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Daniel Trujillano

Showing results (11-20 of 17) with videos related to

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Omics : a Journal of Integrative Biology|May 20, 2016
Whole Exome Sequencing in a Rare Disease: A Patient with Anomalous Left Coronary Artery from the Pulmonary Artery (Bland-White-Garland Syndrome)Nezih Hekim, Talantbek Batyraliev, Daniel Trujillano, et al.
Molecular Genetics & Genomic Medicine|October 6, 2015
Validation of a semiconductor next-generation sequencing assay for the clinical genetic screening of CFTRDaniel Trujillano, Maximilian E R Weiss, Julia Köster, et al.
Human Molecular Genetics|January 15, 2017
Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humansKatja Lohmann, Ikuo Masuho, Dipak N Patil, et al.
European Journal of Human Genetics : EJHG|November 17, 2016
Clinical exome sequencing: results from 2819 samples reflecting 1000 familiesDaniel Trujillano, Aida M Bertoli-Avella, Krishna Kumar Kandaswamy, et al.
Nature Genetics|March 13, 2012
KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephronHélène Louis-Dit-Picard, Julien Barc, Daniel Trujillano, et al.
Medrxiv : the Preprint Server for Health Sciences|November 1, 2024
Isolated prolapse of the posterior mitral valve leaflet: phenotypic refinement, heritability and genetic etiologyAntoine Rimbert, Damien Duval, Daniel Trujillano, et al.
Nature|August 11, 2015
Mutations in DCHS1 cause mitral valve prolapseRonen Durst, Kimberly Sauls, David S Peal, et al.
Pageof 2

Showing results (11-20 of 17) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 17 results.
Omics : a Journal of Integrative Biology|May 20, 2016
Whole Exome Sequencing in a Rare Disease: A Patient with Anomalous Left Coronary Artery from the Pulmonary Artery (Bland-White-Garland Syndrome)Nezih Hekim, Talantbek Batyraliev, Daniel Trujillano, et al.
Molecular Genetics & Genomic Medicine|October 6, 2015
Validation of a semiconductor next-generation sequencing assay for the clinical genetic screening of CFTRDaniel Trujillano, Maximilian E R Weiss, Julia Köster, et al.
Human Molecular Genetics|January 15, 2017
Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humansKatja Lohmann, Ikuo Masuho, Dipak N Patil, et al.
European Journal of Human Genetics : EJHG|November 17, 2016
Clinical exome sequencing: results from 2819 samples reflecting 1000 familiesDaniel Trujillano, Aida M Bertoli-Avella, Krishna Kumar Kandaswamy, et al.
Nature Genetics|March 13, 2012
KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephronHélène Louis-Dit-Picard, Julien Barc, Daniel Trujillano, et al.
Medrxiv : the Preprint Server for Health Sciences|November 1, 2024
Isolated prolapse of the posterior mitral valve leaflet: phenotypic refinement, heritability and genetic etiologyAntoine Rimbert, Damien Duval, Daniel Trujillano, et al.
Nature|August 11, 2015
Mutations in DCHS1 cause mitral valve prolapseRonen Durst, Kimberly Sauls, David S Peal, et al.
Pageof 2