E-LIB Suche - Ergebnisse für: Groden, Catherine

1

Genomic analysis, immunomodulation and deep phenotyping of ..:

Soldatos, Ariane ; Nutman, Thomas B ; Johnson, Tory...
Brain. 146 (2022) 3 - p. 968-976 , 2022

2

Adult diagnosis of congenital serine biosynthesis defect: A..:

Debs, Sarah ; Ferreira, Carlos R. ; Groden, Catherine...
American Journal of Medical Genetics Part A. 185 (2021) 7 - p. 2102-2107 , 2021

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

3

A sialidosis type I cohort and a quantitative approach to m..:

Daich Varela, Malena ; Zein, Wadih M ; Toro, Camilo...
British Journal of Ophthalmology. 105 (2020) 6 - p. 838-843 , 2020

Link: https://doi.org/10.1136/..

4

Biallelic variants in two complex I genes cause abnormal sp..:

Johnstone, Thomas ; Wang, Jennifer ; Ross, Daron...
Molecular Genetics and Metabolism. 131 (2020) 1-2 - p. 98-106 , 2020

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

5

Longitudinal Positron Emission Tomography of Dopamine Synth..:

Lopez, Grisel ; Eisenberg, Daniel P. ; Gregory, Michael D....
Annals of Neurology. 87 (2020) 4 - p. 652-657 , 2020

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

6

Early Onset Parkinson's Disease Caused by Complete Uniparen..:

Xiao, Changrui ; Markello, Thomas ; Groden, Catherine..
Neurology. 94 (2020) 15_supplement - p. , 2020

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

7

Case report: extreme coronary calcifications and hypomagnes..:

Li, Howard J. ; Groden, Catherine ; Hoenig, Melanie P....
BMC Nephrology. 20 (2019) 1 - p. , 2019

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

8

Clinical Evaluation of Sibling Pairs With Gaucher Disease D..:

Lopez, Grisel ; Steward, Alta ; Ryan, Emory...
Movement Disorders. 35 (2019) 2 - p. 359-365 , 2019

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

9

Clinical outcomes and brain metabolites in patients with la..:

Tifft, Cynthia J. ; Wang, Camille ; Johnston, Jean...
Molecular Genetics and Metabolism. 123 (2018) 2 - p. S139 , 2018

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

10

Phenotypic characterization of sialidosis type I: A prelude..:

Toro, Camilo ; Groden, Catherine ; Johnston, Jean M....
Molecular Genetics and Metabolism. 123 (2018) 2 - p. S141 , 2018

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

11

Neurologic involvement in patients with atypical Chediak-Hi..:

Introne, Wendy J. ; Westbroek, Wendy ; Groden, Catherine A....
Neurology. 88 (2017) 7 - p. , 2017

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

12

Defining Disease, Diagnosis, and Translational Medicine wit..:

Gall, Timothy ; Valkanas, Elise ; Bello, Christofer...
Frontiers in Medicine. 4 (2017) - p. , 2017

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

13

Sibling pairs with Gaucher disease discordant for Parkinson..:

Steward, Alta M ; Monestime, Gianina ; Groden, Catherine...
Molecular Genetics and Metabolism. 120 (2017) 1-2 - p. S127-S128 , 2017

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

14

Peripheral nervous system manifestations of Chediak-Higashi..:

Lehky, Tanya J. ; Groden, Catherine ; Lear, Barbara..
Muscle & Nerve. 55 (2016) 3 - p. 359-365 , 2016

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

15

Computational evaluation of exome sequence data using human..:

Bone, William P. ; Washington, Nicole L. ; Buske, Orion J....
Genetics in Medicine. 18 (2016) 6 - p. 608-617 , 2016

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