E-LIB Suche - Ergebnisse für: Pode-Shakked, B

1

A novel inborn error of the Coenzyme Q10 biosynthesis pathw..:

Malicdan, M. ; Vilboux, T. ; Ben-Zeev, B....
Neuromuscular Disorders. 27 (2017) - p. S176 , 2017

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

2

Impaired complex I repair causes recessive Leber's heredita..:

Stenton S. L ; Sheremet N. L ; Catarino C. B...
info:eu-repo/semantics/altIdentifier/pmid/33465056. , 2021

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

3

SCUBE3 loss-of-function causes a recognizable recessive dev..:

Lin, Y-C ; Niceta, M ; Muto, V...
doi:10.1016/j.ajhg.2020.11.015. , 2021

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

4

SCUBE3 loss-of-function causes a recognizable recessive dev..:

Lin, YC ; Niceta, M ; Muto, V...
https://discovery.ucl.ac.uk/id/eprint/10158748/1/SCUBE3_loss_of_function.pdf. , 2021

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

5

Bi-allelic variants in RALGAPA1 cause profound neurodevelop..:

Wagner, M ; Skorobogatko, Y ; Pode-Shakked, B...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2020.01.002. , 2020

Link: https://push-zb.helmholt..

6

Noncoding deletions reveal a gene that is critical for inte..:

Oz-Levi, D ; Olender, T ; Bar-Joseph, I...
https://discovery.ucl.ac.uk/id/eprint/10080305/6/Kleta%20red%20IDS.complied.near.final%20%281%29.pdf. , 2019

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

7

Mutations in PPCS, encoding phosphopantothenoylcysteine syn..:

Iuso, A ; Wiersma, M ; Schüller, H.J...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2018.03.022. , 2018

Link: https://push-zb.helmholt..

8

Biallelic mutations in DNAJC12 cause hyperphenylalaninemia,..:

Anikster, Y ; Haack, T.B ; Vilboux, T...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2017.01.002. , 2017

Link: https://push-zb.helmholt..

9

Biallelic DAW1 variants cause a motile ciliopathy character..:

Leslie, Joseph S. ; Hjeij, Rim ; Vivante, Asaf...
Genetics in Medicine. 24 (2022) 11 - p. 2249-2261 , 2022

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

10

Phenotype variability in Hajdu-Cheney syndrome:

Regev, Miriam ; Pode-Shakked, Ben ; Jacobson, Jeffrey M....
European Journal of Medical Genetics. 62 (2019) 1 - p. 35-38 , 2019

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

11

Cell-Free DNA, Neutrophil extracellular traps (NETs), and E..:

Henry, Brandon Michael ; de Oliveira, Maria Helena Santos ; Cheruiyot, Isaac...
Mediators of Inflammation. 2022 (2022) - p. 1-8 , 2022

Link: https://doi.org/10.1155/..

12

Biallelic DAW1 variants cause a motile ciliopathy character..:

Leslie, Joseph S ; Hjeij, Rim ; Vivante, Asaf...
https://pure.au.dk/portal/en/publications/7b4a9a5f-60ea-4e3a-8fe5-6f943101cb02. , 2022

Link: https://pure.au.dk/porta..

13

Biallelic DAW1 variants cause a motile ciliopathy character..:

Leslie, Joseph S ; Hjeij, Rim ; Vivante, Asaf...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10584193/. , 2022

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

14

DLG4-related synaptopathy:a new rare brain disorder:

Rodriguez-Palmero, Agusti ; Boerrigter, Melissa Maria ; Gomez-Andres, David...
https://research.rug.nl/en/publications/aed9f0a4-81eb-466a-926b-203c595a9e3e. , 2021

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

15

Impaired complex I repair causes recessive Leber's heredita..:

Stenton, Sarah L ; Sheremet, Natalia L ; Catarino, Claudia B...
info:eu-repo/semantics/altIdentifier/pmid/33465056. , 2021

Link: http://hdl.handle.net/24..