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	1.	Two families with familial amyotrophic lateral sclerosis are linked to a novel locus on chromosome 16q. [electronic resource] by Ruddy, Deborah M Parton, Matthew J Al-Chalabi, Ammar Lewis, Cathryn M Vance, Caroline Smith, Bradley N Leigh, P Nigel Powell, John F Siddique, Teepu Meyjes, Eelco Postumus Baas, Frank de Jong, Vianney Shaw, Christopher E Producer: 20030924 In: American journal of human genetics vol. 73 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies. [electronic resource] by Sukalo, Maja Tilsen, Felix Kayserili, Hülya Müller, Dietmar Tüysüz, Beyhan Ruddy, Deborah M Wakeling, Emma Ørstavik, Karen Helene Snape, Katie M Trembath, Richard De Smedt, Maryse van der Aa, Nathalie Skalej, Martin Mundlos, Stefan Wuyts, Wim Southgate, Laura Zenker, Martin Producer: 20160301 In: Human mutation vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies. [electronic resource] by Sukalo, Maja Tilsen, Felix Kayserili, Hülya Müller, Dietmar Tüysüz, Beyhan Ruddy, Deborah M Wakeling, Emma Ørstavik, Karen Helene Bramswig, Nuria C Snape, Katie M Trembath, Richard De Smedt, Maryse van der Aa, Nathalie Skalej, Martin Mundlos, Stefan Wuyts, Wim Southgate, Laura Zenker, Martin Producer: 20160107 In: Human mutation vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies. [electronic resource] by Southgate, Laura Machado, Rajiv D Snape, Katie M Primeau, Martin Dafou, Dimitra Ruddy, Deborah M Branney, Peter A Fisher, Malcolm Lee, Grace J Simpson, Michael A He, Yi Bradshaw, Teisha Y Blaumeiser, Bettina Winship, William S Reardon, Willie Maher, Eamonn R FitzPatrick, David R Wuyts, Wim Zenker, Martin Lamarche-Vane, Nathalie Trembath, Richard C Producer: 20110815 In: American journal of human genetics vol. 88 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)