E-LIB Suche - Ergebnisse für: Sicko, Robert J.

1

P594: Reducing disparities in cystic fibrosis newborn scree..:

Kay, Denise ; Kim, Christina ; Sicko, Robert...
Genetics in Medicine Open. 2 (2024) - p. 101500 , 2024

2

Method modification to reduce false positives for newborn s..:

Wojcik, Matthew ; Morrissey, Mark ; Borden, Kimberly...
Molecular Genetics and Metabolism. 135 (2022) 3 - p. 186-192 , 2022

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

3

Exome sequencing of child–parent trios with bladder exstrop..:

Pitsava, Georgia ; Feldkamp, Marcia L. ; Pankratz, Nathan...
American Journal of Medical Genetics Part A. 185 (2021) 10 - p. 3028-3041 , 2021

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

4

Validation of a Custom Next-Generation Sequencing Assay for..:

Sicko, Robert J. ; Stevens, Colleen F. ; Hughes, Erin E....
International Journal of Neonatal Screening. 7 (2021) 4 - p. 73 , 2021

Link: https://doi.org/10.3390/..

5

Rare copy number variants identified in prune belly syndrom:

Boghossian, Nansi S. ; Sicko, Robert J. ; Giannakou, Andreas...
European Journal of Medical Genetics. 61 (2018) 3 - p. 145-151 , 2018

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

6

Copy number variants in hypoplastic right heart syndrome:

Giannakou, Andreas ; Sicko, Robert J. ; Kay, Denise M....
American Journal of Medical Genetics Part A. 176 (2018) 12 - p. 2760-2767 , 2018

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

7

Copy-number variants and candidate gene mutations in isolat..:

Carter, Tonia C ; Sicko, Robert J ; Kay, Denise M...
Journal of Human Genetics. 62 (2017) 10 - p. 877-884 , 2017

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

8

Copy number variants in Ebstein anomaly:

Giannakou, Andreas ; Sicko, Robert J. ; Zhang, Wei...
PLOS ONE. 12 (2017) 12 - p. e0188168 , 2017

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

9

Copy-number variant analysis of classic heterotaxy highligh..:

Hagen, Erin M. ; Sicko, Robert J. ; Kay, Denise M....
Human Genetics. 135 (2016) 12 - p. 1355-1364 , 2016

Link: https://doi.org/10.1007/..

10

Copy number variants in a population‐based investigation of..:

Dimopoulos, Aggeliki ; Sicko, Robert J. ; Kay, Denise M....
American Journal of Medical Genetics Part A. 173 (2016) 2 - p. 352-359 , 2016

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

11

Genetic Variants in Isolated Ebstein Anomaly Implicated in ..:

Sicko, Robert J. ; Browne, Marilyn L. ; Rigler, Shannon L....
PLOS ONE. 11 (2016) 10 - p. e0165174 , 2016

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

12

Rare copy number variants implicated in posterior urethral ..:

Boghossian, Nansi S. ; Sicko, Robert J. ; Kay, Denise M....
American Journal of Medical Genetics Part A. 170 (2015) 3 - p. 622-633 , 2015

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

13

Novel copy-number variants in a population-based investigat..:

Rigler, Shannon L. ; Kay, Denise M. ; Sicko, Robert J....
Genetics in Medicine. 17 (2015) 5 - p. 348-357 , 2015

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

14

Validation of a Custom Next-Generation Sequencing Assay for..:

Sicko, Robert J ; Stevens, Colleen F ; Hughes, Erin E...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8628990/. , 2021

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

15

A genome-wide association study implicates the BMP7 locus a..:

Justice, Cristina M ; Cuellar, Araceli ; Bala, Krithi...
qt1t8353x3. , 2020

Link: https://escholarship.org..