E-LIB Suche - Ergebnisse für: Macke, Eric

1

Orbital-Resolved DFT+U for Molecules and Solids:

Macke, Eric ; Timrov, Iurii ; Marzari, Nicola.
Journal of Chemical Theory and Computation. 20 (2024) 11 - p. 4824-4843 , 2024

Link: https://doi.org/10.1021/..

2

Orbital-resolved DFT+U for molecules and solids:

Macke, Eric ; Timrov, Iurii ; Marzari, Nicola.
http://arxiv.org/abs/2312.13580. , 2023

Link: http://arxiv.org/abs/231..

3

Identification of skewed X chromosome inactivation using ex..:

Fadra, Numrah ; Schultz-Rogers, Laura E ; Chanana, Pritha...
BMC Genomics. 25 (2024) 1 - p. , 2024

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

4

Semiautomated approach focused on new genomic information r..:

Ferrer, Alejandro ; Duffy, Patrick ; Olson, Rory J....
Human Genetics. 143 (2024) 5 - p. 649-666 , 2024

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

5

An adult with acylglycerol kinase deficiency:

Wierenga, Klaas ; Boniface, Michael ; Seim, Lynsey...
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108311 , 2024

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

6

O50: A RENEW'd strategy to ending the diagnostic odyssey: S..:

Olson, Rory ; Ferrer, Alejandro ; Duffy, Patrick...
Genetics in Medicine Open. 1 (2023) 1 - p. 100703 , 2023

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

7

Impact of integrated translational research on clinical exo..:

Klee, Eric W. ; Cousin, Margot A. ; Pinto e Vairo, Filippo...
Genetics in Medicine. 25 (2023) 2 - p. 100359 , 2023

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

8

Bi-allelic variants in INTS11 are associated with a complex..:

Tepe, Burak ; Macke, Erica L. ; Niceta, Marcello...
The American Journal of Human Genetics. 110 (2023) 5 - p. 774-789 , 2023

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

9

eP183: Functional assessment of a novel POU4F3 missense var..:

Macke, Erica ; Schwab, Tanya ; Schimmenti, Lisa.
Genetics in Medicine. 24 (2022) 3 - p. S113-S114 , 2022

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

10

eP158: The utility of transcriptomics to increase diagnosti..:

Klee, Eric ; Macke, Erica ; Cousin, Margot...
Genetics in Medicine. 24 (2022) 3 - p. S96-S97 , 2022

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

11

Functional validation of a novel AAAS variant in an atypica..:

Macke, Erica L. ; Morales‐Rosado, Joel A. ; Macklin‐Mantia, Sarah K....
Molecular Genetics & Genomic Medicine. 10 (2022) 7 - p. , 2022

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

12

Prenatal diagnosis of an FLNB associated skeletal dysplasia:

Wick, Myra ; Macke, Erica ; Rust, Laura.
Molecular Genetics and Metabolism. 132 (2021) - p. S312 , 2021

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

13

Impact of integrated translational research on clinical exo..:

Klee, Eric W. ; Cousin, Margot A. ; Pinto e Vairo, Filippo...
Genetics in Medicine. 23 (2021) 3 - p. 498-507 , 2021

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

14

Expansion of the Genotypic and Phenotypic Spectrum of WASF1..:

Srivastava, Siddharth ; Macke, Erica L. ; Swanson, Lindsay C....
Brain Sciences. 11 (2021) 7 - p. 931 , 2021

Link: https://doi.org/10.3390/..

15

Functional validation of a novel AAAS variant in an atypica..:

Macke, Erica ; Mantia, Sarah ; Schmitz, Christopher..
Molecular Genetics and Metabolism. 132 (2021) - p. S177 , 2021

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