E-LIB Suche - Ergebnisse für: Penon-Portmann, Monica

1

Velmanase alfa approved for treatment of non-central nervou..:

Lander, Julie M. ; Penon-Portmann, Monica ; Sutton, V. Reid.
Genetics in Medicine Open. 2 (2024) - p. 101832 , 2024

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

2

Current and new therapies for mucopolysaccharidoses:

Penon-Portmann, Monica ; Blair, David R. ; Harmatz, Paul
Pediatrics & Neonatology. 64 (2023) - p. S10-S17 , 2023

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

3

Olipudase alfa approved for pediatric and adult patients wi..:

Penon-Portmann, Monica ; Poskanzer, Sheri A. ; Ganesh, Jaya.
Genetics in Medicine Open. 1 (2023) 1 - p. 100780 , 2023

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

4

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/..

5

Exome Sequencing Identifies a Novel SIN3A Variant in a Pati..:

Penon-Portmann, Monica ; Carlston, Colleen M. ; Martin, Pierre-Marie.
Molecular Syndromology. , 2022

Link: https://doi.org/10.1159/..

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

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/..

9

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/..

10

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

Shieh, Joseph T ; Tintos-Hernandez, Jesus A ; Murali, Chaya N...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10510067/. , 2023

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

11

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

Shieh, Joseph T ; Tintos-Hernandez, Jesus A ; Murali, Chaya N...
qt1rs9t60h. , 2023

Link: https://escholarship.org..

12

Exome Sequencing Identifies a Novel SIN3A Variant in a Pati..:

Penon-Portmann, Monica ; Carlston, Colleen M ; Martin, Pierre-Marie.
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9421682/. , 2022

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

13

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

Penon-Portmann, Monica ; Westbury, Sarah K ; Li, Ling...
Penon-Portmann , M , Westbury , S K , Li , L , Pluthero , F G , Liu , R J Y L , Yao , H H Y , Kahr , W H A & et , A 2022 , ' Platelet VPS16B is dependent on VPS33B expression, as determined in two siblings with arthrogryposis, renal dysfunction, and cholestasis syndrome ' , Journal of Thrombosis and Haemostasis , vol. 20 , no. 7 , pp. 1712-1719 . https://doi.org/10.1111/jth.15711. , 2022

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

14

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

Penon-Portmann, Monica ; Eldomery, Mohammad K ; Potocki, Lorraine...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9756141/. , 2022

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

15

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

Shieh, Joseph T ; Penon-Portmann, Monica ; Wong, Karen H. Y...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8511154/. , 2021

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