E-LIB Suche - Ergebnisse für: Ben‐Omran, T.

1

Mutations in known disease genes account for the majority o..:

Patel, N. ; Alkuraya, H. ; Alzahrani, S.S....
Clinical Genetics. 94 (2018) 6 - p. 554-563 , 2018

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

2

Homozygous nonsense mutation in SCHIP1/IQCJ‐SCHIP1 causes a..:

Elsaid, M.F. ; Chalhoub, N. ; Ben‐Omran, T....
Clinical Genetics. 93 (2017) 2 - p. 387-391 , 2017

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

3

Cysteamine revisited: repair of arginine to cysteine mutati..:

Gallego‐Villar, L. ; Hannibal, Luciana ; Häberle, J....
Journal of Inherited Metabolic Disease. 40 (2017) 4 - p. 555-567 , 2017

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

4

Implementation of extended neonatal screening and a metabol..:

Lindner, M. ; Abdoh, G. ; Fang‐Hoffmann, J....
Journal of Inherited Metabolic Disease. 30 (2007) 4 - p. 522-529 , 2007

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

5

Structural central nervous system (CNS) anomalies in Kabuki..:

Ben‐Omran, T. ; Teebi, Ahmad S.
American Journal of Medical Genetics Part A. 137A (2005) 1 - p. 100-103 , 2005

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

6

Atypical phenotype in a boy with a maple syrup urine diseas:

Ben‐Omran, T. I. ; Blaser, S. ; Phillips, H...
Journal of Inherited Metabolic Disease. 29 (2006) 1 - p. 195-200 , 2006

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

7

P.33 Novel dietary management strategies for classical homo..:

Thomas, J ; Ben-Omran, T ; Levy, H...
Molecular Genetics and Metabolism. 141 (2024) - p. 108399 , 2024

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

8

Whole exome sequencing unravels disease-causing genes in co..:

Fahiminiya, S. ; Almuriekhi, M. ; Nawaz, Z....
Clinical Genetics. 86 (2013) 2 - p. 134-141 , 2013

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

9

Nusinersen initiated in infants during the presymptomatic s..:

De Vivo, DC ; Bertini, E ; Swoboda, KJ...
issn:0960-8966. , 2019

Link: http://hdl.handle.net/11..

10

Homozygous mutations in TBC1D23 lead to a non-degenerative ..:

Marin-Valencia, I ; Gerondopoulos, A ; Zaki, MS...
doi:10.1016/j.ajhg.2017.07.015. , 2019

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

11

Real-World Outcomes with Lomitapide Use in Paediatric Patie..:

Ben-Omran T ; Masana L ; Kolovou G...
http://hdl.handle.net/20.500.11797/imarina5671202. , 2019

Link: https://hdl.handle.net/2..

12

Evidence-Based Consensus and Systematic Review on Reducing ..:

Aartsma-Rus, Annemieke ; Hegde, M ; Ben-Omran, T...
Journal of Pediatrics. , 2019

Link: https://ddd.uab.cat/reco..

13

Evidence-Based Consensus and Systematic Review on Reducing ..:

Aartsma-Rus A ; Hegde M ; Ben-Omran T...
info:eu-repo/semantics/altIdentifier/pmid/30579468. , 2019

Link: http://hdl.handle.net/11..

14

Nusinersen initiated in infants during the presymptomatic s..:

De Vivo DC ; Bertini E ; Swoboda KJ...
info:eu-repo/semantics/altIdentifier/pmid/31704158. , 2019

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

15

Expanding the genetic heterogeneity of intellectual disabil..:

Anazi, S ; Maddirevula, S ; Salpietro, V...
https://discovery.ucl.ac.uk/id/eprint/1576522/3/Lashley_Anazi%20S%20et%20al.pdf. , 2017

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