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Trujillano, Daniel
42
results:
Search for persons
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Format
Online (42)
Mediatypes
Articles (Online) (17)
Bookchapter (Online) (2)
OpenAccess-fulltext (23)
Languages
english (40)
spanish (2)
Sorted by: Relevance
Sorted by: Year
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1
Clinical Exome Sequencing unravels new disease-causing muta..:
Al-Dewik, Nader
;
Ben-Omran, Tawfeg
;
Zayed, Hatem
...
Gene. 689 (2019) - p. 34-42 , 2019
Link:
https://doi.org/10.1016/..
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2
NovelGNB1mutations disrupt assembly and function of G prote..:
Lohmann, Katja
;
Masuho, Ikuo
;
Patil, Dipak N.
...
Human Molecular Genetics. , 2017
Link:
https://doi.org/10.1093/..
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3
Clinical exome sequencing: results from 2819 samples reflec..:
Trujillano, Daniel
;
Bertoli-Avella, Aida M
;
Kumar Kandaswamy, Krishna
...
European Journal of Human Genetics. 25 (2016) 2 - p. 176-182 , 2016
Link:
https://doi.org/10.1038/..
?
4
A comprehensive global genotype-phenotype database for rare..:
Trujillano, Daniel
;
Oprea, Gabriela-Elena
;
Schmitz, Yvonne
...
Molecular Genetics & Genomic Medicine. 5 (2016) 1 - p. 66-75 , 2016
Link:
https://doi.org/10.1002/..
?
5
Contribution of theTTC21Bgene to glomerular and cystic kidn..:
Bullich, Gemma
;
Vargas, Iván
;
Trujillano, Daniel
...
Nephrology Dialysis Transplantation. , 2016
Link:
https://doi.org/10.1093/..
?
6
Homozygous deletion of exons 2 and 3 of NPC2 associated wit..:
Hebbar, Malavika
;
Prasada L, Harsha
;
Bhowmik, Aneek Das
...
American Journal of Medical Genetics Part A. 170 (2016) 9 - p. 2486-2489 , 2016
Link:
https://doi.org/10.1002/..
?
7
OP-071 Mutations in ARHGAP24 Encoding Filgap as a Cause of ..:
Schott, Jean Jacques
;
Rimbert, Antoine
;
Duval, Damien
...
The American Journal of Cardiology. 115 (2015) - p. S31 , 2015
Link:
https://doi.org/10.1016/..
?
8
Validation of a semiconductor next-generation sequencing as..:
Trujillano, Daniel
;
Weiss, Maximilian E. R.
;
Köster, Julia
...
Molecular Genetics & Genomic Medicine. 3 (2015) 5 - p. 396-403 , 2015
Link:
https://doi.org/10.1002/..
?
9
Mutations in DCHS1 cause mitral valve prolapse:
Durst, Ronen
;
Sauls, Kimberly
;
Peal, David S.
...
Nature. 525 (2015) 7567 - p. 109-113 , 2015
Link:
https://doi.org/10.1038/..
?
10
0077 : DOCK1 a new candidate gene in inherited form of mitr..:
Rimbert, Antoine
;
Kyndt, Florence
;
Lecointe, Simon
...
Archives of Cardiovascular Diseases Supplements. 7 (2015) 2 - p. 205 , 2015
Link:
https://doi.org/10.1016/..
?
11
Diagnosis of autosomal dominant polycystic kidney disease u..:
Trujillano, Daniel
;
Bullich, Gemma
;
Ossowski, Stephan
...
Molecular Genetics & Genomic Medicine. 2 (2014) 5 - p. 412-421 , 2014
Link:
https://doi.org/10.1002/..
?
12
KLHL3 mutations cause familial hyperkalemic hypertension by..:
International Consortium for Blood Pressure (ICBP)
;
Louis-Dit-Picard, Hélène
;
Barc, Julien
...
Nature Genetics. 44 (2012) 4 - p. 456-460 , 2012
Link:
https://doi.org/10.1038/..
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13
Erratum: KLHL3 mutations cause familial hyperkalemic hypert..:
Louis-Dit-Picard, Hélène
;
Barc, Julien
;
Trujillano, Daniel
...
Nature Genetics. 44 (2012) 5 - p. 609-609 , 2012
Link:
https://doi.org/10.1038/..
?
14
Long Noncoding RNAs, Chromatin, and Development:
Caley, Daniel P.
;
Pink, Ryan C.
;
Trujillano, Daniel
.
The Scientific World JOURNAL. 10 (2010) - p. 90-102 , 2010
Link:
https://doi.org/10.1100/..
?
15
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...
1-15