E-LIB Suche - Ergebnisse für: Pierson, Tyler Mark

1

Gatad2b, associated with the neurodevelopmental syndrome GA..:

Abad, Clemer ; Robayo, Maria C. ; Muñiz-Moreno, Maria del Mar...
Translational Psychiatry. 14 (2024) 1 - p. , 2024

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

2

De novo GRIN variants in M3 helix associated with neurologi..:

Xu, Yuchen ; Song, Rui ; Perszyk, Riley E....
Cellular and Molecular Life Sciences. 81 (2024) 1 - p. , 2024

Link: https://doi.org/10.1007/..

3

De novo variants in GATAD2A in individuals with a neurodeve..:

Werren, Elizabeth A. ; Guxholli, Alba ; Jones, Natasha...
Human Genetics and Genomics Advances. 4 (2023) 3 - p. 100198 , 2023

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

4

Functional effects of disease-associated variants reveal th..:

Xie, Lingling ; McDaniel, Miranda J. ; Perszyk, Riley E....
Cellular and Molecular Life Sciences. 80 (2023) 4 - p. , 2023

Link: https://doi.org/10.1007/..

5

Risks and benefits of anesthesia for combined pediatric pro..:

Macnamara, Ellen F. ; Loydpierson, Amelia ; Latour, Yvonne L....
Molecular Genetics and Metabolism. 140 (2023) 3 - p. 107707 , 2023

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

6

Familial Bainbridge‐Ropers syndrome: Report of familial ASX..:

Schirwani, Schaida ; Woods, Emily ; Koolen, David A....
American Journal of Medical Genetics Part A. 191 (2022) 1 - p. 29-36 , 2022

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

7

A neurodevelopmental disorder associated with an activating..:

Ishida, Morié ; Otero, María G ; Freeman, Christina...
Human Molecular Genetics. 32 (2022) 7 - p. 1162-1174 , 2022

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

8

Growth, development, and phenotypic spectrum of individuals..:

Zarate, Yuri A. ; Bosanko, Katherine A. ; Thomas, Mary Ann...
Clinical Genetics. 99 (2021) 4 - p. 547-557 , 2021

Link: https://doi.org/10.1111/..

9

Human induced pluripotent stem cell models for CLN6:

Pierson, Tyler Mark ; Kushwaha, Yogesh K. ; Otero, Maria Gabriela...
Molecular Genetics and Metabolism. 132 (2021) 2 - p. S86-S87 , 2021

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

10

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase c..:

Hengel, Holger ; Bosso-Lefèvre, Célia ; Grady, George...
Nature Communications. 11 (2020) 1 - p. , 2020

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

11

Pathogenic Cav3.2 channel mutation in a child with primary ..:

Souza, Ivana A. ; Gandini, Maria A. ; Zhang, Fang-Xiong...
Molecular Brain. 12 (2019) 1 - p. , 2019

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

12

Modeling CLN6 with IPSC-derived neural cells:

Pierson, Tyler Mark ; Otero, Maria Gabriella ; Nonis, David Fabian.
Molecular Genetics and Metabolism. 126 (2019) 2 - p. S118 , 2019

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

13

De novo and biallelic DEAF1 variants cause a phenotypic spe..:

Nabais Sá, Maria J. ; Jensik, Philip J. ; McGee, Stacey R....
Genetics in Medicine. 21 (2019) 9 - p. 2059-2069 , 2019

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

14

The NuRD complex and macrocephaly associated neurodevelopme..:

Pierson, Tyler Mark ; Otero, Maria G. ; Grand, Katheryn...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 181 (2019) 4 - p. 548-556 , 2019

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

15

Novel pathogenic COX20 variants causing dysarthria, ataxia,..:

Otero, Maria G. ; Tiongson, Emmanuelle ; Diaz, Frank...
Annals of Clinical and Translational Neurology. 6 (2018) 1 - p. 154-160 , 2018

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