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

1

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/..

2

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/..

3

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/..

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

Sequence variation in PPP1R13L results in a novel form of c..:

Falik‐Zaccai, Tzipora C ; Barsheshet, Yiftah ; Mandel, Hanna...
EMBO Molecular Medicine. 9 (2017) 9 - p. 1326-1326 , 2017

Link: https://doi.org/10.15252..

6

Sequence variation inPPP1R13Lresults in a novel form of car..:

Falik‐Zaccai, Tzipora C ; Barsheshet, Yiftah ; Mandel, Hanna...
EMBO Molecular Medicine. 9 (2017) 3 - p. 319-336 , 2017

Link: https://doi.org/10.15252..

7

A broad spectrum of developmental delay in a large cohort o..:

Falik‐Zaccai, Tzipora C. ; Khayat, Morad ; Luder, Anthony...
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 153B (2009) 1 - p. 46-56 , 2009

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

8

Cockayne syndrome type II in a Druze isolate in Northern Is..:

Falik‐Zaccai, Tzipora C. ; Laskar, Meital ; Kfir, Nechama...
American Journal of Medical Genetics Part A. 146A (2008) 11 - p. 1423-1429 , 2008

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

9

Use of a cDNA microarray to determine molecular mechanisms ..:

Hyman, Tehila ; Huizing, Marjan ; Blumberg, Peter M....
British Journal of Haematology. 122 (2003) 1 - p. 142-149 , 2003

Link: https://doi.org/10.1046/..

10

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/..

11

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/..

12

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/..

13

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/..

14

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/..

15

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/..