E-LIB Suche - Ergebnisse für: Dor, Talya

1

Essential components of an effective transition from paedia..:

Molnar, Maria Judit ; Szabó, Léna ; Vladacenco, Oana Aurelia...
Orphanet Journal of Rare Diseases. 19 (2024) 1 - p. , 2024

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

2

Inhibition of nonsense-mediated mRNA decay may improve stop..:

Amar-Schwartz, Adi ; Cohen, Yuval ; Elhaj, Antony...
Human Molecular Genetics. 32 (2023) 15 - p. 2455-2463 , 2023

Link: https://doi.org/10.1093/..

3

Growth hormone therapy for children with Duchenne muscular ..:

Lavi, Eran ; Cohen, Amitay ; Libdeh, Abdulsalam Abu...
Growth Hormone & IGF Research. 72-73 (2023) - p. 101558 , 2023

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

4

A Zebrafish Model for a Rare Genetic Disease Reveals a Cons..:

Confino, Shir ; Dor, Talya ; Tovin, Adi...
International Journal of Molecular Sciences. 23 (2022) 4 - p. 2373 , 2022

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

5

Erratum to "Safety and clinical outcome of tamoxifen in Duc..:

Tsabari, Reuven ; Simchovitz, Elana ; Lavi, Eran...
Neuromuscular Disorders. 32 (2022) 3 - p. e5-e7 , 2022

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

6

Safety and clinical outcome of tamoxifen in Duchenne muscul..:

Tsabari, Reuven ; Simchovitz, Elana ; Lavi, Eran...
Neuromuscular Disorders. 31 (2021) 9 - p. 803-813 , 2021

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

7

Growth Hormone Therapy for Children With Duchenne Muscular ..:

Lavi, Eran ; Cohen, Amitay ; Dor, Talya..
Journal of the Endocrine Society. 5 (2021) Supplement_1 - p. A715-A715 , 2021

Link: https://doi.org/10.1210/..

8

Microcephaly-dystonia due to mutated PLEKHG2 with impaired ..:

Edvardson, Simon ; Wang, Haibo ; Dor, Talya...
neurogenetics. 17 (2015) 1 - p. 25-30 , 2015

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

9

EXOSC8 mutations alter mRNA metabolism and cause hypomyelin..:

Boczonadi, Veronika ; Müller, Juliane S. ; Pyle, Angela...
Nature Communications. 5 (2014) 1 - p. , 2014

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

10

Variable Myopathic Presentation in a Single Family with Nov..:

Attali, Ruben ; Aharoni, Sharon ; Treves, Susan...
PLoS ONE. 8 (2013) 7 - p. e69296 , 2013

Link: https://doi.org/10.1371/..

11

Intractable epilepsy of infancy due to homozygous mutation ..:

Berger, Itai ; Dor, Talya ; Halvardson, Jonatan...
Epilepsia. 53 (2012) 8 - p. 1436-1440 , 2012

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

12

Exome sequencing and disease-network analysis of a single f..:

Erlich, Yaniv ; Edvardson, Simon ; Hodges, Emily...
Genome Research. 21 (2011) 5 - p. 658-664 , 2011

Link: https://doi.org/10.1101/..

13

A Zebrafish Model for a Rare Genetic Disease Reveals a Cons..:

Confino, Shir ; Dor, Talya ; Tovin, Adi...
info:eu-repo/semantics/altIdentifier/wos/000769739500001. , 2022

Link: https://publikationen.bi..

14

EXOSC8 mutations alter mRNA metabolism and cause hypomyelin..:

Boczonadi, Veronika ; Müller, Juliane S ; Pyle, Angela...
https://www.repository.cam.ac.uk/handle/1810/290358. , 2014

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

15

A Zebrafish Model for a Rare Genetic Disease Reveals a Cons..:

Shir Confino ; Talya Dor ; Adi Tovin...
https://www.mdpi.com/1422-0067/23/4/2373. , 2022

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