Search

Author/Creator van Woerden, Geeske M.

1. 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
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. Netrin‐G2 dysfunction causes a Rett‐like phenotype with areflexia. Issue 2 (15th November 2019)

Authors:
Heimer, Gali; van Woerden, Geeske M.; Barel, Ortal; Marek‐Yagel, Dina; Kol, Nitzan; Munting, Johannes B.; Borghei, Minoeshka; Atawneh, Osama M.; Nissenkorn, Andreea; Rechavi, Gideon; Anikster, Yair; Elgersma, Ype; Kushner, Steven A.; Ben Zeev, Bruria
Journal:
Human mutation
Issue:
Volume 41:Issue 2(2020)
Page Start:
476
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development. Issue 4 (1st March 2021)

Authors:
van Woerden, Geeske M.; Bos, Melanie; de Konink, Charlotte; Distel, Ben; Avagliano Trezza, Rossella; Shur, Natasha E.; Barañano, Kristin; Mahida, Sonal; Chassevent, Anna; Schreiber, Allison; Erwin, Angelika L.; Gripp, Karen W.; Rehman, Fatima; Brulleman, Saskia; McCormack, Róisín; de Geus, Gwynna...
Journal:
Human mutation
Issue:
Volume 42:Issue 4(2021)
Page Start:
445
Record Type:
Journal Article
View Content:
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) ↗