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P Willemsen

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American Journal of Human Genetics|August 20, 2019

Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related EncephalopathyClara D M van Karnebeek, Rúben J Ramos, Xiao-Yan Wen, et al.

Journal of Neurology|March 24, 2018

Incidence and outcome of acquired demyelinating syndromes in Dutch children: update of a nationwide and prospective studyC L de Mol, Y Y M Wong, E D van Pelt, et al.

Human Mutation|January 4, 2012

Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype studyMijke M M Verhagen, James I Last, Frans B L Hogervorst, et al.

Human Mutation|November 12, 2014

Variants in CUL4B are associated with cerebral malformationsAnneke T Vulto-van Silfhout, Tadashi Nakagawa, Nadia Bahi-Buisson, et al.

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.

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Search research articles

Showing results (331-340 of 335) with videos related to

Sort By:

Pageof 34

You have reached the last page of results.This site can display upto 335 results.

American Journal of Human Genetics|August 20, 2019

Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related EncephalopathyClara D M van Karnebeek, Rúben J Ramos, Xiao-Yan Wen, et al.

Journal of Neurology|March 24, 2018

Incidence and outcome of acquired demyelinating syndromes in Dutch children: update of a nationwide and prospective studyC L de Mol, Y Y M Wong, E D van Pelt, et al.

Human Mutation|January 4, 2012

Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype studyMijke M M Verhagen, James I Last, Frans B L Hogervorst, et al.

Human Mutation|November 12, 2014

Variants in CUL4B are associated with cerebral malformationsAnneke T Vulto-van Silfhout, Tadashi Nakagawa, Nadia Bahi-Buisson, et al.

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.

Pageof 34