Concepedia

Julia Tantau

JT

13

Publications

805

Citations

13

H-Index

2000

Active since

Affiliations

Hôpital Necker-Enfants Malades(Current)

Université Paris Cité

Assistance Publique – Hôpitaux de Paris

Inserm

Centre Hospitalier Intercommunal de Poissy

Julia Tantau is an author at Hôpital Necker-Enfants Malades specializing in medicine, genetics, and molecular genetics.

Top concepts

Publications per year

2000–2020

13

Publications

13

Pleiotropic Effects of CEP290 (NPHP6) Mutations Extend to Meckel Syndrome

Lekbir Baala, Sophie Audollent, Jelena Martinović et al. · The American Journal of Human Genetics · 2007 · 280 citations · Full text

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Antenatal Presentation of Bardet-Biedl Syndrome May Mimic Meckel Syndrome

Houda Karmous‐Benailly, Jelena Martinović, Marie-Claire Gübler et al. · The American Journal of Human Genetics · 2005 · 136 citations · Full text

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Novel<i>TMEM67</i>mutations and genotype-phenotype correlates in meckelin-related ciliopathies

Miriam Iannicelli, Francesco Brancati, Soumaya Mougou-Zerelli et al. · Human Mutation · 2010 · 89 citations · Full text

Antenatal spectrum of CHARGE syndrome in 40 fetuses with <i>CHD7</i> mutations

Marine Legendre, Marie Gonzalès, Géraldine Goudefroye et al. · Journal of Medical Genetics · 2012 · 56 citations

Loss-of-function mutations in<i>KIF14</i>cause severe microcephaly and kidney development defects in humans and zebrafish

Madeline Louise Reilly, Marijn F. Stokman, Virginie Magry et al. · Human Molecular Genetics · 2018 · 48 citations · Full text

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