E-LIB Suche - Ergebnisse für: Fedida, Ayalla

1

Case report: Novel insights into hemorrhagic destruction of..:

Abdallah Moady, Tameemi ; Odeh, Marwan ; Fedida, Ayalla...
Frontiers in Pediatrics. 11 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

2

Long term ophthalmic complications of distal arthrogryposis..:

Cohen, Dana ; Sloma, Ronen ; Pizem, Hadas...
Ophthalmic Genetics. 44 (2022) 1 - p. 28-34 , 2022

Link: https://doi.org/10.1080/..

3

Sedaghatian-type spondylometaphyseal dysplasia: Whole exome..:

Fedida, Ayalla ; Ben Harouch, Shani ; Kalfon, Limor...
European Journal of Medical Genetics. 63 (2020) 11 - p. 104020 , 2020

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

4

COG6‐CDG: Expanding the phenotype with emphasis on glycosyl..:

Mandel, Hanna ; Cohen Kfir, Nehama ; Fedida, Ayalla...
Clinical Genetics. 98 (2020) 4 - p. 402-407 , 2020

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

5

Newborn screening for cerebrotendinous xanthomatosis is the..:

DeBarber, Andrea E. ; Kalfon, Limor ; Fedida, Ayalla...
Journal of Lipid Research. 59 (2018) 11 - p. 2214-2222 , 2018

Link: https://doi.org/10.1194/..

6

Pathogenic variants in glutamyl-tRNAGln amidotransferase su..:

Friederich, Marisa W. ; Timal, Sharita ; Powell, Christopher A....
Nature Communications. 9 (2018) 1 - p. , 2018

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

7

Two Synechococcus genes, Two Different Effects on Cyanophag..:

Fedida, Ayalla ; Lindell, Debbie
Viruses. 9 (2017) 6 - p. 136 , 2017

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

8

Case report: Novel insights into hemorrhagic destruction of..:

Abdallah Moady, Tameemi ; Odeh, Marwan ; Fedida, Ayalla...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10534027/. , 2023

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

9

A Founder Mutation in EHD1 Presents with Tubular Proteinuri..:

Issler, Naomi ; Afonso, Sara ; Weissman, Irith...
https://discovery.ucl.ac.uk/id/eprint/10147913/1/EHD1-manuscript-2021-12-16fn.pdf. , 2022

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

10

Pathogenic variants in glutamyl-tRNAGln amidotransferase su..:

Kurolap, Alina ; Palacios Zambrano, Sara ; Bratkovic, Drago...
Nature Communications. , 2018

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

11

Pathogenic variants in glutamyl-tRNA(Gln) amidotransferase ..:

Friederich, Marisa W ; Timal, Sharita ; Powell, Christopher A...
https://research.rug.nl/en/publications/5dbd87c4-186d-4d4b-ba6c-5ff0ee935570. , 2018

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

12

Pathogenic variants in glutamyl-tRNAGln amidotransferase su..:

Friederich, Marisa W ; Timal, Sharita ; Powell, Christopher A...
Publisher's version. , 2018

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

13

Pathogenic variants in glutamyl-tRNAGln amidotransferase su..:

Friederich, Marisa W ; Timal, Sharita ; Powell, Christopher A...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6170436/. , 2018

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

14

Newborn screening for cerebrotendinous xanthomatosis is the..:

DeBarber, Andrea E ; Kalfon, Limor ; Fedida, Ayalla...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6210902/. , 2018

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

15

Pathogenic variants in glutamyl-tRNAGln amidotransferase su..:

Friederich, Marisa W ; Timal, Sharita ; Powell, Christopher A...
https://www.repository.cam.ac.uk/handle/1810/286571. , 2018

Link: https://www.repository.c..