E-LIB Suche - Ergebnisse für: Lundquist, Patrick

1

P742: Assessing stability of frozen samples for Bionano opt..:

Cook, Sara ; Lauer, Emily ; Lundquist, Patrick...
Genetics in Medicine Open. 2 (2024) - p. 101646 , 2024

Link: https://doi.org/10.1016/..

2

P442: Confirmation of complex events detected by NGS:

Choate, Lauren ; McDonald, Amber ; Lundquist, Patrick...
Genetics in Medicine Open. 1 (2023) 1 - p. 100489 , 2023

Link: https://doi.org/10.1016/..

3

Aminoglycoside induced ototoxicity risk in the cystic fibro..:

Lopes, Jaime ; Vidal‐Folch, Noemi ; Lundquist, Patrick...
Pediatric Pulmonology. 58 (2022) 3 - p. 819-824 , 2022

Link: https://doi.org/10.1002/..

4

Development and Validation of a Next-Generation Sequencing ..:

Boczek, Nicole J ; Hasadsri, Linda ; Schimmenti, Lisa...
The Journal of Applied Laboratory Medicine. 5 (2020) 3 - p. 467-479 , 2020

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

5

A novel deletion of SNURF/SNRPN exon 1 in a patient with Pr..:

Cao, Yang ; AlHumaidi, Susan S. ; Faqeih, Eissa A....
European Journal of Medical Genetics. 60 (2017) 8 - p. 416-420 , 2017

Link: https://doi.org/10.1016/..

6

Target-Enrichment Sequencing and Copy Number Evaluation in ..:

Klein, Christopher ; Wang, Wei ; Wang, Chen...
Neurology. 86 (2016) 16_supplement - p. , 2016

Link: https://doi.org/10.1212/..

7

Target-enrichment sequencing and copy number evaluation in ..:

Wang, Wei ; Wang, Chen ; Dawson, D. Brian...
Neurology. 86 (2016) 19 - p. 1762-1771 , 2016

Link: https://doi.org/10.1212/..

8

Does parent of origin matter? Methylation studies should be..:

Aypar, Umut ; Brodersen, Pamela R. ; Lundquist, Patrick A....
American Journal of Medical Genetics Part A. 164 (2014) 10 - p. 2514-2520 , 2014

Link: https://doi.org/10.1002/..

9

Development and validation of a comprehensive mutation and ..:

Milosevic, Dragana ; Lundquist, Patrick ; Cradic, Kendall...
Clinical Biochemistry. 43 (2010) 7-8 - p. 700-704 , 2010

Link: https://doi.org/10.1016/..

10

Global variability analysis of mRNA and protein concentrati..:

Wegler, Christine ; Ölander, Magnus ; Wisniewski, JR...
http://urn.nb.no/URN:NBN:no-85718. , 2019

Link: http://hdl.handle.net/10..

11

Target-enrichment sequencing and copy number evaluation in ..:

Wang, Wei ; Wang, Chen ; Dawson, D. Brian...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4862246/. , 2016

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

12

Development and Validation of a comprehensive mutation and ..:

Milosevic, Dragana ; Lundquist, Patrick ; Cradic, Kendall...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3419008. , 2010

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

13

Characterization Of Large Rearrangements In Autosomal Domin..:

Consugar, Mark B ; Wong, Wai C ; Lundquist, Patrick A...
10.1038/ki.2008.485. , 2008

Link: http://hdl.handle.net/11..

14

Characterization of large rearrangements in autosomal domin..:

Rangel, Laureano J ; Walker, Denise L ; Rossetti, Sandro...
d8305621-3678-4d86-85e0-6696ce393f33. , 2008

Link: https://doi.org/10.1038/..

15

Characterization of large rearrangements in autosomal domin..:

Consugar, Mark B ; Wong, Wai C ; Lundquist, Patrick A...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2756756. , 2008

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