E-LIB Suche - Ergebnisse für: Ben-Omran T

1

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/..

2

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/..

3

Epileptic encephalopathy caused by ARV1 deficiency:refineme..:

Salian, Smrithi ; Scala, Marcello ; Nguyen, Thi Tuyet Mai...
Salian , S , Scala , M , Nguyen , T T M , Severino , M , Accogli , A , Amadori , E , Torella , A , Pinelli , M , Hudson , B , Boothe , M , Hurst , A , Ben-Omran , T , Larsen , M J , Fagerberg , C R , Sperling , L , Miceikaite , I , Herissant , L , Doco-Fenzy , M , Jennesson , M , Nigro , V , Striano , P , Minetti , C , Sachdev , R K , Palmer , E E , Capra , V & Campeau , P M 2021 , ' Epileptic encephalopathy caused by ARV1 deficiency : refinement of the genotype-phenotype spectrum and functional impact on GPI-anchored proteins ' , Clinical Genetics , vol. 100 , no. 5 , pp. 607-614 . https://doi.org/10.1111/cge.14033. , 2021

Link: https://portal.findresea..

4

P.356Nusinersen in infants who initiate treatment in a pres..:

Ryan, M. ; De Vivo, D. ; Bertini, E....
Neuromuscular Disorders. 29 (2019) - p. S185 , 2019

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

5

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/..

6

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..

7

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..

8

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..

9

Biallelic mutations in valyl-tRNA synthetase gene VARS are ..:

Friedman, Jennifer ; Smith, Desiree E ; Issa, Mahmoud Y...
Friedman , J , Smith , D E , Issa , M Y , Stanley , V , Wang , R , Mendes , M I , Wright , M S , Wigby , K , Hildreth , A , Crawford , J R , Koehler , A E , Chowdhury , S , Nahas , S , Zhai , L , Xu , Z , Lo , W-S , James , K N , Musaev , D , Accogli , A , Guerrero , K , Tran , L T , Omar , T E I , Ben-Omran , T , Dimmock , D , Kingsmore , S F , Salomons , G S , Zaki , M S , Bernard , G & Gleeson , J G 2019 , ' Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy ' , Nature Communications , vol. 10 , no. 1 , 707 . https://doi.org/10.1038/s41467-018-07067-3. , 2019

Link: https://research.vumc.nl..

10

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..

11

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..

12

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..

13

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

Gallego-Villar, L ; Hannibal, L ; Häberle, J...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5740875/. , 2017

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

14

Biallelic Mutations in TMTC3, Encoding a Transmembrane and ..:

Jerber, Julie ; Zaki, Maha S ; Al-Aama, Jumana Y...
Jerber J., Zaki M. S. , Al-Aama J. Y. , Rosti R. O. , Ben-Omran T., Dikoglu E., Silhavy J. L. , Caglar C., Musaev D., Albrecht B., et al., -Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly-, AMERICAN JOURNAL OF HUMAN GENETICS, cilt.99, sa.5, ss.1181-1189, 2016. , 2016

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

15

Guidelines for acute management of hyperammonemia in the Mi..:

Alfadhel M ; Al Mutairi F ; Makhseed N...
https://www.dovepress.com/guidelines-for-acute-management-of-hyperammonemia-in-the-middle-east-r-peer-reviewed-article-TCRM. , 2016

Link: https://doaj.org/article..