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Serpin B1 defect and increased apoptosis of neutrophils in Cohen syndrome neutropenia. [electronic resource] by
- Duplomb, Laurence
- Rivière, Julie
- Jego, Gaëtan
- Da Costa, Romain
- Hammann, Arlette
- Racine, Jessica
- Schmitt, Alain
- Droin, Nathalie
- Capron, Claude
- Gougerot-Pocidalo, Marie-Anne
- Dubrez, Laurence
- Aral, Bernard
- Lafon, Arnaud
- Edery, Patrick
- Ghoumid, Jamal
- Blair, Edward
- El Chehadeh-Djebbar, Salima
- Carmignac, Virginie
- Thevenon, Julien
- Guy, Julien
- Girodon, François
- Bastie, Jean-Noël
- Delva, Laurent
- Faivre, Laurence
- Thauvin-Robinet, Christel
- Solary, Eric
Producer: 20200622
In:
Journal of molecular medicine (Berlin, Germany) vol. 97
Availability: No items available.
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Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome. [electronic resource] by
- Vabres, Pierre
- Sorlin, Arthur
- Kholmanskikh, Stanislav S
- Demeer, Bénédicte
- St-Onge, Judith
- Duffourd, Yannis
- Kuentz, Paul
- Courcet, Jean-Benoît
- Carmignac, Virginie
- Garret, Philippine
- Bessis, Didier
- Boute, Odile
- Bron, Alain
- Captier, Guillaume
- Carmi, Esther
- Devauchelle, Bernard
- Geneviève, David
- Gondry-Jouet, Catherine
- Guibaud, Laurent
- Lafon, Arnaud
- Mathieu-Dramard, Michèle
- Thevenon, Julien
- Dobyns, William B
- Bernard, Geneviève
- Polubothu, Satyamaanasa
- Faravelli, Francesca
- Kinsler, Veronica A
- Thauvin, Christel
- Faivre, Laurence
- Ross, M Elizabeth
- Rivière, Jean-Baptiste
Publication details: Nature genetics Nov 2019
In:
Nature genetics vol. 51
Availability: No items available.
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4.
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Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome. [electronic resource] by
- Vabres, Pierre
- Sorlin, Arthur
- Kholmanskikh, Stanislav S
- Demeer, Bénédicte
- St-Onge, Judith
- Duffourd, Yannis
- Kuentz, Paul
- Courcet, Jean-Benoît
- Carmignac, Virginie
- Garret, Philippine
- Bessis, Didier
- Boute, Odile
- Bron, Alain
- Captier, Guillaume
- Carmi, Esther
- Devauchelle, Bernard
- Geneviève, David
- Gondry-Jouet, Catherine
- Guibaud, Laurent
- Lafon, Arnaud
- Mathieu-Dramard, Michèle
- Thevenon, Julien
- Dobyns, William B
- Bernard, Geneviève
- Polubothu, Satyamaanasa
- Faravelli, Francesca
- Kinsler, Veronica A
- Thauvin, Christel
- Faivre, Laurence
- Ross, M Elizabeth
- Rivière, Jean-Baptiste
Producer: 20200122
In:
Nature genetics vol. 51
Availability: No items available.
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5.
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Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life. [electronic resource] by
- Thevenon, Julien
- Milh, Mathieu
- Feillet, François
- St-Onge, Judith
- Duffourd, Yannis
- Jugé, Clara
- Roubertie, Agathe
- Héron, Delphine
- Mignot, Cyril
- Raffo, Emmanuel
- Isidor, Bertrand
- Wahlen, Sandra
- Sanlaville, Damien
- Villeneuve, Nathalie
- Darmency-Stamboul, Véronique
- Toutain, Annick
- Lefebvre, Mathilde
- Chouchane, Mondher
- Huet, Frédéric
- Lafon, Arnaud
- de Saint Martin, Anne
- Lesca, Gaetan
- El Chehadeh, Salima
- Thauvin-Robinet, Christel
- Masurel-Paulet, Alice
- Odent, Sylvie
- Villard, Laurent
- Philippe, Christophe
- Faivre, Laurence
- Rivière, Jean-Baptiste
Producer: 20140827
In:
American journal of human genetics vol. 95
Availability: No items available.
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6.
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Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome. [electronic resource] by
- Vabres, Pierre
- Sorlin, Arthur
- Kholmanskikh, Stanislav S
- Demeer, Bénédicte
- St-Onge, Judith
- Duffourd, Yannis
- Kuentz, Paul
- Courcet, Jean-Benoît
- Carmignac, Virginie
- Garret, Philippine
- Bessis, Didier
- Boute, Odile
- Bron, Alain
- Captier, Guillaume
- Carmi, Esther
- Devauchelle, Bernard
- Geneviève, David
- Gondry-Jouet, Catherine
- Guibaud, Laurent
- Lafon, Arnaud
- Mathieu-Dramard, Michèle
- Thevenon, Julien
- Dobyns, William B
- Bernard, Geneviève
- Polubothu, Satyamaanasa
- Faravelli, Francesca
- Kinsler, Veronica A
- Thauvin, Christel
- Faivre, Laurence
- Ross, M Elizabeth
- Rivière, Jean-Baptiste
Publication details: Nature genetics 03 2020
In:
Nature genetics vol. 52
Availability: No items available.
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