Concepedia

Julia Lauer

JL

4

Publications

471

Citations

4

H-Index

2010

Active since

Affiliations

Inserm(Current)

Institut de génétique et de biologie moléculaire et cellulaire

Hôpitaux Universitaires de Strasbourg

Université de Strasbourg

Centre National de la Recherche Scientifique

Julia Lauer is an author at Inserm specializing in genetics, medicine, and biological psychiatry.

Top concepts

Publications per year

2010–2014

4

Publications

4

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

Claire Redin, Bénédicte Gérard, Julia Lauer et al. · Journal of Medical Genetics · 2014 · 270 citations · Full text

20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition

Amélie Piton, Hélène Poquet, Claire Redin et al. · European Journal of Human Genetics · 2013 · 83 citations · Full text

, , +8

Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly

Élise Schaefer, Ariane Zaloszyc, Julia Lauer et al. · Molecular Syndromology · 2010 · 78 citations · Full text

, , +20

Mesoaxial polydactyly is a major feature in Bardet–Biedl syndrome patients with <i><scp>LZTFL1</scp></i> (<i><scp>BBS17</scp></i>) mutations

Élise Schaefer, Julia Lauer, M. Durand et al. · Clinical Genetics · 2013 · 40 citations

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