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American Journal of Medical Genetics. Part A
|
September 25, 2014
ERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelination
Laila Shehata, Dimitre R Simeonov, Anja Raams, et al.
Human Mutation
|
March 19, 2013
DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics
Dimitre R Simeonov, Xinjing Wang, Chen Wang, et al.
European Journal of Immunology
|
October 16, 2020
Dysregulated RASGRP1 expression through RUNX1 mediated transcription promotes autoimmunity
Matthijs J D Baars, Thera Douma, Dimitre R Simeonov, et al.
European Journal of Human Genetics : EJHG
|
December 8, 2011
Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration
Tyler Mark Pierson, Dimitre R Simeonov, Murat Sincan, et al.
Neurology
|
June 8, 2012
Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM1-gangliosidosis
Tyler Mark Pierson, David A Adams, Thomas Markello, et al.
Communications Biology
|
February 23, 2019
A large CRISPR-induced bystander mutation causes immune dysregulation
Dimitre R Simeonov, Alexander J Brandt, Alice Y Chan, et al.
Annals of Clinical and Translational Neurology
|
May 20, 2014
<i>GRIN2A</i> mutation and early-onset epileptic encephalopathy: personalized therapy with memantine
Tyler Mark Pierson, Hongjie Yuan, Eric D Marsh, et al.
Nature Immunology
|
September 29, 2020
Functional CRISPR dissection of gene networks controlling human regulatory T cell identity
Kathrin Schumann, Siddharth S Raju, Michael Lauber, et al.
Nature
|
June 6, 2020
CRISPR screen in regulatory T cells reveals modulators of Foxp3
Jessica T Cortez, Elena Montauti, Eric Shifrut, et al.
Nature Genetics
|
May 29, 2024
Systematic decoding of cis gene regulation defines context-dependent control of the multi-gene costimulatory receptor locus in human T cells
Cody T Mowery, Jacob W Freimer, Zeyu Chen, et al.
Page
of 5
Search research articles
Search
Showing results (21-30 of 50) with videos related to
Sort By:
Page
of 5
American Journal of Medical Genetics. Part A
|
September 25, 2014
ERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelination
Laila Shehata, Dimitre R Simeonov, Anja Raams, et al.
Human Mutation
|
March 19, 2013
DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics
Dimitre R Simeonov, Xinjing Wang, Chen Wang, et al.
European Journal of Immunology
|
October 16, 2020
Dysregulated RASGRP1 expression through RUNX1 mediated transcription promotes autoimmunity
Matthijs J D Baars, Thera Douma, Dimitre R Simeonov, et al.
European Journal of Human Genetics : EJHG
|
December 8, 2011
Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration
Tyler Mark Pierson, Dimitre R Simeonov, Murat Sincan, et al.
Neurology
|
June 8, 2012
Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM1-gangliosidosis
Tyler Mark Pierson, David A Adams, Thomas Markello, et al.
Communications Biology
|
February 23, 2019
A large CRISPR-induced bystander mutation causes immune dysregulation
Dimitre R Simeonov, Alexander J Brandt, Alice Y Chan, et al.
Annals of Clinical and Translational Neurology
|
May 20, 2014
<i>GRIN2A</i> mutation and early-onset epileptic encephalopathy: personalized therapy with memantine
Tyler Mark Pierson, Hongjie Yuan, Eric D Marsh, et al.
Nature Immunology
|
September 29, 2020
Functional CRISPR dissection of gene networks controlling human regulatory T cell identity
Kathrin Schumann, Siddharth S Raju, Michael Lauber, et al.
Nature
|
June 6, 2020
CRISPR screen in regulatory T cells reveals modulators of Foxp3
Jessica T Cortez, Elena Montauti, Eric Shifrut, et al.
Nature Genetics
|
May 29, 2024
Systematic decoding of cis gene regulation defines context-dependent control of the multi-gene costimulatory receptor locus in human T cells
Cody T Mowery, Jacob W Freimer, Zeyu Chen, et al.
Page
of 5