Sadikovic, Bekim
220  Ergebnisse:
Personensuche X
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2

Delineation of a KDM2B-related neurodevelopmental disorder ..:

van Jaarsveld, Richard H ; Reilly, Jack ; Cornips, Marie Claire...
https://research.rug.nl/en/publications/0fc76428-2e26-4b91-94b3-63a3514ac0d6.  , 2023
 
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DNA methylation episignature for Witteveen-Kolk syndrome du..:

Coenen-van der Spek, Jet ; Relator, Raissa ; Kerkhof, Jennifer...
https://research.rug.nl/en/publications/c3f7cffc-f34d-4596-879e-5fe8eca6c724.  , 2023
 
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OMIXCARE: OMICS technologies solved about 33% of the patien..:

Colin, Estelle ; Duffourd, Yannis ; Tisserant, Emilie...
info:eu-repo/semantics/altIdentifier/doi/10.3389/fcell.2022.1021785.  , 2022
 
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14

Bi-allelic loss-of-function variants in TMEM147 cause moder..:

Thomas, Quentin ; Motta, Marialetizia ; Gautier, Thierry...
Thomas , Q , Motta , M , Gautier , T , Zaki , M S , Ciolfi , A , Paccaud , J , Girodon , F , Boespflug-Tanguy , O , Besnard , T , Kerkhof , J , McConkey , H , Masson , A , Denommé-Pichon , A-S , Cogné , B , Trochu , E , Vignard , V , El It , F , Rodan , L H , Alkhateeb , M A , Jamra , R A , Duplomb , L , Tisserant , E , Duffourd , Y , Bruel , A-L , Jackson , A , Banka , S , McEntagart , M , Saggar , A , Gleeson , J G , Sievert , D , Bae , H , Lee , B H , Kwon , K , Seo , G H , Lee , H , Saeed , A , Anjum , N , Cheema , H , Alawbathani , S , Pinto-Basto , J , Teoh , J , Wong , J , Sahari , U B M , Houlden , H , Zhelcheska , K , Pannetier , M , Awad , M A , Lesieur-Sebellin , M , Barcia , G , Amiel , J , Delanne , J , Philippe , C , Faivre , L , Odent , S , Bertoli-Avella , A , Thauvin , C , Sadikovic , B , Reversade , B , Maroofian , R , Govin , J , Tartaglia , M & Vitobello , A 2022 , ' Bi-allelic loss-of-function variants in TMEM147 cause moderate to profoun....  , 2022
 
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Clinical Utility of a Unique Genome-Wide DNA Methylation Si..:

Foroutan, Aidin ; Haghshenas, Sadegheh ; Bhai, Pratibha...
Foroutan , A , Haghshenas , S , Bhai , P , Levy , M A , Kerkhof , J , McConkey , H , Niceta , M , Ciolfi , A , Pedace , L , Miele , E , Genevieve , D , Heide , S , Alders , M , Zampino , G , Merla , G , Fradin , M , Bieth , E , Bonneau , D , Dieterich , K , Fergelot , P , Schaefer , E , Faivre , L , Vitobello , A , Maitz , S , Fischetto , R , Gervasini , C , Piccione , M , van de Laar , I , Tartaglia , M , Sadikovic , B & Lebre , A S 2022 , ' Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome ' , International Journal of Molecular Sciences , vol. 23 , no. 3 , 1815 . https://doi.org/10.3390/ijms23031815.  , 2022
 
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