1. A novel familial mutation in the PCSK1 gene that alters the oxyanion hole residue of proprotein convertase 1/3 and impairs its enzymatic activity.
پدیدآورنده : Wilschanski, Michael; Abbasi, Montaser; Blanco, Elias; Lindberg, Iris; Yourshaw, Michael; Zangen, David; Berger, Itai; Shteyer, Eyal; Pappo, Orit; Bar-Oz, Benjamin; Martín, Martin G; Elpeleg, Orly
کتابخانه: Center and Library of Islamic Studies in European Languages (Qom)
موضوع :
2. Applications of Next-Generation DNA Sequencing to the Identification of Rare Variants in Congenital Disorders of the Intestine and Brain
پدیدآورنده : Yourshaw, Michael
کتابخانه: Center and Library of Islamic Studies in European Languages (Qom)
موضوع :
3. EPCAM mutation update:
پدیدآورنده : Pathak, Sagar J; Mueller, James L; Okamoto, Kevin; Das, Barun; Hertecant, Jozef; Greenhalgh, Lynn; Cole, Trevor; Pinsk, Vered; Yerushalmi, Baruch; Gurkan, Odul E; Yourshaw, Michael; et al.
کتابخانه: Center and Library of Islamic Studies in European Languages (Qom)
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