E-LIB Suche - Ergebnisse für: Tanya L. Schwab

1

Nuclear Abnormalities in LMNA p.(Glu2Lys) Variant Segregati..:

Wilke, Matheus V. M. B. ; Wick, Myra ; Schwab, Tanya L....
Genes. 15 (2024) 1 - p. 112 , 2024

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

2

Nuclear Abnormalities in LMNA p.(Glu2Lys) Variant Segregati..:

Matheus V. M. B. Wilke ; Myra Wick ; Tanya L. Schwab...
https://www.mdpi.com/2073-4425/15/1/112. , 2024

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

3

Activated phosphoinositide 3-kinase δ syndrome: Update from..:

Maccari, Maria Elena ; Wolkewitz, Martin ; Schwab, Charlotte...
Journal of Allergy and Clinical Immunology. 152 (2023) 4 - p. 984-996.e10 , 2023

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

4

Bi-allelic variants in HMGCR cause an autosomal-recessive p..:

Morales-Rosado, Joel A. ; Schwab, Tanya L. ; Macklin-Mantia, Sarah K....
The American Journal of Human Genetics. 110 (2023) 6 - p. 989-997 , 2023

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

5

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/..

6

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/..

7

Bi-allelic variants in HMGCR cause an autosomal-recessive p..:

Morales-Rosado, Joel A ; Schwab, Tanya L ; Macklin-Mantia, Sarah K...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10257193/. , 2023

Link: http://www.ncbi.nlm.nih...

8

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/..

9

A Primer Genetic Toolkit for Exploring Mitochondrial Biolog..:

Sabharwal, Ankit ; Campbell, Jarryd M. ; Schwab, Tanya L....
Genes. 13 (2022) 8 - p. 1317 , 2022

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

10

A Primer Genetic Toolkit for Exploring Mitochondrial Biolog..:

Sabharwal, Ankit ; Campbell, Jarryd M ; Schwab, Tanya L...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9331066/. , 2022

Link: http://www.ncbi.nlm.nih...

11

A Primer Genetic Toolkit for Exploring Mitochondrial Biolog..:

Ankit Sabharwal ; Jarryd M. Campbell ; Tanya L. Schwab...
Human Genomics and Genetic Diseases. , 2022

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

12

A Primer Genetic Toolkit for Exploring Mitochondrial Biolog..:

Ankit Sabharwal ; Jarryd M. Campbell ; Tanya L. Schwab...
https://www.mdpi.com/2073-4425/13/8/1317. , 2022

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

13

Designed architectural proteins that tune DNA looping in ba..:

Tse, David H ; Becker, Nicole A ; Young, Robert T...
Nucleic Acids Research. 49 (2021) 18 - p. 10382-10396 , 2021

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

14

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/..

15

LPCAT1-TERT fusions are uniquely recurrent in epithelioid t..:

Oliver, Gavin R. ; Marcano-Bonilla, Sofia ; Quist, Jonathan...
PLOS ONE. 16 (2021) 5 - p. e0250518 , 2021

Link: https://doi.org/10.1371/..