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	1.	Using the shared genetics of dystonia and ataxia to unravel their pathogenesis. [electronic resource] by Nibbeling, Esther A R Delnooz, Cathérine C S de Koning, Tom J Sinke, Richard J Jinnah, Hyder A Tijssen, Marina A J Verbeek, Dineke S Producer: 20171024 In: Neuroscience and biobehavioral reviews vol. 75 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Spinocerebellar ataxia type 19/22 mutations alter heterocomplex Kv4.3 channel function and gating in a dominant manner. [electronic resource] by Duarri, Anna Lin, Meng-Chin A Fokkens, Michiel R Meijer, Michel Smeets, Cleo J L M Nibbeling, Esther A R Boddeke, Erik Sinke, Richard J Kampinga, Harm H Papazian, Diane M Verbeek, Dineke S Producer: 20151029 In: Cellular and molecular life sciences : CMLS vol. 72 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Functional analysis helps to define KCNC3 mutational spectrum in Dutch ataxia cases. [electronic resource] by Duarri, Anna Nibbeling, Esther A R Fokkens, Michiel R Meijer, Michel Boerrigter, Melissa Verschuuren-Bemelmans, Corien C Kremer, Berry P H van de Warrenburg, Bart P Dooijes, Dennis Boddeke, Erik Sinke, Richard J Verbeek, Dineke S Producer: 20160113 In: PloS one vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	From diagnostic yield to clinical impact: a pilot study on the implementation of prenatal exome sequencing in routine care. [electronic resource] by de Koning, Maayke A Haak, Monique C Adama van Scheltema, Phebe N Peeters-Scholte, Cacha M P C D Koopmann, Tamara T Nibbeling, Esther A R Aten, Emmelien den Hollander, Nicolette S Ruivenkamp, Claudia A L Hoffer, Mariëtte J V Santen, Gijs W E Producer: 20200317 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia. [electronic resource] by Nibbeling, Esther A R Duarri, Anna Verschuuren-Bemelmans, Corien C Fokkens, Michiel R Karjalainen, Juha M Smeets, Cleo J L M de Boer-Bergsma, Jelkje J van der Vries, Gerben Dooijes, Dennis Bampi, Giovana B van Diemen, Cleo Brunt, Ewout Ippel, Elly Kremer, Berry Vlak, Monique Adir, Noam Wijmenga, Cisca van de Warrenburg, Bart P C Franke, Lude Sinke, Richard J Verbeek, Dineke S Producer: 20171107 In: Brain : a journal of neurology vol. 140 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Putting genome-wide sequencing in neonates into perspective. [electronic resource] by van der Sluijs, Pleuntje J Aten, Emmelien Barge-Schaapveld, Daniela Q C M Bijlsma, Emilia K Bökenkamp-Gramann, Regina Donker Kaat, Laura van Doorn, Remco van de Putte, Dietje Fransen van Haeringen, Arie Ten Harkel, Arend D J Hilhorst-Hofstee, Yvonne Hoffer, Mariette J V den Hollander, Nicolette S van Ierland, Yvette Koopmans, Marije Kriek, Marjolein Moghadasi, Setareh Nibbeling, Esther A R Peeters-Scholte, Cacha M P C D Potjer, Thomas P van Rij, Maartje Ruivenkamp, Claudia A L Rutten, Julie W Steggerda, Sylke J Suerink, Manon Tan, Ratna N G B van der Tuin, Karin Visser, Remco van der Werf-'t Lam, Anne-Sophie Williams, Monique Witlox, Ruben Santen, Gijs W E Producer: 20200213 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Correction: Putting genome-wide sequencing in neonates into perspective. [electronic resource] by van der Sluijs, Pleuntje J Aten, Emmelien Barge-Schaapveld, Daniela Q C M Bijlsma, Emilia K Bökenkamp-Gramann, Regina Kaat, Laura Donker van Doorn, Remco van de Putte, Dietje Fransen van Haeringen, Arie Ten Harkel, Arend D J Hilhorst-Hofstee, Yvonne Hoffer, Mariette J V den Hollander, Nicolette S van Ierland, Yvette Koopmans, Marije Kriek, Marjolein Moghadasi, Setareh Nibbeling, Esther A R Peeters-Scholte, Cacha M P C D Potjer, Thomas P van Rij, Maartje Ruivenkamp, Claudia A L Rutten, Julie W Steggerda, Sylke J Suerink, Manon Tan, Ratna N G B van der Tuin, Karin Visser, Remco van der Werf-'t Lam, Anne-Sophie Williams, Monique Witlox, Ruben Santen, Gijs W E Publication details: Genetics in medicine : official journal of the American College of Medical Genetics Sep 2019 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)