E-LIB Suche - Ergebnisse für: Trujillano, Daniel

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/..

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/..

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

Contribution of theTTC21Bgene to glomerular and cystic kidn..:

Bullich, Gemma ; Vargas, Iván ; Trujillano, Daniel...
Nephrology Dialysis Transplantation. , 2016

Link: https://doi.org/10.1093/..

5

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/..

6

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/..

7

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/..

8

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/..

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

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/..

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/..

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...