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Steven R Ellis

Showing results (31-40 of 49) with videos related to

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Scientific Reports|September 22, 2017
Lymphoblastoid cell lines from Diamond Blackfan anaemia patients exhibit a full ribosomal stress phenotype that is rescued by gene therapyAnna Aspesi, Valentina Monteleone, Marta Betti, et al.
Scientific Reports|November 17, 2018
Author Correction: Lymphoblastoid cell lines from Diamond Blackfan anaemia patients exhibit a full ribosomal stress phenotype that is rescued by gene therapyAnna Aspesi, Valentina Monteleone, Marta Betti, et al.
Blood|April 6, 2017
Molecular convergence in ex vivo models of Diamond-Blackfan anemiaKelly A O'Brien, Jason E Farrar, Adrianna Vlachos, et al.
JCI Insight|November 22, 2022
An RPS19-edited model for Diamond-Blackfan anemia reveals TP53-dependent impairment of hematopoietic stem cell activitySenthil Velan Bhoopalan, Jonathan S Yen, Thiyagaraj Mayuranathan, et al.
Plos One|July 11, 2013
Variations of the UNC13D gene in patients with autoimmune lymphoproliferative syndromeMaurizio Aricò, Elena Boggio, Valentina Cetica, et al.
Cold Spring Harbor Molecular Case Studies|June 24, 2021
Pathogenic germline <i>IKZF1</i> variant alters hematopoietic gene expression profilesSeth A Brodie, Payal P Khincha, Neelam Giri, et al.
Gene|May 20, 2014
Dissecting the transcriptional phenotype of ribosomal protein deficiency: implications for Diamond-Blackfan AnemiaAnna Aspesi, Elisa Pavesi, Elisa Robotti, et al.
Journal of Medical Genetics|March 11, 2017
Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisationLisa Mirabello, Payal P Khincha, Steven R Ellis, et al.
Circulation. Genomic and Precision Medicine|May 12, 2018
Increased Prevalence of Congenital Heart Disease in Children With Diamond Blackfan Anemia Suggests Unrecognized Diamond Blackfan Anemia as a Cause of Congenital Heart Disease in the General Population: A Report of the Diamond Blackfan Anemia RegistryAdrianna Vlachos, Diana S Osorio, Evangelia Atsidaftos, et al.
Blood|August 15, 2013
Diminutive somatic deletions in the 5q region lead to a phenotype atypical of classical 5q- syndromeAdrianna Vlachos, Jason E Farrar, Eva Atsidaftos, et al.
Pageof 5

Showing results (31-40 of 49) with videos related to

Sort By:
Pageof 5
Scientific Reports|September 22, 2017
Lymphoblastoid cell lines from Diamond Blackfan anaemia patients exhibit a full ribosomal stress phenotype that is rescued by gene therapyAnna Aspesi, Valentina Monteleone, Marta Betti, et al.
Scientific Reports|November 17, 2018
Author Correction: Lymphoblastoid cell lines from Diamond Blackfan anaemia patients exhibit a full ribosomal stress phenotype that is rescued by gene therapyAnna Aspesi, Valentina Monteleone, Marta Betti, et al.
Blood|April 6, 2017
Molecular convergence in ex vivo models of Diamond-Blackfan anemiaKelly A O'Brien, Jason E Farrar, Adrianna Vlachos, et al.
JCI Insight|November 22, 2022
An RPS19-edited model for Diamond-Blackfan anemia reveals TP53-dependent impairment of hematopoietic stem cell activitySenthil Velan Bhoopalan, Jonathan S Yen, Thiyagaraj Mayuranathan, et al.
Plos One|July 11, 2013
Variations of the UNC13D gene in patients with autoimmune lymphoproliferative syndromeMaurizio Aricò, Elena Boggio, Valentina Cetica, et al.
Cold Spring Harbor Molecular Case Studies|June 24, 2021
Pathogenic germline <i>IKZF1</i> variant alters hematopoietic gene expression profilesSeth A Brodie, Payal P Khincha, Neelam Giri, et al.
Gene|May 20, 2014
Dissecting the transcriptional phenotype of ribosomal protein deficiency: implications for Diamond-Blackfan AnemiaAnna Aspesi, Elisa Pavesi, Elisa Robotti, et al.
Journal of Medical Genetics|March 11, 2017
Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisationLisa Mirabello, Payal P Khincha, Steven R Ellis, et al.
Circulation. Genomic and Precision Medicine|May 12, 2018
Increased Prevalence of Congenital Heart Disease in Children With Diamond Blackfan Anemia Suggests Unrecognized Diamond Blackfan Anemia as a Cause of Congenital Heart Disease in the General Population: A Report of the Diamond Blackfan Anemia RegistryAdrianna Vlachos, Diana S Osorio, Evangelia Atsidaftos, et al.
Blood|August 15, 2013
Diminutive somatic deletions in the 5q region lead to a phenotype atypical of classical 5q- syndromeAdrianna Vlachos, Jason E Farrar, Eva Atsidaftos, et al.
Pageof 5