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Item Results : 1-2 of 2.

NO Title , Author(s) , Publication , Issue Date
1 De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy / Jae-Ran Lee; S Srour; D Kim; F F Hamdan; So Hee Lim; C Brunel-Guitton; J C Decarie; E Rossignol; G A Mitchell; A Schreiber; R Moran; K V Haren; R Richardson; J Nicolai; K M E J Oberndorff; J D Wagner; K M Boycott; E Rahikkala; N Junna; H Tyynismaa; I Cuppen; N E Verbeek; C T R M Stumpel; M A Willemsen; S A Munnik; G A Rouleau; E Kim; E J Kamsteeg; T Kleefstra; J L Michaud , 2015
2 Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability / F F Hamdan; J Gauthier; Y Araki; D T Lin; Y Yoshizawa; K Higashi; A-reum Park; D Spiegelman; S Dobrzeniecka; A Piton; H Tomitori; H Daoud; C Massicotte; E Henrion; O Diallo; M Shekarabi; C Marineau; M Shevell; B Maranda; G Mitchell; A Nadeau; G D'Anjou; M Vanasse; M Srour; R G Lafreniere; P Drapeau; J C Lacaille; E Kim; Jae-Ran Lee; K Igarashi; R L Huganir; G A Rouleau; J L Michaud , 2011

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