Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency

By Tsokos M.  

Human Molecular Genetics, Vol. 12, Iss. 13, 2003-07 ,pp. : 1631-1641

Oxford University Press

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A new inborn error of glycosylation due to a Cog8 deficiency reveals a critical role for the Cog1–Cog8 interaction in COG complex formation

By Foulquier François   Ungar Daniel   Reynders Ellen   Zeevaert Renate   Mills Philippa   García-Silva Maria Teresa   Briones Paz   Winchester Bryan   Morelle Willy   Krieger Monty   Annaert Willem  

Human Molecular Genetics, Vol. 16, Iss. 7, 2007-04 ,pp. : 717-730

Oxford University Press

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Neurological abnormalities in a knock-in mouse model of Huntington’s disease

By Detloff P.J.  

Human Molecular Genetics, Vol. 10, Iss. 2, 2001-01 ,pp. : 137-144

Oxford University Press

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Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding Δ 1 -pyrroline-5-carboxylate synthase

By Baumgartner Matthias R.  

Human Molecular Genetics, Vol. 9, Iss. 19, 2000-11 ,pp. : 2853-2858

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Behavioral Abnormalities of Zic1 and Zic2 Mutant Mice: Implications as Models for Human Neurological Disorders

By Ogura H.  

Behavior Genetics, Vol. 31, Iss. 3, 2001-05 ,pp. : 317-324

Springer Publishing Company

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