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Human Molecular Genetics
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July 21, 2012
An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity
Kyoko Takano, Dan Liu, Patrick Tarpey, et al.
Human Molecular Genetics
|
September 13, 2013
A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation
Luigi Boccuto, Kazuhiro Aoki, Heather Flanagan-Steet, et al.
Proteins
|
October 28, 2003
Using multiple structure alignments, fast model building, and energetic analysis in fold recognition and homology modeling
Donald Petrey, Zhexin Xiang, Christopher L Tang, et al.
The Journal of Biological Chemistry
|
May 18, 2025
Quantification and structure-function analysis of calpain-1 and calpain-2 protease subunit interactions
Ivan Shapovalov, Prawin Rimal, Pitambar Poudel, et al.
Proteins
|
October 18, 2011
Progress in the prediction of pKa values in proteins
Emil Alexov, Ernest L Mehler, Nathan Baker, et al.
The Journal of Biological Chemistry
|
March 18, 2017
Identification and characterization of a missense mutation in the <i>O</i>-linked β-<i>N</i>-acetylglucosamine (<i>O</i>-GlcNAc) transferase gene that segregates with X-linked intellectual disability
Krithika Vaidyanathan, Tejasvi Niranjan, Nithya Selvan, et al.
Cell Reports. Medicine
|
May 5, 2021
Increased p53 signaling impairs neural differentiation in HUWE1-promoted intellectual disabilities
Rossana Aprigliano, Merdane Ezgi Aksu, Stefano Bradamante, et al.
Human Molecular Genetics
|
June 10, 2015
ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons
Melanie May, Kyu-Seok Hwang, Judith Miles, et al.
Human Genetics
|
December 23, 2024
Assessing the predicted impact of single amino acid substitutions in calmodulin for CAGI6 challenges
Paola Turina, Giuditta Dal Cortivo, Carlos A Enriquez Sandoval, et al.
Nature Communications
|
July 25, 2020
Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy
Yu-Ri Lee, Kamal Khan, Kim Armfield-Uhas, et al.
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of 16
Search research articles
Search
Showing results (141-150 of 151) with videos related to
Sort By:
Page
of 16
Human Molecular Genetics
|
July 21, 2012
An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity
Kyoko Takano, Dan Liu, Patrick Tarpey, et al.
Human Molecular Genetics
|
September 13, 2013
A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation
Luigi Boccuto, Kazuhiro Aoki, Heather Flanagan-Steet, et al.
Proteins
|
October 28, 2003
Using multiple structure alignments, fast model building, and energetic analysis in fold recognition and homology modeling
Donald Petrey, Zhexin Xiang, Christopher L Tang, et al.
The Journal of Biological Chemistry
|
May 18, 2025
Quantification and structure-function analysis of calpain-1 and calpain-2 protease subunit interactions
Ivan Shapovalov, Prawin Rimal, Pitambar Poudel, et al.
Proteins
|
October 18, 2011
Progress in the prediction of pKa values in proteins
Emil Alexov, Ernest L Mehler, Nathan Baker, et al.
The Journal of Biological Chemistry
|
March 18, 2017
Identification and characterization of a missense mutation in the <i>O</i>-linked β-<i>N</i>-acetylglucosamine (<i>O</i>-GlcNAc) transferase gene that segregates with X-linked intellectual disability
Krithika Vaidyanathan, Tejasvi Niranjan, Nithya Selvan, et al.
Cell Reports. Medicine
|
May 5, 2021
Increased p53 signaling impairs neural differentiation in HUWE1-promoted intellectual disabilities
Rossana Aprigliano, Merdane Ezgi Aksu, Stefano Bradamante, et al.
Human Molecular Genetics
|
June 10, 2015
ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons
Melanie May, Kyu-Seok Hwang, Judith Miles, et al.
Human Genetics
|
December 23, 2024
Assessing the predicted impact of single amino acid substitutions in calmodulin for CAGI6 challenges
Paola Turina, Giuditta Dal Cortivo, Carlos A Enriquez Sandoval, et al.
Nature Communications
|
July 25, 2020
Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy
Yu-Ri Lee, Kamal Khan, Kim Armfield-Uhas, et al.
Page
of 16