E-LIB Suche - Ergebnisse für: Falik-Zaccai, Tzipora C.

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

Hereditary orotic aciduria identified by newborn screening:

Staretz-Chacham, Orna ; Damseh, Nadirah S. ; Daas, Suha...
Frontiers in Genetics. 14 (2023) - p. , 2023

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

3

NGLY1 Deficiency Zebrafish Model Manifests Abnormalities of..:

Mesika, Aviv ; Nadav, Golan ; Shochat, Chen...
Frontiers in Cell and Developmental Biology. 10 (2022) - p. , 2022

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

4

Expert opinion on diagnosing, treating and managing patient..:

Stelten, Bianca M. L. ; Dotti, Maria Teresa ; Verrips, Aad...
Orphanet Journal of Rare Diseases. 16 (2021) 1 - p. , 2021

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

5

Concomitant congenital CMV infection and inherited liver di..:

Swed-Tobia, Rana ; Kassis, Imad ; Weiss, Karin...
European Journal of Medical Genetics. 64 (2021) 8 - p. 104249 , 2021

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

6

Mammalian Homologue NME3 of DYNAMO1 Regulates Peroxisome Di..:

Honsho, Masanori ; Abe, Yuichi ; Imoto, Yuuta...
International Journal of Molecular Sciences. 21 (2020) 21 - p. 8040 , 2020

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

7

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/..

8

Challenges to effective and autonomous genetic testing and ..:

Cohen-Kfir, Nehama ; Bentwich, Miriam Ethel ; Kent, Andrew...
BMC Medical Ethics. 21 (2020) 1 - p. , 2020

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

9

Two separate functions of NME3 critical for cell survival u..:

Chen, Chih-Wei ; Wang, Hong-Ling ; Huang, Ching-Wen...
Proceedings of the National Academy of Sciences of the United States of America. 116 (2019) 2 - p. 566-574 , 2019

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

10

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/..

11

Two separate functions of NME3 critical for cell survival u..:

Chen, Chih-Wei ; Wang, Hong-Ling ; Huang, Ching-Wen...
Proceedings of the National Academy of Sciences. 116 (2018) 2 - p. 566-574 , 2018

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

12

Walker-Warburg syndrome and tectocerebellar dysraphia: A no..:

Leibovitz, Zvi ; Mandel, Hanna ; Falik-Zaccai, Tzipora C....
European Journal of Paediatric Neurology. 22 (2018) 3 - p. 525-531 , 2018

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

13

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/..

14

Mutations in C8orf37, Encoding a Ciliary Protein, are Assoc..:

Estrada-Cuzcano, Alejandro ; Neveling, Kornelia ; Kohl, Susanne...
The American Journal of Human Genetics. 90 (2012) 1 - p. 102-109 , 2012

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

15

A novel XPD mutation in a compound heterozygote; the mutati..:

Falik-Zaccai, Tzipora C. ; Erel-Segal, Reut ; Horev, Liran...
Environmental and Molecular Mutagenesis. 53 (2012) 7 - p. 505-514 , 2012

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