E-LIB Suche - Ergebnisse für: Trujillano, Daniel

1

Clinical exome sequencing: results from 2819 samples reflec..:

Trujillano, Daniel ; Bertoli-Avella, Aida M ; Kumar Kandaswamy, Krishna...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5255946/. , 2017

Link: http://www.ncbi.nlm.nih...

2

Homozygous Deletion of Exons 2 and 3 of NPC2 Associated wit..:

Hebbar, Malavika ; Prasada L, Harsha ; Bhowmik, Aneek Das...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6422680/. , 2016

Link: http://www.ncbi.nlm.nih...

3

A comprehensive global genotype–phenotype database for rare..:

Trujillano, Daniel ; Oprea, Gabriela‐Elena ; Schmitz, Yvonne...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5241210/. , 2016

Link: http://www.ncbi.nlm.nih...

4

Whole Exome Sequencing in a Rare Disease: A Patient with An..:

Hekim, Nezih ; Batyraliev, Talantbek ; Trujillano, Daniel...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4876547/. , 2016

Link: http://www.ncbi.nlm.nih...

5

Whole exome sequencing in a rare disease: A patient with an..:

Hekim, Nezih ; Batyraliev, Talantbek ; Trujillano, Daniel...
Omics-A Journal of Integrative Biology. , 2016

Link: https://hdl.handle.net/2..

6

Mutations in DCHS1 cause mitral valve prolapse:

Durst, Ronen ; Sauls, Kimberly ; Peal, David S...
info:eu-repo/semantics/altIdentifier/doi/10.1038/nature14670. , 2015

Link: https://hal.science/hal-..

7

Mutations in DCHS1 Cause Mitral Valve Prolapse:

Durst, Ronen ; Sauls, Kimberly ; Peal, David S...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4720389/. , 2015

Link: http://www.ncbi.nlm.nih...

8

Asparagine Synthetase Deficiency: New Inborn Errors of Meta..:

Alfadhel, Majid ; Alrifai, Muhammad Talal ; Trujillano, Daniel...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4486270/. , 2015

Link: http://www.ncbi.nlm.nih...

9

Mutations in DCHS1 cause mitral valve prolapse:

Durst, Ronen ; Sauls, Kimberly ; Peal, David S...
info:eu-repo/semantics/altIdentifier/doi/10.1038/nature14670. , 2015

Link: https://hal.archives-ouv..

10

Mutations in DCHS1 cause mitral valve prolapse:

Durst, Ronen ; Sauls, Kimberly ; Peal, David S...
info:eu-repo/semantics/altIdentifier/doi/10.1038/nature14670. , 2015

Link: https://hal.science/hal-..

11

Mutations in DCHS1 cause mitral valve prolapse:

Durst, Ronen ; Sauls, Kimberly ; Peal, David S...
info:eu-repo/semantics/altIdentifier/doi/10.1038/nature14670. , 2015

Link: https://hal.science/hal-..

12

Mutations in DCHS1 cause mitral valve prolapse:

Durst, Ronen ; Sauls, Kimberly ; Peal, David S...
info:eu-repo/semantics/altIdentifier/doi/10.1038/nature14670. , 2015

Link: https://hal.science/hal-..

13

Targeted next-generation sequencing in steroid-resistant ne..:

Bullich Vilanova, Gemma ; Trujillano, Daniel ; Santín, Sheila...
Ministerio de Ciencia e Innovación SAF2008-00357. , 2014

Link: https://ddd.uab.cat/reco..

14

Diagnosis of autosomal dominant polycystic kidney disease u..:

Trujillano, Daniel ; Bullich, Gemma ; Ossowski, Stephan...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC. , 2014

Link: http://www.ncbi.nlm.nih...

15

Accurate molecular diagnosis of phenylketonuria and tetrahy..:

Trujillano, Daniel ; Perez, Belén ; González, Justo...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC. , 2014

Link: http://www.ncbi.nlm.nih...