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Human Molecular Genetics
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June 20, 2013
PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease
Hamid Azzedine, Petra Zavadakova, Violaine Planté-Bordeneuve, et al.
American Journal of Human Genetics
|
October 24, 2003
Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy
Jan Senderek, Carsten Bergmann, Claudia Stendel, et al.
Nature Genetics
|
May 26, 2015
Transcriptional regulator PRDM12 is essential for human pain perception
Ya-Chun Chen, Michaela Auer-Grumbach, Shinya Matsukawa, et al.
The EMBO Journal
|
November 14, 2018
Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration
Vandana Shashi, Maria M Magiera, Dennis Klein, et al.
Brain : a Journal of Neurology
|
May 10, 2021
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia
Manuela Wiessner, Reza Maroofian, Meng-Yuan Ni, et al.
Page
of 7
Search research articles
Search
Showing results (61-70 of 65) with videos related to
Sort By:
Page
of 7
You have reached the last page of results.
This site can display upto 65 results.
Human Molecular Genetics
|
June 20, 2013
PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease
Hamid Azzedine, Petra Zavadakova, Violaine Planté-Bordeneuve, et al.
American Journal of Human Genetics
|
October 24, 2003
Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy
Jan Senderek, Carsten Bergmann, Claudia Stendel, et al.
Nature Genetics
|
May 26, 2015
Transcriptional regulator PRDM12 is essential for human pain perception
Ya-Chun Chen, Michaela Auer-Grumbach, Shinya Matsukawa, et al.
The EMBO Journal
|
November 14, 2018
Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration
Vandana Shashi, Maria M Magiera, Dennis Klein, et al.
Brain : a Journal of Neurology
|
May 10, 2021
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia
Manuela Wiessner, Reza Maroofian, Meng-Yuan Ni, et al.
Page
of 7