E-LIB Suche - Ergebnisse für: Atwal, Paldeep

1

eP064: Consumer-initiated genetic testing identifies indivi..:

Williams, Nori ; Mahder, Jacquelyn ; Glessner, Heather...
Genetics in Medicine. 24 (2022) 3 - p. S42 , 2022

2

A complex case of delayed diagnosis of ornithine transcarba..:

Abbott, Jessica ; Senzatimore, Mia ; Atwal, Paldeep
Molecular Genetics and Metabolism Reports. 33 (2022) - p. 100916 , 2022

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

3

Phase 2/3 Clinical Trial Results: Safety & Efficacy Results..:

Fay, Alexander ; Adams, Darius ; Atwal, Paldeep...
Neurology. 98 (2022) 18_supplement - p. , 2022

Link: https://doi.org/10.1212/..

4

eP486: Demonstrating the utility of consumer initiated gene..:

Glessner, Heather Dean ; Williams, Nori ; King, Robin.
Genetics in Medicine. 24 (2022) 3 - p. S309-S310 , 2022

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

5

Does motivation for ordering consumer-initiated genetic tes..:

King, Robin ; Williams, Nori ; Atwal, Paldeep
Molecular Genetics and Metabolism. 132 (2021) - p. S175-S177 , 2021

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

6

What trends can we see with consumer-initiated testing orde..:

King, Robin ; Williams, Nori ; Atwal, Paldeep
Molecular Genetics and Metabolism. 132 (2021) - p. S358-S359 , 2021

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

7

Rare deleterious mutations of HNRNP genes result in shared ..:

Gillentine, Madelyn A. ; Wang, Tianyun ; Hoekzema, Kendra...
Genome Medicine. 13 (2021) 1 - p. , 2021

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

8

Post-test outreach: a valuable tool in the consumer-initiat..:

Glessner, Heather Dean ; Williams, Nori ; Fitzpatrick, Molly...
Molecular Genetics and Metabolism. 132 (2021) - p. S207-S208 , 2021

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

9

RT001 in Progressive Supranuclear Palsy—Clinical and In-Vit..:

Angelova, Plamena R. ; Andruska, Kristin M. ; Midei, Mark G....
Antioxidants. 10 (2021) 7 - p. 1021 , 2021

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

10

Treatment of infantile neuroaxonal dystrophy with RT001: A ..:

Adams, Darius ; Midei, Mark ; Dastgir, Jahannaz...
JIMD Reports. 54 (2020) 1 - p. 54-60 , 2020

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

11

Plasma and Red Blood Cell Membrane Accretion and Pharmacoki..:

Brenna, J. Thomas ; James, Genevieve ; Midei, Mark...
Journal of Pharmaceutical Sciences. 109 (2020) 11 - p. 3496-3503 , 2020

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

12

A Neurological Assessment Scale For Infantile Neuroaxonal D..:

Atwal, Paldeep ; Heerinckx, Frederic ; Midei, Mark.
Neurology. 94 (2020) 15_supplement - p. , 2020

Link: https://doi.org/10.1212/..

13

Family with brain calcification and SLC20A2 variant – possi..:

Konno, Takuya ; Blackburn, Patrick ; Rozen, Todd...
Neurology. 90 (2018) 15_supplement - p. , 2018

Link: https://doi.org/10.1212/..

14

Observed frequency and challenges of variant reclassificati..:

Macklin, Sarah ; Durand, Nisha ; Atwal, Paldeep.
Genetics in Medicine. 20 (2018) 3 - p. 346-350 , 2018

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

15

TRIO Gene Segregation in a Family with Cerebellar Ataxia (P..:

AL-Shaikh, Rana Hanna ; Strongosky, Audrey ; Matthew, Mavis...
Neurology. 90 (2018) 15_supplement - p. , 2018

Link: https://doi.org/10.1212/..