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Daniel Trujillano

Showing results (1-10 of 17) with videos related to

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Thescientificworldjournal|January 12, 2010
Long noncoding RNAs, chromatin, and developmentDaniel P Caley, Ryan C Pink, Daniel Trujillano, et al.
Molecular Genetics & Genomic Medicine|October 22, 2014
Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencingDaniel Trujillano, Gemma Bullich, Stephan Ossowski, et al.
Molecular Genetics & Genomic Medicine|January 25, 2017
A comprehensive global genotype-phenotype database for rare diseasesDaniel Trujillano, Gabriela-Elena Oprea, Yvonne Schmitz, et al.
Gene|December 17, 2018
Clinical Exome Sequencing unravels new disease-causing mutations in the myeloproliferative neoplasms: A pilot study in patients from the state of QatarNader Al-Dewik, Tawfeg Ben-Omran, Hatem Zayed, et al.
The Journal of Molecular Diagnostics : JMD|January 6, 2015
Next-generation sequencing of the BRCA1 and BRCA2 genes for the genetic diagnostics of hereditary breast and/or ovarian cancerDaniel Trujillano, Maximilian E R Weiss, Juliane Schneider, et al.
European Journal of Human Genetics : EJHG|November 20, 2014
Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severityGemma Bullich, Daniel Trujillano, Sheila Santín, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|March 5, 2016
Contribution of the TTC21B gene to glomerular and cystic kidney diseasesGemma Bullich, Iván Vargas, Daniel Trujillano, et al.
European Journal of Human Genetics : EJHG|August 15, 2013
Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencingDaniel Trujillano, Belén Perez, Justo González, et al.
JIMD Reports|February 10, 2015
Asparagine Synthetase Deficiency: New Inborn Errors of MetabolismMajid Alfadhel, Muhammad Talal Alrifai, Daniel Trujillano, et al.
American Journal of Medical Genetics. Part A|June 9, 2016
Homozygous deletion of exons 2 and 3 of NPC2 associated with Niemann-Pick disease type CMalavika Hebbar, Harsha Prasada L, Aneek Das Bhowmik, et al.
Pageof 2

Showing results (1-10 of 17) with videos related to

Sort By:
Pageof 2
Thescientificworldjournal|January 12, 2010
Long noncoding RNAs, chromatin, and developmentDaniel P Caley, Ryan C Pink, Daniel Trujillano, et al.
Molecular Genetics & Genomic Medicine|October 22, 2014
Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencingDaniel Trujillano, Gemma Bullich, Stephan Ossowski, et al.
Molecular Genetics & Genomic Medicine|January 25, 2017
A comprehensive global genotype-phenotype database for rare diseasesDaniel Trujillano, Gabriela-Elena Oprea, Yvonne Schmitz, et al.
Gene|December 17, 2018
Clinical Exome Sequencing unravels new disease-causing mutations in the myeloproliferative neoplasms: A pilot study in patients from the state of QatarNader Al-Dewik, Tawfeg Ben-Omran, Hatem Zayed, et al.
The Journal of Molecular Diagnostics : JMD|January 6, 2015
Next-generation sequencing of the BRCA1 and BRCA2 genes for the genetic diagnostics of hereditary breast and/or ovarian cancerDaniel Trujillano, Maximilian E R Weiss, Juliane Schneider, et al.
European Journal of Human Genetics : EJHG|November 20, 2014
Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severityGemma Bullich, Daniel Trujillano, Sheila Santín, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|March 5, 2016
Contribution of the TTC21B gene to glomerular and cystic kidney diseasesGemma Bullich, Iván Vargas, Daniel Trujillano, et al.
European Journal of Human Genetics : EJHG|August 15, 2013
Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencingDaniel Trujillano, Belén Perez, Justo González, et al.
JIMD Reports|February 10, 2015
Asparagine Synthetase Deficiency: New Inborn Errors of MetabolismMajid Alfadhel, Muhammad Talal Alrifai, Daniel Trujillano, et al.
American Journal of Medical Genetics. Part A|June 9, 2016
Homozygous deletion of exons 2 and 3 of NPC2 associated with Niemann-Pick disease type CMalavika Hebbar, Harsha Prasada L, Aneek Das Bhowmik, et al.
Pageof 2