E-LIB Suche - Ergebnisse für: Canavati, Christina

1

Using multi-scale genomics to associate poorly annotated ge..:

Canavati, Christina ; Sherill-Rofe, Dana ; Kamal, Lara...
Genome Medicine. 16 (2024) 1 - p. , 2024

2

Genomic analysis of inherited hearing loss in the Palestini..:

Abu Rayyan, Amal ; Kamal, Lara ; Casadei, Silvia...
Proceedings of the National Academy of Sciences. 117 (2020) 33 - p. 20070-20076 , 2020

Link: https://doi.org/10.1073/..

3

Genomic analysis of inherited hearing loss in the Palestini..:

Rayyan, Amal Abu ; Kamal, Lara ; Casadei, Silvia...
Proceedings of the National Academy of Sciences of the United States of America. 117 (2020) 33 - p. 20070-20076 , 2020

Link: https://www.jstor.org/st..

4

Inclusion of hemimegalencephaly into the phenotypic spectru..:

Canavati, Christina ; Klein, Karl Martin ; Afawi, Zaid...
Epilepsia. 60 (2019) 6 - p. , 2019

Link: https://doi.org/10.1111/..

5

Using multi-scale genomics to associate poorly annotated ge..:

Canavati, Christina ; Sherill-Rofe, Dana ; Kamal, Lara...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10765705/. , 2024

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

6

GWAS meta-analysis of over 29,000 people with epilepsy iden..:

Stevelink, Remi ; Campbell, Ciarán ; Chen, Siwei...
https://eprints.gla.ac.uk/307631/1/307631.pdf. , 2023

Link: https://eprints.gla.ac.u..

7

Genome-wide identification and phenotypic characterization ..:

Montanucci, Ludovica ; Lewis-Smith, David ; Collins, Ryan L...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41467-023-39539-6. , 2023

Link: https://repository.vu.lt..

8

Genome-wide identification and phenotypic characterization ..:

Montanucci, Ludovica ; Lewis-Smith, David ; Collins, Ryan L...
https://eprints.gla.ac.uk/305681/1/305681.pdf. , 2023

Link: https://eprints.gla.ac.u..

9

Distinct gene-set burden patterns underlie common generaliz..:

Koko, Mahmoud ; Krause, Roland ; Sander, Thomas...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ebiom.2021.103588. , 2021

Link: https://repository.vu.lt..

10

Sub-genic intolerance, ClinVar, and the epilepsies: A whole..:

Canafoglia, Laura ; Goldstein, David B ; Lowenstein, Daniel H...
0eacb4d1-c0d8-4723-ac08-0ba3905057a6. , 2021

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

11

Genomic analysis of inherited hearing loss in the Palestini..:

Abu Rayyan, Amal ; Kamal, Lara ; Casadei, Silvia...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7443947/. , 2020

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

12

Helicase-inactivating BRIP1 mutation yields Fanconi anemia ..:

Kamal, Lara ; Pierce, Sarah B ; Canavati, Christina...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7552932/. , 2020

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

13

Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exo..:

Collaborative, Epi25 ; Feng, Yen-Chen Anne ; Howrigan, Daniel P...
qt0wz3s560. , 2019

Link: https://escholarship.org..

14

Additional file 1 of Using multi-scale genomics to associat..:

Christina Canavati ; Dana Sherill-Rofe ; Lara Kamal...
doi:10.6084/m9.figshare.24946474.v1. , 2024

Link: https://doi.org/10.6084/..

15

Using multi-scale genomics to associate poorly annotated ge..:

Christina Canavati ; Dana Sherill-Rofe ; Lara Kamal...
https://doi.org/10.1186/s13073-023-01276-2. , 2024

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