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	1.	Tetraspan proteins: regulators of renal structure and function. [electronic resource] by Caplan, Michael J Kamsteeg, Erik-Jan Duffield, Amy Producer: 20070802 In: Current opinion in nephrology and hypertension vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Clinical utility gene card for: Gitelman syndrome. [electronic resource] by Knoers, Nine Vam Devuyst, Olivier Kamsteeg, Erik-Jan Producer: 20110928 In: European journal of human genetics : EJHG vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Complicated hereditary spastic paraplegia due to ATP13A2 mutations: what's in a name? [electronic resource] by de Bot, Susanne Kamsteeg, Erik-Jan Van De Warrenburg, Bart P C Producer: 20190516 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)
	4.	A MID1 mutation associated with reduced penetrance of X-linked Opitz G/BBB syndrome. [electronic resource] by Ruiter, Mariken Kamsteeg, Erik-Jan Meroni, Germana de Vries, Bert B A Producer: 20110103 In: Clinical dysmorphology vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	A brother and sister with intellectual disability and characteristic neuroimaging findings. [electronic resource] by Hermens, Marjolein van der Knaap, Marjo S Kamsteeg, Erik-Jan Willemsen, Michèl A Producer: 20181211 In: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	The tetraspanin CD63 enhances the internalization of the H,K-ATPase beta-subunit. [electronic resource] by Duffield, Amy Kamsteeg, Erik-Jan Brown, Andrea N Pagel, Philipp Caplan, Michael J Producer: 20040420 In: Proceedings of the National Academy of Sciences of the United States of America vol. 100 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Development of lithium-induced nephrogenic diabetes insipidus is dissociated from adenylyl cyclase activity. [electronic resource] by Li, Yuedan Shaw, Stephen Kamsteeg, Erik-Jan Vandewalle, Alain Deen, Peter M T Producer: 20060928 In: Journal of the American Society of Nephrology : JASN vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Loss-of-function mutation in RUSC2 causes intellectual disability and secondary microcephaly. [electronic resource] by Alwadei, Ali H Benini, Ruba Mahmoud, Adel Alasmari, Ali Kamsteeg, Erik-Jan Alfadhel, Majid Producer: 20170510 In: Developmental medicine and child neurology vol. 58 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Repulsion between Lys258 and upstream arginines explains the missorting of the AQP2 mutant p.Glu258Lys in nephrogenic diabetes insipidus. [electronic resource] by Kamsteeg, Erik-Jan Stoffels, Monique Tamma, Grazia Konings, Irene B M Deen, Peter M T Producer: 20091215 In: Human mutation vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Paroxysmal Kinesigenic Dyskinesia: First Molecularly Confirmed Case from Africa. [electronic resource] by Dekker, Marieke C J Chengo, Rose Kumburu, Happiness H Kamsteeg, Erik-Jan Hamel, Ben C Producer: 20211011 In: Tremor and other hyperkinetic movements (New York, N.Y.) vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Hereditary spastic paraplegia caused by a mutation in the VCP gene. [electronic resource] by de Bot, Susanne T Schelhaas, Helenius J Kamsteeg, Erik-Jan van de Warrenburg, Bart P C Producer: 20130215 In: Brain : a journal of neurology vol. 135 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Cerebrospinal fluid analysis in the workup of GLUT1 deficiency syndrome: a systematic review. [electronic resource] by Leen, Wilhelmina G Wevers, Ron A Kamsteeg, Erik-Jan Scheffer, Hans Verbeek, Marcel M Willemsen, Michèl A Producer: 20131230 In: JAMA neurology vol. 70 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	RasGRP1 stimulation enhances ubiquitination and endocytosis of the sodium-chloride cotransporter. [electronic resource] by Ko, Benjamin Kamsteeg, Erik-Jan Cooke, Leslie L Moddes, Lauren N Deen, Peter M T Hoover, Robert S Producer: 20100903 In: American journal of physiology. Renal physiology vol. 299 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Glucose transporter-1 (GLUT1) deficiency syndrome: diagnosis and treatment in late childhood. [electronic resource] by Gramer, Gwendolyn Wolf, Nicole I Vater, Daniel Bast, Thomas Santer, René Kamsteeg, Erik-Jan Wevers, Ron A Ebinger, Friedrich Producer: 20121106 In: Neuropediatrics vol. 43 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	Movement disorders in GLUT1 deficiency syndrome respond to the modified Atkins diet. [electronic resource] by Leen, Wilhelmina G Mewasingh, Leena Verbeek, Marcel M Kamsteeg, Erik-Jan van de Warrenburg, Bart P Willemsen, Michel A Producer: 20140509 In: Movement disorders : official journal of the Movement Disorder Society vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	The Genetic Homogeneity of CAPOS Syndrome: Four New Patients With the c.2452G>A (p.Glu818Lys) Mutation in the ATP1A3 Gene. [electronic resource] by Maas, Roderick P P W M Schieving, Jolanda H Schouten, Meyke Kamsteeg, Erik-Jan van de Warrenburg, Bart P C Producer: 20171215 In: Pediatric neurology vol. 59 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	A Novel TTBK2 De Novo Mutation in a Danish Family with Early-Onset Spinocerebellar Ataxia. [electronic resource] by Lindquist, Suzanne Granhøj Møller, Lisbeth Birk Dali, Christine I Marner, Lisbeth Kamsteeg, Erik-Jan Nielsen, Jørgen Erik Hjermind, Lena Elisabeth Producer: 20170926 In: Cerebellum (London, England) vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	KIF16B is a candidate gene for a novel autosomal-recessive intellectual disability syndrome. [electronic resource] by Alsahli, Saud Arold, Stefan T Alfares, Ahmed Alhaddad, Bader Al Balwi, Mohammed Kamsteeg, Erik-Jan Al-Twaijri, Waleed Alfadhel, Majid Producer: 20190520 In: American journal of medical genetics. Part A vol. 176 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	Coenzyme Q10 deficiency due to a COQ4 gene defect causes childhood-onset spinocerebellar ataxia and stroke-like episodes. [electronic resource] by Bosch, Annet M Kamsteeg, Erik-Jan Rodenburg, Richard J van Deutekom, Arend W Buis, Dennis R Engelen, Marc Cobben, Jan-Maarten Publication details: Molecular genetics and metabolism reports Dec 2018 In: Molecular genetics and metabolism reports vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	20.	MAL decreases the internalization of the aquaporin-2 water channel. [electronic resource] by Kamsteeg, Erik-Jan Duffield, Amy S Konings, Irene B M Spencer, Joanna Pagel, Philipp Deen, Peter M T Caplan, Michael J Producer: 20071213 In: Proceedings of the National Academy of Sciences of the United States of America vol. 104 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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