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Plos Genetics
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December 7, 2016
Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception
Deborah Chiabrando, Marco Castori, Maja di Rocco, et al.
Brain : a Journal of Neurology
|
January 25, 2014
Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3
Uwe Kornak, Inès Mademan, Marte Schinke, et al.
American Journal of Human Genetics
|
September 17, 2013
Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction
Katrin Koehler, Meera Malik, Saqib Mahmood, et al.
The Journal of Clinical Investigation
|
May 4, 2021
C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation
Eva Lausberg, Sebastian Gießelmann, Joseph P Dewulf, et al.
Page
of 1
Search research articles
Search
Showing results (1-10 of 4) with videos related to
Sort By:
Page
of 1
Plos Genetics
|
December 7, 2016
Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception
Deborah Chiabrando, Marco Castori, Maja di Rocco, et al.
Brain : a Journal of Neurology
|
January 25, 2014
Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3
Uwe Kornak, Inès Mademan, Marte Schinke, et al.
American Journal of Human Genetics
|
September 17, 2013
Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction
Katrin Koehler, Meera Malik, Saqib Mahmood, et al.
The Journal of Clinical Investigation
|
May 4, 2021
C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation
Eva Lausberg, Sebastian Gießelmann, Joseph P Dewulf, et al.
Page
of 1