J. Rozet

发表

Partial duplication [dup. TCAC (178)] and novel point mutations (T125M, G188R, A209V, and H302L) of the ornithine transcarbamylase gene in congenital hyperammonemia

A. Munnich, P. Calvas, B. Gilbert-Dussardier, 1996, Human mutation.

Site specific screening for point mutations in ornithine transcarbamylase deficiency.

A. Munnich, P. Briand, D. Rabier, 1992, Journal of medical genetics.

X linked spastic paraplegia (SPG2): clinical heterogeneity at a single gene locus.

A. Munnich, D. Bonneau, C. Bulteau, 1993, Journal of medical genetics.

A third locus for dominant optic atrophy on chromosome 22q

A. Munnich, C. Orssaud, S. Hanein, 2005, Journal of Medical Genetics.

Mainzer-Saldino syndrome is a ciliopathy caused by mutations in the IFT140 gene

A. Munnich, S. Hanein, C. Antignac, 2012, Cilia.