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By Mowat D.  

Human Molecular Genetics, Vol. 10, Iss. 14, 2001-07 ,pp. : 1503-1510

Oxford University Press

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Disease-associated mutations in TUBA1A result in a spectrum of defects in the tubulin folding and heterodimer assembly pathway

By Tian Guoling   Jaglin Xavier H.   Keays David A.   Francis Fiona   Chelly Jamel   Cowan Nicholas J.  

Human Molecular Genetics, Vol. 19, Iss. 18, 2010-09 ,pp. : 3599-3613

Oxford University Press

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Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease

By Strauss Karsten M.  

Human Molecular Genetics, Vol. 14, Iss. 15, 2005-08 ,pp. : 2099-2111

Oxford University Press

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Loss-of-function point mutations associated with renal tubular dysgenesis provide insights about renin function and cellular trafficking

By Michaud Annie   Bur Daniel   Gribouval Olivier   Muller Laurent   Iturrioz Xavier   Clemessy Maud   Gasc Jean-Marie   Gubler Marie-Claire   Corvol Pierre  

Human Molecular Genetics, Vol. 20, Iss. 2, 2011-01 ,pp. : 301-311

Oxford University Press

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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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