Hélène Dollfus

发表

Alström Syndrome: Mutation Spectrum of ALMS1

Neil A. Miller, S. Kingsmore, J. Naggert, 2015, Human mutation.

Mesoaxial polydactyly is a major feature in Bardet–Biedl syndrome patients with LZTFL1 (BBS17) mutations

C. Redin, C. Mathis, C. Obringer, 2014, Clinical Genetics.

Hippocampal dysgenesis and variable neuropsychiatric phenotypes in patients with Bardet–Biedl syndrome underline complex CNS impact of primary cilia

J. Dietemann, A. Verloes, S. Kremer, 2011, Clinical genetics.

Olfaction evaluation and correlation with brain atrophy in Bardet‐Biedl syndrome

J. Foucher, V. Noblet, S. Kremer, 2014, Clinical genetics.

Value of MRI olfactory bulb evaluation in the assessment of olfactory dysfunction in Bardet–Biedl syndrome

V. Noblet, S. Kremer, H. Dollfus, 2016, Clinical genetics.

The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1‐mutated males

L. Hertz-Pannier, R. Touraine, F. Giuliano, 2011, Clinical genetics.

The androgen receptor and DXS15-134 markers show a high rate of discordance for germline X chromosome inactivation

R. Fahsold, C. Mischung, A. Westerveld, 2001, Journal of medical genetics.

Gillespie syndrome phenotype with a t(X;11)(p22.32;p12) de novo translocation.

H. Dollfus, P. Jonveaux, J. Dufier, 1998, American journal of ophthalmology.

Clinical and genetic characterization of Bardet–Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis

C. Redin, H. Dollfus, C. Stoetzel, 2014, Clinical genetics.