Search research articles
Contact Us
Filters
Showing results (1-10 of 16) with videos related to
Page
of 2
Sort By:
Human Mutation
|
June 27, 2006
Father-to-daughter transmission of Cornelia de Lange syndrome caused by a mutation in the 5' untranslated region of the NIPBL Gene
Guntram Borck, Mohamed Zarhrate, Céline Cluzeau, et al.
Human Molecular Genetics
|
November 29, 2011
Genomic architecture at the Incontinentia Pigmenti locus favours de novo pathological alleles through different mechanisms
Francesca Fusco, Mariateresa Paciolla, Federico Napolitano, et al.
Molecular Genetics and Metabolism
|
July 17, 2017
Severe neuroimaging anomalies are usually associated with random X inactivation in leucocytes circulating DNA in X-linked dominant Incontinentia Pigmenti
Volodia Dangouloff-Ros, Smail Hadj-Rabia, Judite Oliveira Santos, et al.
Experimental Dermatology
|
June 13, 2017
Mutation in IL36RN impairs the processing and regulatory function of the interleukin-36-receptor antagonist and is associated with DITRA syndrome
Elodie Bal, Ai Ching Lim, Min Shen, et al.
Cytogenetic and Genome Research
|
April 12, 2019
Turkish Ectodermal Dysplasia Cohort: From Phenotype to Genotype in 17 Families
Yeliz Güven, Elodie Bal, Umut Altunoglu, et al.
Immunity
|
September 15, 2019
Unique and Shared Epigenetic Programs of the CREBBP and EP300 Acetyltransferases in Germinal Center B Cells Reveal Targetable Dependencies in Lymphoma
Stefanie N Meyer, Claudio Scuoppo, Sofija Vlasevska, et al.
Human Mutation
|
March 20, 2008
Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations
Francesca Fusco, Alessandra Pescatore, Elodie Bal, et al.
Nature
|
July 6, 2022
Super-enhancer hypermutation alters oncogene expression in B cell lymphoma
Elodie Bal, Rahul Kumar, Mohammad Hadigol, et al.
Nature
|
October 17, 2022
Author Correction: Super-enhancer hypermutation alters oncogene expression in B cell lymphoma
Elodie Bal, Rahul Kumar, Mohammad Hadigol, et al.
The Journal of Investigative Dermatology
|
May 26, 2016
IL36RN Mutations Affect Protein Expression and Function: A Basis for Genotype-Phenotype Correlation in Pustular Diseases
Marie Tauber, Elodie Bal, Xue-Yuan Pei, et al.
Page
of 2
Search research articles
Search
Showing results (1-10 of 16) with videos related to
Sort By:
Page
of 2
Human Mutation
|
June 27, 2006
Father-to-daughter transmission of Cornelia de Lange syndrome caused by a mutation in the 5' untranslated region of the NIPBL Gene
Guntram Borck, Mohamed Zarhrate, Céline Cluzeau, et al.
Human Molecular Genetics
|
November 29, 2011
Genomic architecture at the Incontinentia Pigmenti locus favours de novo pathological alleles through different mechanisms
Francesca Fusco, Mariateresa Paciolla, Federico Napolitano, et al.
Molecular Genetics and Metabolism
|
July 17, 2017
Severe neuroimaging anomalies are usually associated with random X inactivation in leucocytes circulating DNA in X-linked dominant Incontinentia Pigmenti
Volodia Dangouloff-Ros, Smail Hadj-Rabia, Judite Oliveira Santos, et al.
Experimental Dermatology
|
June 13, 2017
Mutation in IL36RN impairs the processing and regulatory function of the interleukin-36-receptor antagonist and is associated with DITRA syndrome
Elodie Bal, Ai Ching Lim, Min Shen, et al.
Cytogenetic and Genome Research
|
April 12, 2019
Turkish Ectodermal Dysplasia Cohort: From Phenotype to Genotype in 17 Families
Yeliz Güven, Elodie Bal, Umut Altunoglu, et al.
Immunity
|
September 15, 2019
Unique and Shared Epigenetic Programs of the CREBBP and EP300 Acetyltransferases in Germinal Center B Cells Reveal Targetable Dependencies in Lymphoma
Stefanie N Meyer, Claudio Scuoppo, Sofija Vlasevska, et al.
Human Mutation
|
March 20, 2008
Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations
Francesca Fusco, Alessandra Pescatore, Elodie Bal, et al.
Nature
|
July 6, 2022
Super-enhancer hypermutation alters oncogene expression in B cell lymphoma
Elodie Bal, Rahul Kumar, Mohammad Hadigol, et al.
Nature
|
October 17, 2022
Author Correction: Super-enhancer hypermutation alters oncogene expression in B cell lymphoma
Elodie Bal, Rahul Kumar, Mohammad Hadigol, et al.
The Journal of Investigative Dermatology
|
May 26, 2016
IL36RN Mutations Affect Protein Expression and Function: A Basis for Genotype-Phenotype Correlation in Pustular Diseases
Marie Tauber, Elodie Bal, Xue-Yuan Pei, et al.
Page
of 2