E-LIB Suche - Ergebnisse für: Friedman, Jennifer R.

1

ARF1-related disorder: phenotypic and molecular spectrum:

de Sainte Agathe, Jean-Madeleine ; Pode-Shakked, Ben ; Naudion, Sophie...
Journal of Medical Genetics. 60 (2023) 10 - p. 999-1005 , 2023

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

2

Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia i..:

Rajan, Deepa S. ; Kour, Sukhleen ; Fortuna, Tyler R....
Frontiers in Cell and Developmental Biology. 10 (2022) - p. , 2022

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

3

Rapid Diagnosis of KCNQ2-Associated Early Infantile Epilept..:

Chen, Dillon Y. ; Chowdhury, Shimul ; Farnaes, Lauge...
Pediatric Neurology. 86 (2018) - p. 69-70 , 2018

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

4

Low CSF 5-HIAA in Myoclonus Dystonia:

Peall, Kathryn J. ; Ng, Joanne ; Dy, Marisela E....
Movement Disorders. 32 (2017) 11 - p. 1647-1649 , 2017

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

5

What Is Not in the Name? Dopa-Responsive Dystonia May Respo..:

Friedman, Jennifer R.
Pediatric Neurology. 59 (2016) - p. 76-80 , 2016

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

6

ADCY5-related dyskinesia: Comments on characteristic manife..:

Raskind, Wendy H. ; Friedman, Jennifer R. ; Roze, Emmanuel...
Movement Disorders. 32 (2016) 2 - p. 305-306 , 2016

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

7

Toward clinical genomics in everyday medicine: perspectives..:

Delaney, Susan K. ; Hultner, Michael L. ; Jacob, Howard J....
Expert Review of Molecular Diagnostics. 16 (2016) 5 - p. 521-532 , 2016

Link: https://doi.org/10.1586/..

8

ADCY5-related dyskinesia: Broader spectrum and genotype–phe..:

Chen, Dong-Hui ; Méneret, Aurélie ; Friedman, Jennifer R....
Neurology. 85 (2015) 23 - p. 2026-2035 , 2015

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

9

A genome sequencing program for novel undiagnosed diseases:

Bloss, Cinnamon S. ; Zeeland, Ashley A. Scott-Van ; Topol, Sarah E....
Genetics in Medicine. 17 (2015) 12 - p. 995-1001 , 2015

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

10

ADCY5 mutation carriers display pleiotropic paroxysmal day ..:

Friedman, Jennifer R. ; Méneret, Aurélie ; Chen, Dong‐Hui...
Movement Disorders. 31 (2015) 1 - p. 147-148 , 2015

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

11

Gain‐of‐function ADCY5 mutations in familial dyskinesia wit..:

Chen, Ying‐Zhang ; Friedman, Jennifer R. ; Chen, Dong‐Hui...
Annals of Neurology. 75 (2014) 4 - p. 542-549 , 2014

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

12

De novo KCNB1 mutations in epileptic encephalopathy:

Torkamani, Ali ; Bersell, Kevin ; Jorge, Benjamin S....
Annals of Neurology. 76 (2014) 4 - p. 529-540 , 2014

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

13

Atypical GLUT1 deficiency with prominent movement disorder ..:

Friedman, Jennifer R.L. ; Thiele, Elizabeth A. ; Wang, Dong...
Movement Disorders. 21 (2006) 2 - p. 241-244 , 2006

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

14

Myocardial flow regulation in people with mitochondrial myo..:

Tawakol, Ahmed ; Sims, Katherine ; MacRae, Calum...
Coronary Artery Disease. 14 (2003) 3 - p. 197-205 , 2003

Link: https://doi.org/10.1097/..

15

ARF1-related disorder: phenotypic and molecular spectrum:

de Sainte Agathe, Jean-Madeleine ; Pode-Shakked, Ben ; Naudion, Sophie...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10579487/. , 2023

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