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Author/Creator van Bon, Bregje W.

2. Cover Image, Volume 39, Issue 12. Issue 12 (17th November 2018)

Authors:
Proietti Onori, Martina; Koopal, Balwina; Everman, David B.; Worthington, Jessica D.; Jones, Julie R.; Ploeg, Melissa A.; Mientjes, Edwin; van Bon, Bregje W.; Kleefstra, Tjitske; Schulman, Howard; Kushner, Steven A.; Küry, Sébastien; Elgersma, Ype; van Woerden, Geeske M.
Journal:
Human mutation
Issue:
Volume 39:Issue 12(2018)
Page Start:
i
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. Early presentation of cystic kidneys in a family with a homozygous INVS mutation. Issue 7 (26th March 2014)

Authors:
Oud, Machteld M.; van Bon, Bregje W.; Bongers, Ernie M. H. F.; Hoischen, Alexander; Marcelis, Carlo L.; de Leeuw, Nicole; Mol, Suzanne J. J.; Mortier, Geert; Knoers, Nine V. A. M.; Brunner, Han G.; Roepman, Ronald; Arts, Heleen H.
Journal:
American journal of medical genetics
Issue:
Volume 164:Issue 7(2014.)
Page Start:
1627
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

4. The intellectual disability‐associated CAMK2G p.Arg292Pro mutation acts as a pathogenic gain‐of‐function. Issue 12 (19th September 2018)

Authors:
Proietti Onori, Martina; Koopal, Balwina; Everman, David B.; Worthington, Jessica D.; Jones, Julie R.; Ploeg, Melissa A.; Mientjes, Edwin; van Bon, Bregje W.; Kleefstra, Tjitske; Schulman, Howard; Kushner, Steven A.; Küry, Sébastien; Elgersma, Ype; van Woerden, Geeske M.
Journal:
Human mutation
Issue:
Volume 39:Issue 12(2018)
Page Start:
2008
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

5. The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations. Issue 10 (29th July 2022)

Authors:
van Woerden, Geeske M.; Senden, Richelle; de Konink, Charlotte; Trezza, Rossella A.; Baban, Anwar; Bassetti, Jennifer A.; van Bever, Yolande; Bird, Lynne M.; van Bon, Bregje W.; Brooks, Alice S.; Guan, Qiaoning; Klee, Eric W.; Marcelis, Carlo; Rosado, Joel M.; Schimmenti, Lisa A.; Shikany, Amy R....
Journal:
Human mutation
Issue:
Volume 43:Issue 10(2022)
Page Start:
1377
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗