E-LIB Suche - Ergebnisse für: Macnamara, Ellen F.

1

Genetic counseling for congenital disorders of glycosylatio..:

Weixel, Tara ; Wolfe, Lynne ; Macnamara, Ellen F.
Journal of Genetic Counseling. , 2024

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

2

Bi-allelic ATG4D variants are associated with a neurodevelo..:

Morimoto, Marie ; Bhambhani, Vikas ; Gazzaz, Nour...
npj Genomic Medicine. 8 (2023) 1 - p. , 2023

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

3

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/..

4

MYH2-associated myopathy caused by a novel splice-site vari..:

Cassini, Thomas A. ; Malicdan, May Christine V. ; Macnamara, Ellen F....
Neuromuscular Disorders. 33 (2023) 3 - p. 257-262 , 2023

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

5

De novo variants in MRTFB have gain-of-function activity in..:

Andrews, Jonathan C. ; Mok, Jung-Wan ; Kanca, Oguz...
Genetics in Medicine. 25 (2023) 6 - p. 100833 , 2023

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

6

The contribution of mosaicism to genetic diseases and de no..:

Tinker, Rory J. ; Bastarache, Lisa ; Ezell, Kimberly...
American Journal of Medical Genetics Part A. 191 (2023) 10 - p. 2482-2492 , 2023

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

7

Diagnosis and discovery: Insights from the NIH Undiagnosed ..:

Montano, Carolina ; Cassini, Thomas ; Ziegler, Shira G....
Journal of Inherited Metabolic Disease. 45 (2022) 5 - p. 907-918 , 2022

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

8

Complex effects on CaV2.1 channel gating caused by a CACNA1..:

Grosso, Benjamin J. ; Kramer, Audra A. ; Tyagi, Sidharth...
Scientific Reports. 12 (2022) 1 - p. , 2022

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

9

Genomic analysis, immunomodulation and deep phenotyping of ..:

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

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

10

An autosomal dominant neurological disorder caused by de no..:

Ferdinandusse, Sacha ; McWalter, Kirsty ; te Brinke, Heleen...
Genetics in Medicine. 23 (2021) 4 - p. 740-750 , 2021

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

11

Progressive cerebellar atrophy in a patient with complex II..:

Sturrock, Beattie R. H. ; Macnamara, Ellen F. ; McGuire, Peter...
Molecular Genetics & Genomic Medicine. 9 (2021) 6 - p. , 2021

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

12

Prospective phenotyping of long-term survivors of generaliz..:

Ferreira, Carlos R. ; Hackbarth, Mary E. ; Ziegler, Shira G....
Genetics in Medicine. 23 (2021) 2 - p. 396-407 , 2021

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

13

Correction to: An autosomal dominant neurological disorder ..:

Ferdinandusse, Sacha ; McWalter, Kirsty ; te Brinke, Heleen...
Genetics in Medicine. 23 (2021) 12 - p. 2467 , 2021

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

14

The undiagnosed diseases program: Approach to diagnosis:

Macnamara, Ellen F. ; D'Souza, Precilla ; Tifft, Cynthia J...
Translational Science of Rare Diseases. 4 (2020) 3-4 - p. 179-188 , 2020

Link: https://doi.org/10.3233/..

15

DYRK1A pathogenic variants in two patients with syndromic i..:

Meissner, Laura E. ; Macnamara, Ellen F. ; D'Souza, Precilla...
Molecular Genetics & Genomic Medicine. 8 (2020) 12 - p. , 2020

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