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Trujillano, Daniel
23
results:
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english (21)
spanish (2)
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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...
1-15