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Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.

Meriem Garfa-Traoré , Aurore POULIET, Nathalie Boddaert, Stanislas Lyonnet, Jean-Michel Rozet, Sandrine Marlin

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Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.

Meriem Garfa-Traoré , Aurore POULIET, Nathalie Boddaert, Stanislas Lyonnet, Jean-Michel Rozet, Sandrine Marlin

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Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.

Meriem Garfa-Traoré , Aurore POULIET, Nathalie Boddaert, Stanislas Lyonnet, Jean-Michel Rozet, Sandrine Marlin, Isabelle PERRAULT

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A predictive model of asymmetric morphogenesis from 3D reconstructions of mouse heart looping dynamics.

Audrey Desgrange, Sigolène Meilhac

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Targeted Inactivation of Bax Reveals a Subtype-Specific Mechanism of Cajal-Retzius Neuron Death in the Postnatal Cerebral Cortex.

Alessandra Pierani

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Single-cell analysis identifies cellular markers of the HIV permissive cell.

Antonio Rausell

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DCDC2 Mutations Cause Neonatal Sclerosing Cholangitis.

Sophie Saunier

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Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population.

Vincent Cantagrel

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Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice.

Pierre David, Christelle Arrondel, Audrey Desgrange, Patrick Nitschké, Laurence Heidet, Sophie Saunier, Cécile Jeanpierre, Sigolène Meilhac

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Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

Corinne Antignac, Géraldine Mollet, Christelle Arrondel, Olivia Boyer

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Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract.

Cécile Jeanpierre

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FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases.

Sandrine Marlin

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FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases.

Floriane PETIT, Stanislas Lyonnet, Agnès Rötig, Sandrine Marlin

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Recurrent rhinovirus infections in a child with inherited MDA5 deficiency.

Jean-Laurent CASANOVA

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WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells.

Nadia Bahi-Buisson, Sophie Thomas, Matias Simons, Vincent Cantagrel, Meriem Garfa-Traoré , Patrick Nitschké, Tania Attié-Bitach

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