Olga Jarinova: search on Z-Library

The world's largest scientific articles store. 70,000,000+ articles for free.

Don't use scam websites

1

Regulatory variations in the era of next-generation sequencing: Implications for clinical molecular diagnostics

Olga Jarinova, Marc Ekker

Journal:

Year:

2012

Language:

english

File:

PDF, 202 KB

english, 2012

2

Lake Louise Mutation Detection Meeting 2013: Clinical Translation of Next-Generation Sequencing Requires Optimization of Workflows and Interpretation of Variants

Smith, Amanda, Boycott, Kym M., Jarinova, Olga

Journal:

Year:

2014

Language:

english

File:

PDF, 144 KB

english, 2014

3

17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD)

Armour, Christine M, Bulman, Dennis E, Jarinova, Olga, Rogers, Richard Curtis, Clarkson, Kate B, DuPont, Barbara R, Dwivedi, Alka, Bartel, Frank O, McDonell, Laura, Schwartz, Charles E, Boycott, Kym M

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 659 KB

english, 2011

4

Identification of a pathogenic FTO mutation by next-generation sequencing in a newborn with growth retardation and developmental delay

Daoud, Hussein, Zhang, Dong, McMurray, Fiona, Yu, Andrea, Luco, Stephanie M, Vanstone, Jason, Jarinova, Olga, Carson, Nancy, Wickens, James, Shishodia, Shifali, Choi, Hwanho, McDonough, Michael A, Sch

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 1.22 MB

english, 2015

5

Resolution of refractory hypotension and anuria in a premature newborn with loss-of-function of ACE

Richer, Julie, Daoud, Hussein, Geier, Pavel, Jarinova, Olga, Carson, Nancy, Feberova, Jana, Ben Fadel, Nadya, Unrau, Jennifer, Bareke, Eric, Khatchadourian, Karine, Bulman, Dennis E., Majewski, Jacek,

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 49 KB

english, 2015

6

Resolution of refractory hypotension and anuria in a premature newborn with loss-of-function of ACE

Richer, Julie, Daoud, Hussein, Geier, Pavel, Jarinova, Olga, Carson, Nancy, Feberova, Jana, Nadya, Ben Fadel, Unrau, Jennifer, Bareke, Eric, Khatchadourian, Karine, Bulman, Dennis E, Majewski, Jacek,

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 1.47 MB

english, 2015

7

Fragile X testing as a second-tier test

Hartley, Taila, Potter, Ryan, Badalato, Lauren, Smith, Amanda C, Jarinova, Olga, Boycott, Kym M

Journal:

Genetics in Medicine

Year:

2017

Language:

english

File:

PDF, 75 KB

english, 2017

8

Reinterpretation of sequence variants: one diagnostic laboratory’s experience, and the need for standard guidelines

Chisholm, Caitlin, Daoud, Hussein, Ghani, Mahdi, Mettler, Gabrielle, McGowan-Jordan, Jean, Sinclair-Bourque, Liz, Smith, Amanda, Jarinova, Olga

Journal:

Genetics in Medicine

Year:

2017

Language:

english

File:

PDF, 231 KB

english, 2017

9

MG-132 Next-generation sequencing in the neonatal intensive care unit: Pilot data from 12 newborns

Daoud, Hussein, Luco, Stephanie M, Li, Rui, Armour, Christine, Carson, Nancy, Jarinova, Olga, Nikkel, Sarah, Richer, Julie, Majewski, Jacek, Boycott, Kym, Dyment, David

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 54 KB

english, 2015

10

Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach

Harrison, Steven M., Dolinksy, Jill S., Chen, Wenjie, Collins, Christin D., Das, Soma, Deignan, Joshua L., Garber, Kathryn B., Garcia, John, Jarinova, Olga, Knight Johnson, Amy E., Koskenvuo, Juha W.,

Journal:

Year:

2018

Language:

english

File:

PDF, 918 KB

english, 2018

11

Implementation of Epilepsy Multi-gene Panel Testing in Ontario, Canada

Dyment, David A, Prasad, Asuri N., Boycott, Kym M., Ediae, Grace U., Hartley, Taila, Hassan, Ayman, Muir, Katherine E., Potter, Murray, Lomax, Lysa Boisse, Jarinova, Olga, Sadikovic, Bekim, Stavropoul

Journal:

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques

Year:

2019

Language:

english

File:

PDF, 327 KB

english, 2019

12

[IEEE 2019 IEEE EMBS International Conference on Biomedical & Health Informatics (BHI) - Chicago, IL, USA (2019.5.19-2019.5.22)] 2019 IEEE EMBS International Conference on Biomedical & Health Informatics (BHI) - Validation of bcbio-nextgen Pipeline Based on NextSeq500 Exome Sequencing

Pranckeviciene, Erinija, Potter, Ryan, Huang, Lijia, Jarinova, Olga

Year:

2019

Language:

english

File:

PDF, 130 KB

english, 2019

13

[IEEE 2019 IEEE EMBS International Conference on Biomedical & Health Informatics (BHI) - Chicago, IL, USA (2019.5.19-2019.5.22)] 2019 IEEE EMBS International Conference on Biomedical & Health Informatics (BHI) - Validation of bcbio-nextgen Pipeline Based on NextSeq500 Exome Sequencing

Pranckeviciene, Erinija, Potter, Ryan, Huang, Lijia, Jarinova, Olga

Year:

2019

File:

PDF, 130 KB

2019

14

Interplay between probe design and test performance: overlap between genomic regions of interest, capture regions and high quality reference calls influence performance of WES-based assays

Pranckeviciene, Erinija, Racacho, Lemuel, Ghani, Mahdi, Nfonsam, Landry, Potter, Ryan, Sinclair-Bourque, Elizabeth, Mettler, Gabrielle, Smith, Amanda, Bronicki, Lucas, Huang, Lijia, Jarinova, Olga

Journal:

Year:

2020

File:

PDF, 882 KB

2020

To build up a library is to create a life. It’s never just a random collection of books.

— Carlos María Domínguez

Official channel

Z-Library Desktop Launcher

Z-Library Since 2009 support@z-lib.do

EnglishРусскийEspañolItalianoελληνικάاللغة العربيةBahasa IndonesiaBahasa Malaysiaहिन्दीDeutschFrançaisPortuguêsУкраїнськаPolski中文繁體中文日本語Tiếng ViệtAzərbaycan DiliՀայոց լեզուภาษาไทยTürk Diliქართველიবাংলাپښتوతెలుగుاردو한국어SrpskiБългарски