E-LIB Suche - Ergebnisse für: Napier, Melanie P.

1

Heterozygous loss-of-function SMC3 variants are associated ..:

Ansari, Morad ; Faour, Kamli N.W. ; Shimamura, Akiko...
Human Genetics and Genomics Advances. 5 (2024) 2 - p. 100273 , 2024

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

2

LHX2 haploinsufficiency causes a variable neurodevelopmenta..:

Schmid, Cosima M. ; Gregor, Anne ; Costain, Gregory...
Genetics in Medicine. 25 (2023) 7 - p. 100839 , 2023

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

3

Pitfalls in Genetic Testing for Consanguineous Pediatric Po..:

Saleh, Maha ; Colaiacovo, Samantha ; Napier, Melanie P....
Case Reports in Genetics. 2022 (2022) - p. 1-3 , 2022

Link: https://doi.org/10.1155/..

4

Correction: Gene therapy: perspectives from young adults wi..:

Napier, Melanie P. ; Selvan, Kavin ; Hayeems, Robin Z....
Eye. 36 (2022) 11 - p. 2228-2228 , 2022

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

5

Gene therapy: perspectives from young adults with Leber's c..:

Napier, Melanie P. ; Selvan, Kavin ; Hayeems, Robin Z....
Eye. 36 (2021) 11 - p. 2088-2093 , 2021

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

6

Novel findings and expansion of phenotype in a mosaic RASop..:

Chang, Caitlin A. ; Perrier, Renee ; Kurek, Kyle C....
American Journal of Medical Genetics Part A. 185 (2021) 9 - p. 2829-2845 , 2021

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

7

Heterozygous loss-of-function SMC3 variants are associated ..:

Ansari, Morad ; Faour, Kamli N.W ; Shimamura, Akiko...
https://research-information.bris.ac.uk/en/publications/713298c0-e36f-4664-9063-8406743f3374. , 2024

Link: https://hdl.handle.net/1..

8

Heterozygous loss-of-function SMC3 variants are associated ..:

Ansari, Morad ; Faour, Kamli N W ; Shimamura, Akiko...
https://research.manchester.ac.uk/en/publications/15887bad-c921-4439-8afb-db4a9d6b7c42. , 2024

Link: https://research.manches..

9

Heterozygous loss-of-function SMC3 variants are associated ..:

Ansari, Morad ; Faour, Kamli N. W ; Shimamura, Akiko...
10.1016/j.xhgg.2024.100273. , 2024

Link: https://hdl.handle.net/1..

10

Deleterious, protein-altering variants in the transcription..:

Hiatt, Susan M ; Trajkova, Slavica ; Sebastiano, Matteo Rossi...
https://pure.eur.nl/en/publications/512373a5-6127-4e42-8e64-91365f4bc372. , 2023

Link: https://pure.eur.nl/en/p..

11

Deleterious, protein-altering variants in the transcription..:

Hiatt, Susan M ; Trajkova, Slavica ; Sebastiano, Matteo Rossi...
https://research.vumc.nl/en/publications/485b39d6-98d0-45cd-9fc1-3a67cf49ad1e. , 2023

Link: https://research.vumc.nl..

12

Heterozygous loss-of-function SMC3 variants are associated ..:

Ansari, Morad ; Faour, Kamli N. W ; Shimamura, Akiko...
10.1101/2023.09.27.23294269. , 2023

Link: https://hdl.handle.net/1..

13

Heterozygous loss-of-function SMC3 variants are associated ..:

Ansari, Morad ; Faour, Kamli N W ; Shimamura, Akiko...
https://research.manchester.ac.uk/en/publications/2e4cec49-439f-44a2-b67d-b7f265e601f3. , 2023

Link: https://research.manches..

14

Deleterious, protein-altering variants in the transcription..:

Hiatt, Susan M ; Trajkova, Slavica ; Sebastiano, Matteo Rossi...
https://pure.eur.nl/en/publications/512373a5-6127-4e42-8e64-91365f4bc372. , 2023

Link: https://pure.eur.nl/en/p..

15

Deleterious, protein-altering variants in the transcription..:

Hiatt, Susan M ; Trajkova, Slavica ; Sebastiano, Matteo Rossi...
https://research.vumc.nl/en/publications/485b39d6-98d0-45cd-9fc1-3a67cf49ad1e. , 2023

Link: https://research.vumc.nl..