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	1.	[Inborn errors of metabolism are not hopeless; early identification of treatable conditions in children with intellectual disability]. [electronic resource] by van Karnebeek, Clara D M Producer: 20150601 In: Nederlands tijdschrift voor geneeskunde vol. 158 Availability: No items available. Save to lists Add to cart (remove)
	2.	Evaluation of the Child With Developmental Impairments. [electronic resource] by van Karnebeek, Clara D M Producer: 20180831 In: Continuum (Minneapolis, Minn.) vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	GLUT1 deficiency: progress in unraveling its genetic basis. [electronic resource] by Van Karnebeek, Clara D M Producer: 20180620 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)
	4.	Treatable inborn errors of metabolism causing intellectual disability: a systematic literature review. [electronic resource] by van Karnebeek, Clara D M Stockler, Sylvia Producer: 20120716 In: Molecular genetics and metabolism vol. 105 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Current treatment and management of pyridoxine-dependent epilepsy. [electronic resource] by van Karnebeek, Clara D M Jaggumantri, Sravan Producer: 20150202 In: Current treatment options in neurology vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Cerebral creatine deficiencies: a group of treatable intellectual developmental disorders. [electronic resource] by Stockler-Ipsiroglu, Sylvia van Karnebeek, Clara D M Producer: 20150602 In: Seminars in neurology vol. 34 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Treatment of Neurogenetic Developmental Conditions: From 2016 into the Future. [electronic resource] by van Karnebeek, Clara D M Bowden, Kristin Berry-Kravis, Elizabeth Producer: 20171212 In: Pediatric neurology vol. 65 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Current knowledge for pyridoxine-dependent epilepsy: a 2016 update. [electronic resource] by Pena, Izabella Agostinho MacKenzie, Alex Van Karnebeek, Clara D M Publication details: Expert review of endocrinology & metabolism Jan 2017 In: Expert review of endocrinology & metabolism vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Costs of caring for children with an intellectual developmental disorder. [electronic resource] by Genereaux, Dallas van Karnebeek, Clara D M Birch, Patricia H Producer: 20160613 In: Disability and health journal vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Impact of next-generation sequencing on diagnosis and management of neurometabolic disorders: current advances and future perspectives. [electronic resource] by Tarailo-Graovac, Maja Wasserman, Wyeth W Van Karnebeek, Clara D M Producer: 20180814 In: Expert review of molecular diagnostics vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	From rodent heart to inborn errors of human metabolism. [electronic resource] by Sass, Jörn Oliver Kalkan Uçar, Sema van Karnebeek, Clara D M Producer: 20181116 In: Molecular genetics and metabolism vol. 123 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Dynamic software design for clinical exome and genome analyses: insights from bioinformaticians, clinical geneticists, and genetic counselors. [electronic resource] by Shyr, Casper Kushniruk, Andre van Karnebeek, Clara D M Wasserman, Wyeth W Producer: 20161006 In: Journal of the American Medical Informatics Association : JAMIA vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Please Test My Child for a Cancer Gene, but Don't Tell Her. [electronic resource] by Bester, Johan Sabatello, Maya van Karnebeek, Clara D M Lantos, John D Producer: 20190411 In: Pediatrics vol. 141 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Development and user evaluation of a rare disease gene prioritization workflow based on cognitive ergonomics. [electronic resource] by Lee, Jessica J Y van Karnebeek, Clara D M Wasserman, Wyeth W Producer: 20200108 In: Journal of the American Medical Informatics Association : JAMIA vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	A proposed nosology of inborn errors of metabolism. [electronic resource] by Ferreira, Carlos R van Karnebeek, Clara D M Vockley, Jerry Blau, Nenad Producer: 20190312 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)
	16.	The metabolic evaluation of the child with an intellectual developmental disorder: diagnostic algorithm for identification of treatable causes and new digital resource. [electronic resource] by van Karnebeek, Clara D M Shevell, Michael Zschocke, Johannes Moeschler, John B Stockler, Sylvia Producer: 20141128 In: Molecular genetics and metabolism vol. 111 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	Treatment of X-linked creatine transporter (SLC6A8) deficiency: systematic review of the literature and three new cases. [electronic resource] by Dunbar, Mary Jaggumantri, Sravan Sargent, Michael Stockler-Ipsiroglu, Sylvia van Karnebeek, Clara D M Producer: 20150403 In: Molecular genetics and metabolism vol. 112 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	The treatable intellectual disability APP www.treatable-id.org: a digital tool to enhance diagnosis & care for rare diseases. [electronic resource] by van Karnebeek, Clara D M Houben, Roderick F A Lafek, Mirafe Giannasi, Wynona Stockler, Sylvia Producer: 20130214 In: Orphanet journal of rare diseases vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	Treatable inborn errors of metabolism presenting as cerebral palsy mimics: systematic literature review. [electronic resource] by Leach, Emma L Shevell, Michael Bowden, Kristin Stockler-Ipsiroglu, Sylvia van Karnebeek, Clara D M Producer: 20150720 In: Orphanet journal of rare diseases vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	20.	Phenotypic abnormalities: terminology and classification. [electronic resource] by Merks, Johannes H M van Karnebeek, Clara D M Caron, Hubert N Hennekam, Raoul C M Producer: 20040728 In: American journal of medical genetics. Part A vol. 123A 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 75 results.