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Author/Creator Kooy, R Frank

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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5. Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes. Issue 5 (7th May 2010)

Authors:
Bruno, Damien L; Anderlid, Britt-Marie; Lindstrand, Anna; van Ravenswaaij-Arts, Conny; Ganesamoorthy, Devika; Lundin, Johanna; Martin, Christa Lese; Douglas, Jessica; Nowak, Catherine; Adam, Margaret P; Kooy, R Frank; Van der Aa, Nathalie; Reyniers, Edwin; Vandeweyer, Geert; Stolte-Dijkstra, Iren...
Journal:
Journal of medical genetics
Issue:
Volume 47:Issue 5(2010)
Page Start:
299
Record Type:
Journal Article
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6. Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15. (1st May 2019)

Authors:
Cheng, Hanyin; Gottlieb, Leah; Marchi, Elaine; Kleyner, Robert; Bhardwaj, Puja; Rope, Alan F; Rosenheck, Sarah; Moutton, Sébastien; Philippe, Christophe; Eyaid, Wafaa; Alkuraya, Fowzan S; Toribio, Janet; Mena, Rafael; Prada, Carlos E; Stessman, Holly; Bernier, Raphael; Wermuth, Marieke; Kauffmann...
Journal:
Human molecular genetics
Issue:
Volume 28:Number 17(2019)
Page Start:
2900
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

7. Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15. (6th February 2020)

Authors:
Cheng, Hanyin; Gottlieb, Leah; Marchi, Elaine; Kleyner, Robert; Bhardwaj, Puja; Rope, Alan F; Rosenheck, Sarah; Moutton, Sébastien; Philippe, Christophe; Eyaid, Wafaa; Alkuraya, Fowzan S; Toribio, Janet; Mena, Rafael; Prada, Carlos E; Stessman, Holly; Bernier, Raphael; Wermuth, Marieke; Kauffmann...
Journal:
Human molecular genetics
Issue:
Volume 29:Number 5(2020)
Page Start:
877
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗