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	1.	Novel human pathological mutations. Gene symbol: ABCD1. Disease: X-linked adrenoleukodystrophy. [electronic resource] by Amorosi, Cyntia Anabel Treslova, Helena Dodelson de Kremer, Raquel Coll, María José Dvoráková, Lenka Oller Ramírez, Ana María Producer: 20110506 In: Human genetics vol. 127 Availability: No items available. Save to lists Add to cart (remove)
	2.	Novel human pathological mutations. Gene symbol: ABCD1. Disease: X-linked adrenoleukodystrophy. [electronic resource] by Amorosi, Cyntia Anabel Treslova, Helena Dodelson de Kremer, Raquel Coll, María José Dvoráková, Lenka Oller Ramírez, Ana María Producer: 20110506 In: Human genetics vol. 127 Availability: No items available. Save to lists Add to cart (remove)
	3.	Novel human pathological mutations. Gene symbol: ABCD1. Disease: X-linked adrenoleukodystrophy. [electronic resource] by Amorosi, Cyntia Anabel Treslova, Helena Dodelson de Kremer, Raquel Coll, María José Dvoráková, Lenka Oller Ramírez, Ana María Producer: 20110506 In: Human genetics vol. 127 Availability: No items available. Save to lists Add to cart (remove)
	4.	Disruption of OTC promoter-enhancer interaction in a patient with symptoms of ornithine carbamoyltransferase deficiency. [electronic resource] by Luksan, Ondrej Jirsa, Milan Eberova, Jitka Minks, Jakub Treslova, Helena Bouckova, Michaela Storkanova, Gabriela Vlaskova, Hana Hrebicek, Martin Dvorakova, Lenka Producer: 20100730 In: Human mutation vol. 31 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Spinal muscular atrophy caused by a novel Alu-mediated deletion of exons 2a-5 in SMN1 undetectable with routine genetic testing. [electronic resource] by Jedličková, Ivana Přistoupilová, Anna Nosková, Lenka Majer, Filip Stránecký, Viktor Hartmannová, Hana Hodaňová, Kateřina Trešlová, Helena Hýblová, Michaela Solár, Peter Minárik, Gabriel Giertlová, Mária Kmoch, Stanislav Producer: 20210430 In: Molecular genetics & genomic medicine vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Rare copy number variation in extremely impulsively violent males. [electronic resource] by Vevera, Jan Zarrei, Mehdi Hartmannová, Hana Jedličková, Ivana Mušálková, Dita Přistoupilová, Anna Oliveriusová, Petra Trešlová, Helena Nosková, Lenka Hodaňová, Kateřina Stránecký, Viktor Jiřička, Václav Preiss, Marek Příhodová, Kateřina Šaligová, Jana Wei, John Woodbury-Smith, Marc Bleyer, Anthony J Scherer, Stephen W Kmoch, Stanislav Producer: 20200109 In: Genes, brain, and behavior vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)