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Author/Creator Bouman, Karlijn

1. Clinical, genetic, and histological features of centronuclear myopathy in the Netherlands. Issue 6 (25th September 2021)

Authors:
Reumers, Stacha F. I.; Erasmus, Corrie E.; Bouman, Karlijn; Pennings, Maartje; Schouten, Meyke; Kusters, Benno; Duijkers, Floor A. M.; van der Kooi, Anneke; Jaeger, Bregje; Verschuuren‐Bemelmans, Corien C.; Faber, Catharina G.; van Engelen, Baziel G.; Kamsteeg, Erik‐Jan; Jungbluth, Heinz; Voerman...
Journal:
Clinical genetics
Issue:
Volume 100:Issue 6(2021)
Page Start:
692
Record Type:
Journal Article
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2. KBTBD13 is a novel cardiomyopathy gene. Issue 12 (20th November 2022)

Authors:
de Winter, Josine M.; Bouman, Karlijn; Strom, Joshua; Methawasin, Mei; Jongbloed, Jan D. H.; van der Roest, Wilma; Wijngaarden, Jan van; Timmermans, Janneke; Nijveldt, Robin; van den Heuvel, Frederik; Kamsteeg, Erik‐Jan; van Engelen, Baziel G.; Galli, Ricardo; Bogaards, Sylvia J. P.; Boon, Reinie...
Journal:
Human mutation
Issue:
Volume 43:Issue 12(2022)
Page Start:
1860
Record Type:
Journal Article
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3. NEM6, KBTBD13-Related Congenital Myopathy: Myopathological Analysis in 18 Dutch Patients Reveals Ring Rods Fibers, Cores, Nuclear Clumps, and Granulo-Filamentous Protein Material. Issue 4 (7th March 2021)

Authors:
Bouman, Karlijn; Küsters, Benno; De Winter, Josine M; Gillet, Cynthia; Van Kleef, Esmee S B; Eshuis, Lilian; Brochier, Guy; Madelaine, Angeline; Labasse, Clémence; Boulogne, Claire; Van Engelen, Baziel G M; Ottenheijm, Coen A C; Romero, Norma B; Voermans, Nicol C; Malfatti, Edoardo
Journal:
Journal of neuropathology and experimental neurology
Issue:
Volume 80:Issue 4(2021)
Page Start:
366
Record Type:
Journal Article
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4. Neuromuscular Features in XL-MTM Carriers: A Cross-sectional Study in an Unselected Cohort. (15th November 2022)

Authors:
Franken, Daniëlle K.; Bouman, Karlijn; Reumers, Stacha F. I.; Braun, Frederik; Spillane, Jennifer; Pennings, Maartje; Houwen, Saskia L.S.; Erasmus, Corrie E.; Schara-Schmidt, Ulrike; Kamsteeg, Erik-Jan; Jungbluth, Heinz; Voermans, Nicol C.
Journal:
Neurology
Issue:
Volume 99:Number 20(2022)
Page Start:
e2223
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗