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Author/Creator Yntema, Helger G

1. A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype. Issue 8 (13th April 2016)

Authors:
Beunders, Gea; van de Kamp, Jiddeke; Vasudevan, Pradeep; Morton, Jenny; Smets, Katrien; Kleefstra, Tjitske; de Munnik, Sonja A; Schuurs-Hoeijmakers, Janneke; Ceulemans, Berten; Zollino, Marcella; Hoffjan, Sabine; Wieczorek, Stefan; So, Joyce; Mercer, Leanne; Walker, Tanya; Velsher, Lea; Parker, M...
Journal:
Journal of medical genetics
Issue:
Volume 53:Issue 8(2016)
Page Start:
523
Record Type:
Journal Article
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2. A RIPOR2 in-frame deletion is a frequent and highly penetrant cause of adult-onset hearing loss. Issue 2 (6th July 2020)

Authors:
de Bruijn, Suzanne E; Smits, Jeroen J; Liu, Chang; Lanting, Cornelis P; Beynon, Andy J; Blankevoort, Joëlle; Oostrik, Jaap; Koole, Wouter; de Vrieze, Erik; Cremers, Cor W R J; Cremers, Frans P M; Roosing, Susanne; Yntema, Helger G; Kunst, Henricus P M; Zhao, Bo; Pennings, Ronald J E; Kremer, Hannie
Other Names:
author non-byline.; van Dooren M F author non-byline.; de Gier H H W author non-byline.; Hoefsloot E H author non-byline.; van der Schroeff M P author non-byline.; Kant S G author non-byline.; Rotteveel L J C author non-byline.; Ropers F G author non-byline.; Widdershoven J C C author non-byline...
Journal:
Journal of medical genetics
Issue:
Volume 58:Issue 2(2021)
Page Start:
96
Record Type:
Journal Article
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3. De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy. Issue 5 (27th February 2015)

Authors:
Blanchard, Maxime G; Willemsen, Marjolein H; Walker, Jaclyn B; Dib-Hajj, Sulayman D; Waxman, Stephen G; Jongmans, Marjolijn CJ; Kleefstra, Tjitske; van de Warrenburg, Bart P; Praamstra, Peter; Nicolai, Joost; Yntema, Helger G; Bindels, René JM; Meisler, Miriam H; Kamsteeg, Erik-Jan
Journal:
Journal of medical genetics
Issue:
Volume 52:Issue 5(2015)
Page Start:
330
Record Type:
Journal Article
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4. GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila. Issue 8 (4th May 2013)

Authors:
Willemsen, Marjolein H; Nijhof, Bonnie; Fenckova, Michaela; Nillesen, Willy M; Bongers, Ernie M H F; Castells-Nobau, Anna; Asztalos, Lenke; Viragh, Erika; van Bon, Bregje W M; Tezel, Emre; Veltman, Joris A; Brunner, Han G; de Vries, Bert B A; de Ligt, Joep; Yntema, Helger G; van Bokhoven, Hans; I...
Journal:
Journal of medical genetics
Issue:
Volume 50:Issue 8(2013)
Page Start:
507
Record Type:
Journal Article
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5. Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa. Issue 9 (25th April 2017)

Authors:
Nguyen, Thanh-Minh T; Hull, Sarah; Roepman, Ronald; van den Born, L Ingeborgh; Oud, Machteld M; de Vrieze, Erik; Hetterschijt, Lisette; Letteboer, Stef J F; van Beersum, Sylvia E C; Blokland, Ellen A; Yntema, Helger G; Cremers, Frans P M; van der Zwaag, Paul A; Arno, Gavin; van Wijk, Erwin; Webst...
Journal:
Journal of medical genetics
Issue:
Volume 54:Issue 9(2017)
Page Start:
624
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗