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	1.	X-linked creatine transporter deficiency: clinical aspects and pathophysiology. [electronic resource] by van de Kamp, Jiddeke M Mancini, Grazia M Salomons, Gajja S Producer: 20150515 In: Journal of inherited metabolic disease vol. 37 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	New insights into creatine transporter deficiency: the importance of recycling creatine in the brain. [electronic resource] by van de Kamp, Jiddeke M Jakobs, Cornelis Gibson, K Michael Salomons, Gajja S Producer: 20130924 In: Journal of inherited metabolic disease vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Hydrops fetalis and early neonatal multiple organ failure in familial hemophagocytic lymphohistiocytosis. [electronic resource] by Vermeulen, Marijn J de Haas, Valerie Mulder, Margot F Flohil, Claudie Fetter, Willem P F van de Kamp, Jiddeke M Producer: 20100201 In: European journal of medical genetics vol. 52 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	A triplication of the Williams-Beuren syndrome region in a patient with mental retardation, a severe expressive language delay, behavioural problems and dysmorphisms. [electronic resource] by Beunders, Gea van de Kamp, Jiddeke M Veenhoven, Reinier H van Hagen, Johanna M Nieuwint, Aggie W M Sistermans, Erik A Producer: 20100728 In: Journal of medical genetics vol. 47 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients. [electronic resource] by Sapp, Julie C Turner, Joyce T van de Kamp, Jiddeke M van Dijk, Fleur S Lowry, R Brian Biesecker, Leslie G Producer: 20080102 In: American journal of medical genetics. Part A vol. 143A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Linkage study of 14 candidate genes and loci in four large Dutch families with vesico-ureteral reflux. [electronic resource] by van Eerde, Albertien M Koeleman, Bobby P C van de Kamp, Jiddeke M de Jong, Tom P V M Wijmenga, Cisca Giltay, Jacques C Producer: 20070905 In: Pediatric nephrology (Berlin, Germany) vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	RNA sequencing of creatine transporter (SLC6A8) deficient fibroblasts reveals impairment of the extracellular matrix. [electronic resource] by Nota, Benjamin Ndika, Joseph D T van de Kamp, Jiddeke M Kanhai, Warsha A van Dooren, Silvy J M van de Wiel, Mark A Pals, Gerard Salomons, Gajja S Producer: 20150511 In: Human mutation vol. 35 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Abnormal hepatocystin caused by truncating PRKCSH mutations leads to autosomal dominant polycystic liver disease. [electronic resource] by Drenth, Joost P H Tahvanainen, Esa te Morsche, Rene H M Tahvanainen, Pia Kääriäinen, Helena Höckerstedt, Krister van de Kamp, Jiddeke M Breuning, Martijn H Jansen, Jan B M J Producer: 20040426 In: Hepatology (Baltimore, Md.) vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Early-Onset Severe Encephalopathy with Epilepsy: The BRAT1 Gene Should Be Added to the List of Causes. [electronic resource] by van de Pol, Laura A Wolf, Nicole I van Weissenbruch, Mirjam M Stam, Cornelie J Weiss, Janneke M Waisfisz, Quinten Kevelam, Sietske H Bugiani, Mariana van de Kamp, Jiddeke M van der Knaap, Marjo S Producer: 20160907 In: Neuropediatrics vol. 46 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Broadening the phenotype of DFNB28: Mutations in TRIOBP are associated with moderate, stable hereditary hearing impairment. [electronic resource] by Wesdorp, Mieke van de Kamp, Jiddeke M Hensen, Erik F Schraders, Margit Oostrik, Jaap Yntema, Helger G Feenstra, Ilse Admiraal, Ronald J C Kunst, Henricus P M Tekin, Mustafa Kanaan, Moien Kremer, Hannie Pennings, Ronald J E Producer: 20180305 In: Hearing research vol. 347 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Continuous age- and sex-adjusted reference intervals of urinary markers for cerebral creatine deficiency syndromes: a novel approach to the definition of reference intervals. [electronic resource] by Mørkrid, Lars Rowe, Alexander D Elgstoen, Katja B P Olesen, Jess H Ruijter, George Hall, Patricia L Tortorelli, Silvia Schulze, Andreas Kyriakopoulou, Lianna Wamelink, Mirjam M C van de Kamp, Jiddeke M Salomons, Gajja S Rinaldo, Piero Producer: 20150702 In: Clinical chemistry vol. 61 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency. [electronic resource] by Betsalel, Ofir T van de Kamp, Jiddeke M Martínez-Muñoz, Cristina Rosenberg, Efraim H de Brouwer, Arjan P M Pouwels, Petra J W van der Knaap, Marjo S Mancini, Grazia M S Jakobs, Cornelis Hamel, Ben C J Salomons, Gajja S Producer: 20090615 In: Neurogenetics vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	The role of the clinician in the multi-omics era: are you ready? [electronic resource] by van Karnebeek, Clara D M Wortmann, Saskia B Tarailo-Graovac, Maja Langeveld, Mirjam Ferreira, Carlos R van de Kamp, Jiddeke M Hollak, Carla E Wasserman, Wyeth W Waterham, Hans R Wevers, Ron A Haack, Tobias B Wanders, Ronald J A Boycott, Kym M Producer: 20191129 In: Journal of inherited metabolic disease vol. 41 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect. [electronic resource] by van de Kamp, Jiddeke M Pouwels, Petra J W Aarsen, Femke K ten Hoopen, Leontine W Knol, Dirk L de Klerk, Johannes B de Coo, Ireneus F Huijmans, Jan G M Jakobs, Cornelis van der Knaap, Marjo S Salomons, Gajja S Mancini, Grazia M S Producer: 20120525 In: Journal of inherited metabolic disease vol. 35 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis. [electronic resource] by Van Dijk, Fleur S Nesbitt, Isabel M Nikkels, Peter G J Dalton, Ann Bongers, Ernie M H F van de Kamp, Jiddeke M Hilhorst-Hofstee, Yvonne Den Hollander, Nicolette S Lachmeijer, Augusta M A Marcelis, Carlo L Tan-Sindhunata, Gita M B van Rijn, Rick R Meijers-Heijboer, Hanne Cobben, Jan M Pals, Gerard Producer: 20100120 In: European journal of human genetics : EJHG vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands. [electronic resource] by Zazo Seco, Celia Wesdorp, Mieke Feenstra, Ilse Pfundt, Rolph Hehir-Kwa, Jayne Y Lelieveld, Stefan H Castelein, Steven Gilissen, Christian de Wijs, Ilse J Admiraal, Ronald Jc Pennings, Ronald Je Kunst, Henricus Pm van de Kamp, Jiddeke M Tamminga, Saskia Houweling, Arjan C Plomp, Astrid S Maas, Saskia M de Koning Gans, Pia Am Kant, Sarina G de Geus, Christa M Frints, Suzanna Gm Vanhoutte, Els K van Dooren, Marieke F van den Boogaard, Marie-José H Scheffer, Hans Nelen, Marcel Kremer, Hannie Hoefsloot, Lies Schraders, Margit Yntema, Helger G Producer: 20170807 In: European journal of human genetics : EJHG vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update. [electronic resource] by Huang, Lijia Vanstone, Megan R Hartley, Taila Osmond, Matthew Barrowman, Nick Allanson, Judith Baker, Laura Dabir, Tabib A Dipple, Katrina M Dobyns, William B Estrella, Jane Faghfoury, Hanna Favaro, Francine P Goel, Himanshu Gregersen, Pernille A Gripp, Karen W Grix, Art Guion-Almeida, Maria-Leine Harr, Margaret H Hudson, Cindy Hunter, Alasdair G W Johnson, John Joss, Shelagh K Kimball, Amy Kini, Usha Kline, Antonie D Lauzon, Julie Lildballe, Dorte L López-González, Vanesa Martinezmoles, Johanna Meldrum, Cliff Mirzaa, Ghayda M Morel, Chantal F Morton, Jenny E V Pyle, Louise C Quintero-Rivera, Fabiola Richer, Julie Scheuerle, Angela E Schönewolf-Greulich, Bitten Shears, Deborah J Silver, Josh Smith, Amanda C Temple, I Karen van de Kamp, Jiddeke M van Dijk, Fleur S Vandersteen, Anthony M White, Sue M Zackai, Elaine H Zou, Ruobing Bulman, Dennis E Boycott, Kym M Lines, Matthew A Producer: 20161018 In: Human mutation vol. 37 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)