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Author/Creator Elgersma, Ype

1. A novel UBE3A sequence variant identified in eight related individuals with neurodevelopmental delay, results in a phenotype which does not match the clinical criteria of Angelman syndrome. Issue 11 (5th September 2020)

Authors:
Geerts‐Haages, Amber; Bossuyt, Stijn N. V.; den Besten, Inge; Bruggenwirth, Hennie; van der Burgt, Ineke; Yntema, Helger G.; Punt, A. Mattijs; Brooks, Alice; Elgersma, Ype; Distel, Ben; Valstar, Marlies
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 8:Issue 11(2020)
Page Start:
n/a
Record Type:
Journal Article
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2. A novel UBE3A sequence variant identified in eight related individuals with neurodevelopmental delay, results in a phenotype which does not match the clinical criteria of Angelman syndrome. Issue 11 (5th September 2020)

Authors:
Geerts‐Haages, Amber; Bossuyt, Stijn N. V.; den Besten, Inge; Bruggenwirth, Hennie; van der Burgt, Ineke; Yntema, Helger G.; Punt, A. Mattijs; Brooks, Alice; Elgersma, Ype; Distel, Ben; Valstar, Marlies
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 8:Issue 11(2020)
Page Start:
n/a
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. A randomized controlled trial with everolimus for IQ and autism in tuberous sclerosis complex. (9th July 2019)

Authors:
Overwater, Iris E.; Rietman, André B.; Mous, Sabine E.; Bindels-de Heus, Karen; Rizopoulos, Dimitris; ten Hoopen, Leontine W.; van der Vaart, Thijs; Jansen, Floor E.; Elgersma, Ype; Moll, Henriette A.; de Wit, Marie-Claire Y.
Journal:
Neurology
Issue:
Volume 93:Number 2(2019)
Page Start:
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

4. An overview of health issues and development in a large clinical cohort of children with Angelman syndrome. Issue 1 (15th November 2019)

Authors:
Bindels‐de Heus, Karen G. C. B.; Mous, Sabine E.; ten Hooven‐Radstaake, Maartje; van Iperen‐Kolk, Bianca M.; Navis, Cindy; Rietman, André B.; ten Hoopen, Leontine W.; Brooks, Alice S.; Elgersma, Ype; Moll, Henriëtte A.; de Wit, Marie‐Claire Y.
Journal:
American journal of medical genetics
Issue:
Volume 182:Issue 1(2020)
Page Start:
53
Record Type:
Journal Article
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10. Corrigendum to "The Learning Disabilities Network (LeaDNet): Using Neurofibromatosis Type 1 [NF1] as a Paradigm for Translational Research"1. Issue 1 (24th December 2012)

Authors:
Acosta, Maria T.; Bearden, Carrie E.; Castellanos, Xavier F.; Cutting, Laurie; Elgersma, Ype; Gioia, Gerard; Gutmann, David H.; Lee, Yong‐Seok; Legius, Eric; Muenke, Maximillian; North, Kathryn; Parada, Luis F.; Ratner, Nancy; Hunter‐Schaedle, Kim; Silva, Alcino J.
Journal:
American journal of medical genetics
Issue:
Volume 161:Issue 1(2013:Jan.)
Page Start:
236
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗