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	1.	Importance of aquaporin-2 expression levels in genotype -phenotype studies in nephrogenic diabetes insipidus. [electronic resource] by Kamsteeg, E J Deen, P M Producer: 20001030 In: American journal of physiology. Renal physiology vol. 279 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Detection of aquaporin-2 in the plasma membranes of oocytes: a novel isolation method with improved yield and purity. [electronic resource] by Kamsteeg, E J Deen, P M Producer: 20010628 In: Biochemical and biophysical research communications vol. 282 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Defective processing and trafficking of water channels in nephrogenic diabetes insipidus. [electronic resource] by Kamsteeg, E J Deen, P M van Os, C H Producer: 20001101 In: Experimental nephrology vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Routing of the aquaporin-2 water channel in health and disease. [electronic resource] by Deen, P M van Balkom, B W Kamsteeg, E J Producer: 20010118 In: European journal of cell biology vol. 79 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	The subcellular localization of an aquaporin-2 tetramer depends on the stoichiometry of phosphorylated and nonphosphorylated monomers. [electronic resource] by Kamsteeg, E J Heijnen, I van Os, C H Deen, P M Producer: 20001222 In: The Journal of cell biology vol. 151 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Paroxysmal sensory (spinal) attacks without hyperexplexia in a patient with a variant in the GLRA1 gene. [electronic resource] by Zwarts, M J Willemsen, M H Kamsteeg, E-J Schelhaas, H J Producer: 20190408 In: Journal of the neurological sciences vol. 378 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Phsyiological relevance of aquaporins: luxury or necessity? [electronic resource] by van Os, C H Kamsteeg, E J Marr, N Deen, P M Producer: 20001207 In: Pflugers Archiv : European journal of physiology vol. 440 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Nephrogenic diabetes insipidus. [electronic resource] by Deen, P M Marr, N Kamsteeg, E J van Balkom, B W Producer: 20010222 In: Current opinion in nephrology and hypertension vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Functionality of aquaporin-2 missense mutants in recessive nephrogenic diabetes insipidus. [electronic resource] by Marr, N Kamsteeg, E J van Raak, M van Os, C H Deen, P M Producer: 20011101 In: Pflugers Archiv : European journal of physiology vol. 442 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	"Human Stress Syndrome" and the Expanding Spectrum of RYR1-Related Myopathies. [electronic resource] by Snoeck, M Treves, S Molenaar, J P Kamsteeg, E J Jungbluth, H Voermans, N C Producer: 20160714 In: Cell biochemistry and biophysics vol. 74 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Consequences of aquaporin 2 tetramerization for genetics and routing. [electronic resource] by Kamsteeg, E J Mulders, S M Bichet, D G Deen, P M van Os, C Producer: 20010301 In: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association vol. 15 Suppl 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Autosomal recessive inheritance of GLUT1 deficiency syndrome. [electronic resource] by Klepper, J Scheffer, H Elsaid, M F Kamsteeg, E-J Leferink, M Ben-Omran, T Producer: 20100615 In: Neuropediatrics vol. 40 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	A Feingold syndrome case with previously undescribed features and a new mutation. [electronic resource] by Koçak, H Ozaydin, E Köse, G Marcelis, C L M Kamsteeg, E J Ceylaner, S Producer: 20091116 In: Genetic counseling (Geneva, Switzerland) vol. 20 Availability: No items available. Save to lists Add to cart (remove)
	14.	An impaired routing of wild-type aquaporin-2 after tetramerization with an aquaporin-2 mutant explains dominant nephrogenic diabetes insipidus. [electronic resource] by Kamsteeg, E J Wormhoudt, T A Rijss, J P van Os, C H Deen, P M Producer: 19990628 In: The EMBO journal vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	Freeman-Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan Africa. [electronic resource] by Ali, A M Mbwasi, R M Kinabo, G Kamsteeg, E-J Hamel, B C Dekker, M C J Publication details: Case reports in genetics 2017 In: Case reports in genetics vol. 2017 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	Compound RYR1 heterozygosity resulting in a complex phenotype of malignant hyperthermia susceptibility and a core myopathy. [electronic resource] by Kraeva, N Heytens, L Jungbluth, H Treves, S Voermans, N Kamsteeg, E Ceuterick-de Groote, C Baets, J Riazi, S Producer: 20160314 In: Neuromuscular disorders : NMD vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	GLUT1 deficiency syndrome into adulthood: a follow-up study. [electronic resource] by Leen, W G Taher, M Verbeek, M M Kamsteeg, E J van de Warrenburg, B P Willemsen, M A Producer: 20141223 In: Journal of neurology vol. 261 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	Mobility Characteristics of Children with Spastic Paraplegia Due to a Mutation in the KIF1A Gene. [electronic resource] by Van Beusichem, A E Nicolai, J Verhoeven, J Speth, L Coenen, M Willemsen, M A Kamsteeg, E J Stumpel, C Vermeulen, R J Producer: 20210205 In: Neuropediatrics vol. 51 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	Understanding the Psychosocial Effects of WES Test Results on Parents of Children with Rare Diseases. [electronic resource] by Krabbenborg, Lotte Vissers, L E L M Schieving, J Kleefstra, T Kamsteeg, E J Veltman, J A Willemsen, M A Van der Burg, S Producer: 20170920 In: Journal of genetic counseling vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	20.	Fever-induced recurrent rhabdomyolysis due to a novel mutation in the ryanodine receptor type 1 gene. [electronic resource] by Molenaar, J P Voermans, N C van Hoeve, B J Kamsteeg, E J Kluijtmans, L A Kusters, B Jungbluth, H J van Engelen, B G Producer: 20151102 In: Internal medicine journal vol. 44 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 36 results.