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Journal of Medical Case Reports
|
April 26, 2023
Spinocerebellar ataxia type 14 (SCA14) in an Argentinian family: a case report
Niharika Duggirala, Kathie J Ngo, Sabrina M Pagnoni, et al.
Chromosome Research : an International Journal on the Molecular, Supramolecular and Evolutionary Aspects of Chromosome Biology
|
December 7, 2005
Allele-specific methylation of a functional CTCF binding site upstream of MEG3 in the human imprinted domain of 14q32
Alberto L Rosa, Yuan-Qing Wu, Bernard Kwabi-Addo, et al.
FEBS Letters
|
June 6, 2022
The DUX4 protein is a co-repressor of the progesterone and glucocorticoid nuclear receptors
Julieta Quintero, Nizar Y Saad, Sabrina M Pagnoni, et al.
Eukaryotic Cell
|
April 10, 2003
Histone H1 Is required for proper regulation of pyruvate decarboxylase gene expression in Neurospora crassa
H Diego Folco, Michael Freitag, Ana Ramón, et al.
American Journal of Human Genetics
|
November 13, 2002
myotilin Mutation found in second pedigree with LGMD1A
Michael A Hauser, Cecilia B Conde, Valeria Kowaljow, et al.
Neuromuscular Disorders : NMD
|
June 26, 2007
The DUX4 gene at the FSHD1A locus encodes a pro-apoptotic protein
Valeria Kowaljow, Aline Marcowycz, Eugénie Ansseau, et al.
Human Genetics
|
December 4, 2008
Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene
Laura Alías, Sara Bernal, Pablo Fuentes-Prior, et al.
Medicina
|
September 5, 2018
[Argentine consensus on late-onset Pompe's disease]
Alberto Dubrovsky, Ernesto Fulgenzi, Eduardo L De Vito, et al.
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of 2
Search research articles
Search
Showing results (11-20 of 18) with videos related to
Sort By:
Page
of 2
You have reached the last page of results.
This site can display upto 18 results.
Journal of Medical Case Reports
|
April 26, 2023
Spinocerebellar ataxia type 14 (SCA14) in an Argentinian family: a case report
Niharika Duggirala, Kathie J Ngo, Sabrina M Pagnoni, et al.
Chromosome Research : an International Journal on the Molecular, Supramolecular and Evolutionary Aspects of Chromosome Biology
|
December 7, 2005
Allele-specific methylation of a functional CTCF binding site upstream of MEG3 in the human imprinted domain of 14q32
Alberto L Rosa, Yuan-Qing Wu, Bernard Kwabi-Addo, et al.
FEBS Letters
|
June 6, 2022
The DUX4 protein is a co-repressor of the progesterone and glucocorticoid nuclear receptors
Julieta Quintero, Nizar Y Saad, Sabrina M Pagnoni, et al.
Eukaryotic Cell
|
April 10, 2003
Histone H1 Is required for proper regulation of pyruvate decarboxylase gene expression in Neurospora crassa
H Diego Folco, Michael Freitag, Ana Ramón, et al.
American Journal of Human Genetics
|
November 13, 2002
myotilin Mutation found in second pedigree with LGMD1A
Michael A Hauser, Cecilia B Conde, Valeria Kowaljow, et al.
Neuromuscular Disorders : NMD
|
June 26, 2007
The DUX4 gene at the FSHD1A locus encodes a pro-apoptotic protein
Valeria Kowaljow, Aline Marcowycz, Eugénie Ansseau, et al.
Human Genetics
|
December 4, 2008
Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene
Laura Alías, Sara Bernal, Pablo Fuentes-Prior, et al.
Medicina
|
September 5, 2018
[Argentine consensus on late-onset Pompe's disease]
Alberto Dubrovsky, Ernesto Fulgenzi, Eduardo L De Vito, et al.
Page
of 2