E-LIB Suche - Ergebnisse für: Hostyk, Joseph A.

1

A whole exome sequencing study to identify rare variants in..:

Hill, Shirley Y. ; Hostyk, Joseph
Frontiers in Psychiatry. 14 (2023) - p. , 2023

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

2

Whole exome sequencing reveals potentially pathogenic varia..:

Cohen, Adi ; Hostyk, Joseph ; Baugh, Evan H....
Bone. 154 (2022) - p. 116253 , 2022

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

3

Genomic analysis of "microphenotypes" in epilepsy:

Stanley, Kate ; Hostyk, Joseph ; Tran, Linh...
American Journal of Medical Genetics Part A. 188 (2021) 1 - p. 138-146 , 2021

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

4

Serine biosynthesis defect due to haploinsufficiency of PHG..:

Eade, Kevin ; Gantner, Marin L. ; Hostyk, Joseph A....
Nature Metabolism. 3 (2021) 3 - p. 366-377 , 2021

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

5

Whole exome sequencing across clinical specialties within a..:

Lippa, Natalie ; Bier, Louise ; Revah-Politi, Anya...
Molecular Genetics and Metabolism. 132 (2021) - p. S226-S227 , 2021

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

6

The Epilepsy Genetics Initiative: a final summary:

Kushary, Sulagna (Tina) ; Bier, Louise ; Lippa, Natalie...
Molecular Genetics and Metabolism. 132 (2021) - p. S243 , 2021

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

7

ATAV: a comprehensive platform for population-scale genomic..:

Ren, Zhong ; Povysil, Gundula ; Hostyk, Joseph A....
BMC Bioinformatics. 22 (2021) 1 - p. , 2021

Link: https://doi.org/10.1186/..

8

A whole exome sequencing study to identify rare variants in..:

Hill, Shirley Y ; Hostyk, Joseph
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10616827/. , 2023

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

9

Genomic analysis of "microphenotypes" in epilepsy:

Stanley, Kate ; Hostyk, Joseph ; Tran, Lanh T...
uri/info:doi/10.1002/ajmg.a.62505. , 2022

Link: http://hdl.handle.net/20..

10

Risk Variants in the Exomes of Children With Critical Illne..:

Motelow, Joshua E ; Lippa, Natalie C ; Hostyk, Joseph...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9617179/. , 2022

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

11

ATAV: a comprehensive platform for population-scale genomic..:

Ren, Zhong ; Povysil, Gundula ; Hostyk, Joseph A...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7988908/. , 2021

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

12

Whole Exome Sequencing Reveals Potentially Pathogenic Varia..:

Cohen, Adi ; Hostyk, Joseph ; Baugh, Evan H...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8671293/. , 2021

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

13

A framework for the investigation of rare genetic disorders..:

Sanders, Stephan J ; Sahin, Mustafa ; Hostyk, Joseph...
http://dx.doi.org/10.1038/s41591-019-0581-5. , 2021

Link: https://hdl.handle.net/1..

14

ATAV: a comprehensive platform for population-scale genomic..:

Ren, Zhong ; Povysil, Gundula ; Hostyk, Joseph A...
https://doi.org/10.7916/yaa2-qy53. , 2021

Link: https://doi.org/10.7916/..

15

Serine biosynthesis defect due to haploinsufficiency of PHG..:

Eade, Kevin ; Gantner, Marin L ; Hostyk, Joseph A...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8084205/. , 2021

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