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

1

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/..

2

Clinical and molecular features in a cohort of Middle Easte..:

Bergson, Shir ; Daniely, Daniel ; Bomze, David...
Pediatric Dermatology. 40 (2023) 6 - p. 1021-1027 , 2023

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

3

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/..

4

DataSheet1_Hereditary orotic aciduria identified by newborn..:

Orna Staretz-Chacham ; Nadirah S. Damseh ; Suha Daas...
doi:10.3389/fgene.2023.1135267.s001. , 2023

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

5

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

Tameemi Abdallah Moady ; Marwan Odeh ; Ayalla Fedida...
https://www.frontiersin.org/articles/10.3389/fped.2023.1178280/full. , 2023

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

6

Hereditary orotic aciduria identified by newborn screening:

Orna Staretz-Chacham ; Nadirah S. Damseh ; Suha Daas...
https://www.frontiersin.org/articles/10.3389/fgene.2023.1135267/full. , 2023

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

7

Image1_Case report: Novel insights into hemorrhagic destruc..:

Tameemi Abdallah Moady ; Marwan Odeh ; Ayalla Fedida...
doi:10.3389/fped.2023.1178280.s001. , 2023

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

8

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/..

9

Addition of galactose‐1‐phosphate measurement enhances newb..:

Daas, Suha ; Abu Salah, Nasser ; Anikster, Yair...
Journal of Inherited Metabolic Disease. 46 (2022) 2 - p. 232-242 , 2022

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

10

Genetic defects in peroxisome morphogenesis (Pex11β, dynami..:

Abe, Yuichi ; Wanders, Ronald J. A. ; Waterham, Hans R....
Journal of Inherited Metabolic Disease. 46 (2022) 2 - p. 273-285 , 2022

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

11

NGLY1 Deficiency Zebrafish Model Manifests Abnormalities of..:

Aviv Mesika ; Golan Nadav ; Chen Shochat...
https://www.frontiersin.org/articles/10.3389/fcell.2022.902969/full. , 2022

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

12

Congenital Hypotonia: Cracking a SAGA of consanguineous kin..:

Limor Kalfon ; Meirav Baydany ; Nadra Samra...
https://doi.org/10.1002/mgg3.1849. , 2022

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

13

Pregnancy Exacerbates Early-Onset Familial Alzheimer's Dise..:

Croese, Tommaso ; Ramos, Javier Maria Peralta ; Castellani, Giulia...
Neurology. 96 (2021) 15_supplement - p. , 2021

Link: https://doi.org/10.1212/..

14

The effect of polyhydramnios degree on chromosomal microarr..:

Sagi-Dain, Lena ; Singer, Amihood ; Falik-Zaccai, Tzipora...
Archives of Gynecology and Obstetrics. 304 (2021) 3 - p. 649-656 , 2021

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

15

Congenital Hypotonia: Cracking a SAGA of consanguineous kin..:

Kalfon, Limor ; Baydany, Meirav ; Samra, Nadra...
Molecular Genetics & Genomic Medicine. 10 (2021) 1 - p. , 2021

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