Pierson

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Nature Communications|February 1, 2020

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathyHolger Hengel, Célia Bosso-Lefèvre, George Grady, et al.

Brain : a Journal of Neurology|September 4, 2021

Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegiaManuela Wiessner, Reza Maroofian, Meng-Yuan Ni, et al.

Brain : a Journal of Neurology|May 10, 2021

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegiaManuela Wiessner, Reza Maroofian, Meng-Yuan Ni, et al.

Biological Psychiatry|August 25, 2019

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β SignalingBrett V Johnson, Raman Kumar, Sabrina Oishi, et al.

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Search research articles

Showing results (51-60 of 54) with videos related to

Sort By:

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You have reached the last page of results.This site can display upto 54 results.

Nature Communications|February 1, 2020

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathyHolger Hengel, Célia Bosso-Lefèvre, George Grady, et al.

Brain : a Journal of Neurology|September 4, 2021

Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegiaManuela Wiessner, Reza Maroofian, Meng-Yuan Ni, et al.

Brain : a Journal of Neurology|May 10, 2021

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegiaManuela Wiessner, Reza Maroofian, Meng-Yuan Ni, et al.

Biological Psychiatry|August 25, 2019

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β SignalingBrett V Johnson, Raman Kumar, Sabrina Oishi, et al.

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