E-LIB Suche - Ergebnisse für: Shieh, Joseph T

1

Heterozygous nonsense variants in the ferritin heavy-chain ..:

Shieh, Joseph T. ; Tintos-Hernandez, Jesus A. ; Murali, Chaya N....
Human Genetics and Genomics Advances. 4 (2023) 4 - p. 100236 , 2023

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

2

Lymphatic disorders caused by mosaic, activating KRAS varia..:

Sheppard, Sarah E. ; March, Michael E. ; Seiler, Christoph...
JCI Insight. 8 (2023) 9 - p. , 2023

Link: https://doi.org/10.1172/..

3

Common genetic variation associated with Mendelian disease ..:

Blair, David R. ; Hoffmann, Thomas J. ; Shieh, Joseph T.
Nature Communications. 13 (2022) 1 - p. , 2022

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

4

De novo heterozygous variants in SLC30A7 are a candidate ca..:

Penon‐Portmann, Monica ; Eldomery, Mohammad K. ; Potocki, Lorraine...
American Journal of Medical Genetics Part A. 188 (2022) 8 - p. 2360-2366 , 2022

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

5

Platelet VPS16B is dependent on VPS33B expression, as deter..:

Penon‐Portmann, Monica ; Westbury, Sarah K. ; Li, Ling...
Journal of Thrombosis and Haemostasis. 20 (2022) 7 - p. 1712-1719 , 2022

Link: https://doi.org/10.1111/..

6

Application of full-genome analysis to diagnose rare monoge..:

Shieh, Joseph T. ; Penon-Portmann, Monica ; Wong, Karen H. Y....
npj Genomic Medicine. 6 (2021) 1 - p. , 2021

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

7

Publisher Correction: Application of full-genome analysis t..:

Shieh, Joseph T. ; Penon-Portmann, Monica ; Wong, Karen H. Y....
npj Genomic Medicine. 6 (2021) 1 - p. , 2021

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

8

Segmental overgrowth and aneurysms due to mosaic PDGFRB p.(..:

Chenbhanich, Jirat ; Hu, Yan ; Hetts, Steven...
American Journal of Medical Genetics Part A. 185 (2021) 5 - p. 1430-1436 , 2021

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

9

Optimizing genetics online resources for diverse readers:

Chang, Jiyoo ; Penon-Portmann, Monica ; Shieh, Joseph T.
Genetics in Medicine. 22 (2020) 3 - p. 640-645 , 2020

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

10

Genetics workforce: distribution of genetics services and c..:

Penon-Portmann, Monica ; Chang, Jiyoo ; Cheng, Mira.
Genetics in Medicine. 22 (2020) 1 - p. 227-231 , 2020

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

11

Genotype–phenotype correlation at codon 1740 ofSETD2:

Rabin, Rachel ; Radmanesh, Alireza ; Glass, Ian A....
American Journal of Medical Genetics Part A. 182 (2020) 9 - p. 2037-2048 , 2020

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

12

Extracutaneous manifestations in phacomatosis cesioflammea ..:

Kumar, Akash ; Zastrow, Diane B. ; Kravets, Elijah J....
American Journal of Medical Genetics Part A. 179 (2019) 6 - p. 966-977 , 2019

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

13

X‐linked duplication copy number variation in a familial ov..:

Ha, Thoa K. ; Mardy, Anne H. ; Beleford, Daniah...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 181 (2019) 4 - p. 644-649 , 2019

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

14

A novel truncating variant in ring finger protein 113A (RNF..:

Mendelsohn, Bryce A. ; Beleford, Daniah T. ; Abu‐El‐Haija, Aya...
American Journal of Medical Genetics Part A. 182 (2019) 3 - p. 513-520 , 2019

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

15

Case Report of Floating-Harbor Syndrome With Bilateral Clef..:

Ko, Jaemin ; Pomerantz, Jason H. ; Perry, Hazel...
The Cleft Palate-Craniofacial Journal. 57 (2019) 1 - p. 132-136 , 2019

Link: https://doi.org/10.1177/..