E-LIB Suche - Ergebnisse für: Vidal-Folch, Noemi

1

SMN1 c.5C>G (p.Ala2Gly) missense variant, a challenging mol..:

Cook, Sara L. ; Stout, Christian ; Kirkeby, Lindsey...
Frontiers in Genetics. 15 (2024) - p. , 2024

Link: https://doi.org/10.3389/..

2

Confirmation of Insertion, Deletion, and Deletion-Insertion..:

Choate, Lauren A ; Koleilat, Alaa ; Harris, Kimberley...
Clinical Chemistry. 69 (2023) 10 - p. 1155-1162 , 2023

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

3

P444: SMA carrier screening utilizing SNP array technology ..:

Vidal-Folch, Noemi ; Winters, Jennifer ; Oglesbee, Devin..
Genetics in Medicine Open. 1 (2023) 1 - p. 100491 , 2023

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

4

30. A cost-effective bioinformatics triage strategy for tes..:

Shen, Wei ; Koganti, Tejaswi ; Balan, Jagadheshwar...
Cancer Genetics. 260-261 (2022) - p. 10-11 , 2022

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

5

Unbiased machine learning methods to predict the limitation..:

Li, Feng ; Gnanaolivu, Rohan ; Vidal-Folch, Noemi...
Molecular Genetics and Metabolism. 132 (2021) - p. S250-S252 , 2021

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

6

A tailored approach to fusion transcript identification inc..:

Oliver, Gavin R. ; Tang, Xiaojia ; Schultz-Rogers, Laura E....
PLOS ONE. 14 (2019) 10 - p. e0223337 , 2019

Link: https://doi.org/10.1371/..

7

Applying Standard Clinical Chemistry Assay Validation to Dr..:

Grebe, Stefan K G ; Kipp, Benjamin R ; Liu, Minetta C...
Clinical Chemistry. 64 (2018) 12 - p. 1732-1742 , 2018

Link: https://doi.org/10.1373/..

8

Multiplex Droplet Digital PCR Method Applicable to Newborn ..:

Oglesbee, Devin ; Matern, Dietrich ; Tortorelli, Silvia...
Clinical Chemistry. 64 (2018) 12 - p. 1753-1761 , 2018

Link: https://doi.org/10.1373/..

9

Individualized correction of neuron-specific enolase (NSE) ..:

Tolan, Nicole V. ; Vidal-Folch, Noemi ; Algeciras-Schimnich, Alicia..
Clinica Chimica Acta. 424 (2013) - p. 216-221 , 2013

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

10

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/..

11

Rapid and Direct Detection of Congenital Cytomegalovirus Us..:

Fernholz, Emily C ; Vidal-Folch, Noemi ; Hasadsri, Linda
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10035318/. , 2023

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

12

m.3243A > G-Induced Mitochondrial Dysfunction Impairs Human..:

Klein Gunnewiek, Teun M. ; Van Hugte, Eline J.H. ; Frega, Monica...
Cell Reports. 31 (2020) 3 - p. 107538 , 2020

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

13

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...

14

P444: SMA carrier screening utilizing SNP array technology ..:

Noemi Vidal-Folch ; Jennifer Winters ; Devin Oglesbee..
http://www.sciencedirect.com/science/article/pii/S2949774423004910. , 2023

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

15

m.3243A > G-Induced Mitochondrial Dysfunction Impairs Human..:

Teun M. Klein Gunnewiek ; Eline J.H. Van Hugte ; Monica Frega...
http://www.sciencedirect.com/science/article/pii/S2211124720304381. , 2020

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