E-LIB Suche - Ergebnisse für: Schiff, Elena R.

1

Identifying high-impact variants and genes in exomes of Ash..:

Wu, Yiming ; Gettler, Kyle ; Kars, Meltem Ece...
Nature Communications. 14 (2023) 1 - p. , 2023

2

Dominant Cone Rod Dystrophy, Previously Assigned to a Misse..:

Martin-Gutierrez, Maria Pilar ; Schiff, Elena R. ; Wright, Genevieve...
Investigative Opthalmology & Visual Science. 63 (2022) 9 - p. 14 , 2022

Link: https://doi.org/10.1167/..

3

The inner junction protein CFAP20 functions in motile and n..:

Chrystal, Paul W. ; Lambacher, Nils J. ; Doucette, Lance P....
Nature Communications. 13 (2022) 1 - p. , 2022

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

4

Prospective Study of the Phenotypic and Mutational Spectrum..:

Chan, Hwei Wuen ; Schiff, Elena R. ; Tailor, Vijay K....
Genes. 12 (2021) 4 - p. 508 , 2021

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

5

Genetic analysis of four consanguineous multiplex families ..:

Ben-Yosef, Noam ; Frampton, Matthew ; Schiff, Elena R...
Gastroenterology Report. 9 (2021) 6 - p. 521-532 , 2021

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

6

Novel Biallelic Variants and Phenotypic Features in Patient..:

Schiff, Elena R. ; Tailor, Vijay K. ; Chan, Hwei Wuen...
International Journal of Molecular Sciences. 22 (2021) 3 - p. 1130 , 2021

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

7

A genetic and clinical study of individuals with nonsyndrom..:

Schiff, Elena R. ; Daich Varela, Malena ; Robson, Anthony G....
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 184 (2020) 3 - p. 631-643 , 2020

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

8

Detailed Phenotyping and Therapeutic Strategies for Introni..:

Khan, Mubeen ; Arno, Gavin ; Fakin, Ana...
Molecular Therapy - Nucleic Acids. 21 (2020) - p. 412-427 , 2020

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

9

Seqfam: A python package for analysis of Next Generation Se..:

Frampton, Matthew ; Schiff, Elena R. ; Pontikos, Nikolas..
F1000Research. 7 (2018) - p. 281 , 2018

Link: https://doi.org/10.12688..

10

A New Look at Familial Risk of Inflammatory Bowel Disease i..:

Schiff, Elena R. ; Frampton, Matthew ; Semplici, Francesca...
Digestive Diseases and Sciences. 63 (2018) 11 - p. 3049-3057 , 2018

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

11

A Frameshift in CSF2RB Predominant Among Ashkenazi Jews Inc..:

Chuang, Ling-Shiang ; Villaverde, Nicole ; Hui, Ken Y....
Gastroenterology. 151 (2016) 4 - p. 710-723.e2 , 2016

Link: https://doi.org/10.1053/..

12

Genetic Complexity of Crohn's Disease in Two Large Ashkenaz..:

Levine, Adam P. ; Pontikos, Nikolas ; Schiff, Elena R....
Gastroenterology. 151 (2016) 4 - p. 698-709 , 2016

Link: https://doi.org/10.1053/..

13

Additional rare variant analysis in Parkinson's disease cas..:

Lubbe, Steven J. ; Escott-Price, Valentina ; Gibbs, J. Raphael...
Human Molecular Genetics. , 2016

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

14

Identifying high-impact variants and genes in exomes of Ash..:

Wu, Yiming ; Gettler, Kyle ; Kars, Meltem Ece...
https://discovery.ucl.ac.uk/id/eprint/10168902/1/s41467-023-37849-3.pdf. , 2023

Link: https://discovery.ucl.ac..

15

Identifying high-impact variants and genes in exomes of Ash..:

Wu, Yiming ; Gettler, Kyle ; Kars, Meltem Ece...
10.1038/s41467-023-37849-3. , 2023

Link: http://hdl.handle.net/10..