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Demirdas, Serwet
67
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Online (67)
Mediatypes
Articles (Online) (29)
OpenAccess-fulltext (38)
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1
Germline ERG haploinsufficiency defines a new syndrome with..:
Zerella, Jiarna Rose
;
Homan, Claire C
;
Arts, Peer
...
Blood Journal. , 2024
Link:
https://doi.org/10.1182/..
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2
Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural Hi..:
Demirdas, Serwet
;
van den Bersselaar, Lisa M.
;
Lechner, Rosan
...
Circulation: Genomic and Precision Medicine. 17 (2024) 3 - p. , 2024
Link:
https://doi.org/10.1161/..
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3
Impressive clinical improvement and disappearance of neurop..:
Zervou, Zografia
;
Plooij, Roel
;
van Velsen, Evert F.S.
...
European Journal of Medical Genetics. 68 (2024) - p. 104915 , 2024
Link:
https://doi.org/10.1016/..
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4
Management of childbearing with hypermobile Ehlers-Danlos s..:
Pezaro, Sally
;
Brock, Isabelle
;
Buckley, Maggie
...
PLOS ONE. 19 (2024) 5 - p. e0302401 , 2024
Link:
https://doi.org/10.1371/..
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5
Osteosclerotic Metaphyseal Dysplasia Due to a Likely Pathog..:
van Velsen, Evert F.S.
;
Demirdas, Serwet
;
Hanff, David
.
JBMR Plus. 7 (2023) 8 - p. , 2023
Link:
https://doi.org/10.1002/..
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6
Early-Onset Pectus Excavatum Is More Likely to Be Part of a..:
Billar, Ryan
;
Heyman, Stijn
;
Kant, Sarina
...
European Journal of Pediatric Surgery. 34 (2023) 4 - p. 325-332 , 2023
Link:
https://doi.org/10.1055/..
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7
DNA methylation episignature for Witteveen-Kolk syndrome du..:
Coenen-van der Spek, Jet
;
Relator, Raissa
;
Kerkhof, Jennifer
...
Genetics in Medicine. 25 (2023) 1 - p. 63-75 , 2023
Link:
https://doi.org/10.1016/..
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8
Commentary: The mutations and clinical variability in mater..:
van de Peppel, Ivo P.
;
Demirdas, Serwet
;
Özcan, Behiye
Frontiers in Endocrinology. 14 (2023) - p. , 2023
Link:
https://doi.org/10.3389/..
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9
TheMAP3K7gene: Further delineation of clinical characterist..:
van Woerden, Geeske M.
;
Senden, Richelle
;
de Konink, Charlotte
...
Human Mutation. 43 (2022) 10 - p. 1377-1395 , 2022
Link:
https://doi.org/10.1002/..
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10
Integration of metabolomics with genomics: Metabolic gene p..:
Bongaerts, Michiel
;
Bonte, Ramon
;
Demirdas, Serwet
...
Molecular Genetics and Metabolism. 136 (2022) 3 - p. 199-218 , 2022
Link:
https://doi.org/10.1016/..
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11
Specific delivering of RNAi using Spike's aptamer‐functiona..:
Saify Nabiabad, Haidar
;
Amini, Massoume
;
Demirdas, Serwet
Chemical Biology & Drug Design. 99 (2021) 2 - p. 233-246 , 2021
Link:
https://doi.org/10.1111/..
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12
Prevalence of monogenic bone disorders in a Dutch cohort of..:
Zhou, Wei
;
van Rooij, Jeroen
;
van de Laarschot, Denise
...
Bone Reports. 14 (2021) - p. 100789 , 2021
Link:
https://doi.org/10.1016/..
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13
Association between pectus excavatum and congenital genetic..:
Billar, Ryan J.
;
Manoubi, Wiem
;
Kant, Sarina G.
...
Journal of Pediatric Surgery. 56 (2021) 12 - p. 2239-2252 , 2021
Link:
https://doi.org/10.1016/..
?
14
Comprehensive study of 28 individuals with SIN3A-related di..:
Balasubramanian, Meena
;
Dingemans, Alexander J. M.
;
Albaba, Shadi
...
European Journal of Human Genetics. 29 (2021) 4 - p. 625-636 , 2021
Link:
https://doi.org/10.1038/..
?
15
Mucolipidosis type II and type III: a systematic review of ..:
Dogterom, Emma J.
;
Wagenmakers, Margreet A.E.M.
;
Wilke, Martina
...
Genetics in Medicine. 23 (2021) 11 - p. 2047-2056 , 2021
Link:
https://doi.org/10.1038/..
1-15