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Macnamara, Ellen F.
155
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Online (155)
Mediatypes
Articles (Online) (112)
Bookchapter (Online) (3)
OpenAccess-fulltext (40)
Sorted by: Relevance
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?
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
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/..
?
4
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/..
?
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
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/..
?
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
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/..
?
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
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/..
?
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/..
1-15