E-LIB Suche - Ergebnisse für: Friedman, Jennifer

1

P339: Whole genome sequencing identifies biallelic variants..:

Lenberg, Jerica ; Wigby, Kristen ; Friedman, Jennifer...
Genetics in Medicine Open. 2 (2024) - p. 101233 , 2024

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

2

Sunflower Syndrome: A Survey of Provider Awareness and Mana..:

Baumer, Fiona M. ; Julich, Kristina ; Friedman, Jennifer...
Pediatric Neurology. 152 (2024) - p. 177-183 , 2024

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

3

Frontiers in congenital disorders of glycosylation consorti..:

Lam, Christina ; Scaglia, Fernando ; Berry, Gerard T....
Molecular Genetics and Metabolism. 142 (2024) 4 - p. 108509 , 2024

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

4

Further delineation of the CWC27‐associated spliceosomeopat..:

Yassin, Shaden H. ; Henderson, Riley ; Lenberg, Jerica...
American Journal of Medical Genetics Part A. 191 (2023) 5 - p. 1378-1383 , 2023

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

5

Pediatric opsoclonus myoclonus ataxia syndrome in the setti..:

Yakir, Maayan ; Most, Dana ; Hermel, Jonathan...
Neurology. 100 (2023) 17_supplement_2 - p. , 2023

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

6

The wisdom of our mentors: clinical pearls in movement diso..:

Araújo, Rui ; Fearon, Conor ; Balint, Bettina...
The Lancet Neurology. 22 (2023) 12 - p. 1108-1109 , 2023

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

7

An approach for collaborative development of a federated bi..:

Fecho, Karamarie ; Bizon, Chris ; Issabekova, Tursynay...
Journal of Clinical and Translational Science. 7 (2023) 1 - p. , 2023

Link: https://doi.org/10.1017/..

8

Gain-of-function and loss-of-function variants in GRIA3 lea..:

Rinaldi, Berardo ; Bayat, Allan ; Zachariassen, Linda G...
Brain. 147 (2023) 5 - p. 1837-1855 , 2023

Link: https://doi.org/10.1093/..

9

Transitional Care for Young People with Movement Disorders:..:

Pringsheim, Tamara ; Batla, Amit ; Shalash, Ali...
Movement Disorders Clinical Practice. 10 (2023) 5 - p. 748-755 , 2023

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

10

A Screening Tool to Quickly Identify Movement Disorders in ..:

Koens, Lisette H. ; Klamer, Marrit R. ; Sival, Deborah A....
Movement Disorders. 38 (2023) 4 - p. 646-653 , 2023

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

11

DNA methylation episignature in Gabriele-de Vries syndrome:

Cherik, Florian ; Reilly, Jack ; Kerkhof, Jennifer...
Genetics in Medicine. 24 (2022) 4 - p. 905-914 , 2022

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

12

De Novo ZMYND8 variants result in an autosomal dominant neu..:

Dias, Kerith-Rae ; Carlston, Colleen M. ; Blok, Laura E.R....
Genetics in Medicine. 24 (2022) 9 - p. 1952-1966 , 2022

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

13

Approaches to long-read sequencing in a clinical setting to..:

Sanford Kobayashi, Erica ; Batalov, Serge ; Wenger, Aaron M....
Scientific Reports. 12 (2022) 1 - p. , 2022

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

14

Efficacy of Caffeine in ADCY5‐Related Dyskinesia: A Retrosp..:

Méneret, Aurélie ; Mohammad, Shekeeb S. ; Cif, Laura...
Movement Disorders. 37 (2022) 6 - p. 1294-1298 , 2022

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

15

Forbidding your cake and eating it too: health performance ..:

Graham, Laurel ; Friedman, Jennifer ; Vega, Xamil
Social Theory & Health. 20 (2021) 3 - p. 237-259 , 2021

Link: https://doi.org/10.1057/..