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Berta Almoguera

Showing results (1-10 of 65) with videos related to

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International Journal of Molecular Sciences|February 11, 2016
Association between Genetic Polymorphisms and Response to Anti-TNFs in Patients with Inflammatory Bowel DiseaseRocío Prieto-Pérez, Berta Almoguera, Teresa Cabaleiro, et al.
Frontiers in Genetics|May 9, 2014
Assessing the functional consequence of loss of function variants using electronic medical record and large-scale genomics consortium effortsPatrick Sleiman, Jonathan Bradfield, Frank Mentch, et al.
Frontiers in Genetics|May 27, 2014
Imputation of TPMT defective alleles for the identification of patients with high-risk phenotypesBerta Almoguera, Lyam Vazquez, John J Connolly, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|March 20, 2024
A unique missense mutation in the RING domain impairs MID1 E3 ubiquitin ligase activity and localisation and is associated with uncommon Opitz Syndrome-like signsMartina Mascaro, Luigi D'Ambrosio, Elisa Lazzari, et al.
Movement Disorders Clinical Practice|February 19, 2025
Complex Multifocal Dystonia, Intellectual Disability, and Stereotypies Due to a Novel DYRK1A VariantLaura Santos Sánchez de Las Matas, Carlos Ordás, Berta Almoguera, et al.
Acta Neurologica Scandinavica|May 10, 2019
Drug-resistant epilepsy classified by a phenotyping algorithm associates with NTRK2Berta Almoguera, Emily McGinnis, Debra Abrams, et al.
American Journal of Medical Genetics. Part A|January 16, 2026
A Growth Chart for KBG SyndromeKaren J Low, Elena Martinez-Cayuelas, Berta Almoguera, et al.
Frontiers in Genetics|March 28, 2014
Copy number variation analysis in the context of electronic medical records and large-scale genomics consortium effortsJohn J Connolly, Joseph T Glessner, Berta Almoguera, et al.
Plos One|September 17, 2013
IBC CARe microarray allelic population prevalences in an American Indian populationLyle G Best, Cindy M Anderson, Richa Saxena, et al.
Pharmacogenomics|December 3, 2010
Evaluating a newly developed pharmacogenetic array: screening in a Spanish populationBerta Almoguera, Rosa Riveiro-Alvarez, Belen Gomez-Dominguez, et al.
Pageof 7

Showing results (1-10 of 65) with videos related to

Sort By:
Pageof 7
International Journal of Molecular Sciences|February 11, 2016
Association between Genetic Polymorphisms and Response to Anti-TNFs in Patients with Inflammatory Bowel DiseaseRocío Prieto-Pérez, Berta Almoguera, Teresa Cabaleiro, et al.
Frontiers in Genetics|May 9, 2014
Assessing the functional consequence of loss of function variants using electronic medical record and large-scale genomics consortium effortsPatrick Sleiman, Jonathan Bradfield, Frank Mentch, et al.
Frontiers in Genetics|May 27, 2014
Imputation of TPMT defective alleles for the identification of patients with high-risk phenotypesBerta Almoguera, Lyam Vazquez, John J Connolly, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|March 20, 2024
A unique missense mutation in the RING domain impairs MID1 E3 ubiquitin ligase activity and localisation and is associated with uncommon Opitz Syndrome-like signsMartina Mascaro, Luigi D'Ambrosio, Elisa Lazzari, et al.
Movement Disorders Clinical Practice|February 19, 2025
Complex Multifocal Dystonia, Intellectual Disability, and Stereotypies Due to a Novel DYRK1A VariantLaura Santos Sánchez de Las Matas, Carlos Ordás, Berta Almoguera, et al.
Acta Neurologica Scandinavica|May 10, 2019
Drug-resistant epilepsy classified by a phenotyping algorithm associates with NTRK2Berta Almoguera, Emily McGinnis, Debra Abrams, et al.
American Journal of Medical Genetics. Part A|January 16, 2026
A Growth Chart for KBG SyndromeKaren J Low, Elena Martinez-Cayuelas, Berta Almoguera, et al.
Frontiers in Genetics|March 28, 2014
Copy number variation analysis in the context of electronic medical records and large-scale genomics consortium effortsJohn J Connolly, Joseph T Glessner, Berta Almoguera, et al.
Plos One|September 17, 2013
IBC CARe microarray allelic population prevalences in an American Indian populationLyle G Best, Cindy M Anderson, Richa Saxena, et al.
Pharmacogenomics|December 3, 2010
Evaluating a newly developed pharmacogenetic array: screening in a Spanish populationBerta Almoguera, Rosa Riveiro-Alvarez, Belen Gomez-Dominguez, et al.
Pageof 7