G. Tanguy

发表

Leber congenital amaurosis: survey of the genetic heterogeneity, refinement of the clinical definition and phenotype-genotype correlations as a strategy for molecular diagnosis. Clinical and molecular survey in LCA.

S. Hanein, I. Perrault, S. Gerber, 2006, Advances in experimental medicine and biology.

A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q21-q22.

A. Munnich, S. Hanein, J. Dufier, 2006, Advances in experimental medicine and biology.

Leber congenital amaurosis: Comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype–phenotype correlations as a strategy for molecular diagnosis

A. Munnich, D. Zafeiriou, S. Hanein, 2004, Human mutation.

CSN5 binds to misfolded CFTR and promotes its degradation.

M. Goossens, N. Arous, A. Hinzpeter, 2008, Biochimica et biophysica acta.

pEg6, a Spire family member, is a maternal gene encoding a vegetally localized mRNA in Xenopus embryos

X. Goff, C. Goff, A. Couturier, 2006, Biology of the cell.

COMMD1-Mediated Ubiquitination Regulates CFTR Trafficking

M. Goossens, N. Arous, A. Hinzpeter, 2011, PloS one.

A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q

A. Munnich, S. Hanein, J. Dufier, 2003, European Journal of Human Genetics.

[Unexplicated neuropsychiatric disorders: Do not ignore dysimmune encephalitis. A case report of a dysimmune encephalitis with anti-leucine rich glioma inactivated 1 (LGI-1) antibodies].

E. Guedj, S. Lagarde, C. Brosset, 2016, La Revue de medecine interne.

Bone Quality Changes In 3 Cases Of Hypophosphatasia: A Ftiri Study

D. Chappard, M. Audran, G. Tanguy, 2012 .