Ben-Omran T
390  Ergebnisse:
Personensuche X
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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
 
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6

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
 
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8

Nusinersen initiated in infants during the presymptomatic s..:

De Vivo DC ; Bertini E ; Swoboda KJ...
info:eu-repo/semantics/altIdentifier/pmid/31704158.  , 2019
 
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9

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

Aartsma-Rus A ; Hegde M ; Ben-Omran T...
info:eu-repo/semantics/altIdentifier/pmid/30579468.  , 2019
 
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10

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
 
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12

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
 
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14

The phenotype of Floating-Harbor syndrome: clinical charact..:

Nikkel, SM ; Dauber, A ; de Munnik, S...
Nikkel , SM , Dauber , A , de Munnik , S , Connolly , M , Hood , RL , Caluseriu , O , Hurst , J , Kini , U , Nowaczyk , MJM , Afenjar , A , Albrecht , B , Allanson , JE , Balestri , P , Ben-Omran , T , Brancati , F , Cordeiro , I , da Cunha , BS , Delaney , LA , Destree , A , FitzPatrick , D , Forzano , F , Ghali , N , Gillies , G , Harwood , K , Hendriks , YMC , Heron , D , Hoischen , A , Honey , EM , Hoefsloot , LH , Ibrahim , J , Jacob , CM , Kant , SG , Kim , CA , Kirk , EP , Knoers , NVAM , Lacombe , D , Lee , C , Lo , IFM , Lucas , LS , Mari , F , Mericq , V , Moilanen , JS , Moller , ST , Moortgat , S , Pilz , DT , Pope , K , Price , S , Renieri , A , Sa , J , Schoots , J , Silveira , EL , Simon , MEH , Slavotinek , A , Temple , IK , van der Burgt , I , de Vries , BBA , Weisfeld-Adams , JD , Whiteford , ML , Wierczorek , D , Wit , JM , Yee , CFO , Beaulieu , CL , White , SM , Bulman , DE , Bongers , E , Brunner , H , Feingold , M & Boycott , KM 2013 , ' The phen....  , 2013
 
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15

Deficiency in SLC25A1, Encoding the Mitochondrial Citrate C..:

Nota, B ; Struys, E.A ; Pop, A...
Nota , B , Struys , E A , Pop , A , Jansen , E E , Ojeda , M R F , Kanhai , W A , Kranendijk , M , van Dooren , S J M , Bevova , M R , Sistermans , E A , Nieuwint , A W M , Barth , M , Ben-Omran , T , Hoffmann , G F , de Lonlay , P , McDonald , M T , Meberg , A , Muntau , A C , Nuoffer , J M , Parini , R , Read , M H , Renneberg , A , Santer , R , Strahleck , T , van Schaftingen , E , van der Knaap , M S , Jakobs , C A J M & Salomons , G S 2013 , ' Deficiency in SLC25A1, Encoding the Mitochondrial Citrate Carrier, Causes Combined D-2-and L-2-Hydroxyglutaric Aciduria ' , American Journal of Human Genetics , vol. 92 , no. 4 , pp. 627-631 . https://doi.org/10.1016/j.ajhg.2013.03.009.  , 2013
 
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