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Briefings in Functional Genomics, Vol. 11, Iss. 5, 2012-09 ,pp. : 336-346

Oxford University Press

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Tmprss3 loss of function impairs cochlear inner hair cell Kcnma1 channel membrane expression

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SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function

By Fassio Anna   Patry Lysanne   Congia Sonia   Onofri Franco   Piton Amelie   Gauthier Julie   Pozzi Davide   Messa Mirko   Defranchi Enrico   Fadda Manuela   Corradi Anna   Baldelli Pietro   Lapointe Line   St-Onge Judith   Meloche Caroline   Mottron Laurent   Valtorta Flavia   Khoa Nguyen Dang   Rouleau Guy A.   Benfenati Fabio   Cossette Patrick  

Human Molecular Genetics, Vol. 20, Iss. 12, 2011-06 ,pp. : 2297-2307

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Loss and gain of Drosophila TDP-43 impair synaptic efficacy and motor control leading to age-related neurodegeneration by loss-of-function phenotypes

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In vitro analysis of partial loss-of-function ZIC2 mutations in holoprosencephaly: alanine tract expansion modulates DNA binding and transactivation

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