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Wyszukujesz frazę ""Thevenon, Julien"" wg kryterium: Autor


Tytuł :
Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders
Autorzy :
Tran Mau-Them, FredericAff1, Aff2
Moutton, SebastienAff1, Aff3
Racine, Caroline
Vitobello, AntonioAff1, Aff2
Bruel, Ange-LineAff1, Aff2
Nambot, SophieAff1, Aff3
Kushner, Steven A.
de Vrij, Femke M. S.
Lehalle, DaphnéAff1, Aff3
Jean-Marçais, Nolwenn
Lecoquierre, François
Delanne, Julian
Thevenon, Julien
Poe, Charlotte
Jouan, Thibaut
Chevarin, Martin
Geneviève, DavidAff5, Aff6
Willems, Marjolaine
Coubes, Christine
Houcinat, NadaAff1, Aff3
Masurel-Paulet, Alice
Mosca-Boidron, Anne-LaureAff1, Aff2
Tisserant, Emilie
Callier, PatrickAff1, Aff2
Sorlin, ArthurAff1, Aff2, Aff3
Duffourd, Yannis
Faivre, LaurenceAff1, Aff3
Philippe, ChristopheAff1, Aff2
Thauvin-Robinet, ChristelAff1, Aff2, Aff3, Aff7
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Źródło :
Human Genetics. 139(11):1381-1390
Czasopismo naukowe
Tytuł :
Extracellular vesicles from myelodysplastic mesenchymal stromal cells induce DNA damage and mutagenesis of hematopoietic stem cells through miRNA transfer
Autorzy :
Meunier, MathieuAff1, Aff2
Guttin, Audrey
Ancelet, Sarah
Laurin, David
Zannoni, JohannaAff1, Aff2
Lefebvre, Christine
Tondeur, Sylvie
Persoons, Virginie
Pezet, Mylène
Pernet-Gallay, Karin
Chuffart, Florent
Rousseaux, Sophie
Testard, QuentinAff2, Aff7, Aff8
Thevenon, JulienAff2, Aff7
Jouzier, ClaireAff1, Aff2
Deleuze, Jean-François
Laulagnier, Karine
Sadoul, Rémy
Chatellard, Christine
Hainaut, Pierre
Polack, Benoît
Cahn, Jean-Yves
Issartel, Jean-Paul
Park, SophieAff1, Aff2
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Źródło :
Leukemia. 34(8):2249-2253
Czasopismo naukowe
Tytuł :
Neural metabolic imbalance induced by MOF dysfunction triggers pericyte activation and breakdown of vasculature
Autorzy :
Sheikh, Bilal N.
Guhathakurta, SukanyaAff1, Aff2
Tsang, Tsz HongAff1, Aff2
Schwabenland, Marius
Renschler, GinaAff1, Aff2
Herquel, Benjamin
Bhardwaj, Vivek
Holz, Herbert
Stehle, Thomas
Bondareva, Olga
Aizarani, NadimAff1, Aff2
Mossad, OmarAff2, Aff3
Kretz, OliverAff5, Aff6
Reichardt, WilfriedAff7, Aff8, Aff9
Chatterjee, Aindrila
Braun, Laura J.
Thevenon, JulienAff11, Aff12
Sartelet, Herve
Blank, Thomas
Grün, Dominic
von Elverfeldt, Dominik
Huber, Tobias B.
Vestweber, Dietmar
Avilov, Sergiy
Prinz, MarcoAff3, Aff14, Aff15
Buescher, Joerg M.
Akhtar, Asifa
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Źródło :
Nature Cell Biology. 22(7):828-841
Czasopismo naukowe
Tytuł :
A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis
Autorzy :
Arnaud, PaulineAff1, Aff2, Aff3
Racine, Caroline
Hanna, NadineAff1, Aff2
Thevenon, Julien
Alessandri, Jean-Luc
Bonneau, Dominique
Clayton-Smith, JillAff8, Aff9
Coubes, Christine
Delobel, Bruno
Dupuis-Girod, Sophie
Gouya, Laurent
Odent, Sylvie
Carmignac, VirginieAff15, Aff16
Thauvin-Robinet, ChristelAff15, Aff16, Aff17
Le Goff, Carine
Jondeau, GuillaumeAff1, Aff13
Boileau, CatherineAff1, Aff2, Aff3
Faivre, LaurenceAff4, Aff15, Aff16
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Źródło :
Human Genetics. 139(4):461-472
Czasopismo naukowe
Tytuł :
Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing
Autorzy :
Bruel, Ange-Line
Nambot, Sophie
Quéré, Virginie
Vitobello, AntonioAff1, Aff2
Thevenon, JulienAff1, Aff3
Assoum, Mirna
Moutton, SébastienAff1, Aff3
Houcinat, NadaAff1, Aff3
Lehalle, DaphnéAff1, Aff3
Jean-Marçais, NolwennAff1, Aff3
Orphanomix Physician’s Group
Chevarin, MartinAff1, Aff2
Jouan, Thibaud
Poë, CharlotteAff1, Aff2
Callier, PatrickAff1, Aff2
Tisserand, Emilie
Philippe, ChristopheAff1, Aff2
Them, Frédéric Tran MauAff1, Aff2
Duffourd, YannisAff1, Aff2
Faivre, LaurenceAff1, Aff3
Thauvin-Robinet, ChristelAff1, Aff2, Aff3, Aff4
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Źródło :
European Journal of Human Genetics. 27(10):1519-1531
Czasopismo naukowe
Tytuł :
Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome
Autorzy :
Vabres, PierreAff1, Aff2, Aff3
Sorlin, ArthurAff1, Aff2, Aff3, Aff4
Kholmanskikh, Stanislav S.
Demeer, BénédicteAff6, Aff7
St-Onge, JudithAff1, Aff2, Aff8
Duffourd, YannisAff1, Aff2
Kuentz, PaulAff1, Aff2, Aff9
Courcet, Jean-BenoîtAff1, Aff2, Aff4
Carmignac, VirginieAff2, Aff3
Garret, PhilippineAff1, Aff2
Bessis, Didier
Boute, Odile
Bron, Alain
Captier, Guillaume
Carmi, Esther
Devauchelle, BernardAff7, Aff15
Geneviève, David
Gondry-Jouet, Catherine
Guibaud, Laurent
Lafon, Arnaud
Mathieu-Dramard, Michèle
Thevenon, JulienAff1, Aff2, Aff4
Dobyns, William B.
Bernard, GenevièveAff8, Aff21, Aff22
Polubothu, Satyamaanasa
Faravelli, Francesca
Kinsler, Veronica A.
Thauvin, ChristelAff1, Aff2, Aff4
Faivre, LaurenceAff1, Aff2, Aff4
Ross, M. Elizabeth
Rivière, Jean-BaptisteAff1, Aff2, Aff8, Aff24
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Źródło :
Nature Genetics. 51(10):1438-1441
Czasopismo naukowe
Tytuł :
Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome
Autorzy :
Besnard, ThomasAff1, Aff2
Sloboda, Natacha
Goldenberg, Alice
Küry, SébastienAff1, Aff2
Cogné, BenjaminAff1, Aff2
Breheret, Flora
Trochu, Eva
Conrad, Solène
Vincent, MarieAff1, Aff2
Deb, WallidAff1, Aff2
Balguerie, Xavier
Barbarot, Sébastien
Baujat, Geneviève
Ben-Omran, Tawfeg
Bursztejn, Anne-Claire
Carmignac, VirginieAff10, Aff11
Datta, Alexandre N.
Delignières, Aline
Faivre, LaurenceAff10, Aff11
Gardie, BettyAff2, Aff14
Guéant, Jean-Louis
Kuentz, PaulAff10, Aff11
Lenglet, MarionAff2, Aff14
Nassogne, Marie-Cécile
Ramaekers, Vincent
Schnur, Rhonda E.
Si, Yue
Torti, Erin
Thevenon, Julien
Vabres, PierreAff10, Aff11
Van Maldergem, LionelAff19, Aff20
Wand, Dorothea
Wiedemann, Arnaud
Cariou, Bertrand
Redon, Richard
Lamazière, Antonin
Bézieau, StéphaneAff1, Aff2
Feillet, Francois
Isidor, BertrandAff1, Aff2
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Źródło :
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 21(9):2025-2035
Czasopismo naukowe
Tytuł :
Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests
Autorzy :
Thauvin-Robinet, ChristelAff1, Aff2, Aff3, Aff4
Thevenon, JulienAff1, Aff2, Aff3, Aff4
Nambot, SophieAff2, Aff3
Delanne, Julian
Kuentz, PaulAff1, Aff2
Bruel, Ange-LineAff1, Aff2, Aff4
Chassagne, AlineAff1, Aff5
Cretin, ElodieAff1, Aff5
Pelissier, AuroreAff1, Aff6
Peyron, ChritineAff1, Aff6
Gautier, Elodie
Lehalle, DaphnéAff2, Aff3
Jean-Marçais, Nolwenn
Callier, PatrickAff1, Aff2, Aff4
Mosca-Boidron, Anne-LaureAff1, Aff2, Aff4
Vitobello, AntonioAff1, Aff2, Aff4
Sorlin, ArthurAff1, Aff2, Aff3, Aff4
Tran Mau-Them, FrédéricAff1, Aff2, Aff4
Philippe, ChristopheAff1, Aff2, Aff4
Vabres, PierreAff1, Aff2
Demougeot, Laurent
Poé, Charlotte
Jouan, Thibaud
Chevarin, Martin
Lefebvre, MathildeAff2, Aff3
Bardou, Marc
Tisserant, Emilie
Luu, Maxime
Binquet, Christine
Deleuze, Jean-François
Verstuyft, Céline
Duffourd, YannisAff1, Aff2
Faivre, LaurenceAff1, Aff2, Aff3, Aff9
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Źródło :
European Journal of Human Genetics. 27(8):1197-1214
Czasopismo naukowe
Tytuł :
2.5 years’ experience of GeneMatcher data-sharing: a powerful tool for identifying new genes responsible for rare diseases
Autorzy :
Bruel, Ange-LineAff1, Aff2
Vitobello, AntonioAff1, Aff2
Mau-Them, Frédéric TranAff1, Aff2
Nambot, SophieAff1, Aff2, Aff3
Duffourd, YannisAff1, Aff2
Quéré, VirginieAff1, Aff2
Kuentz, Paul
Garret, PhilippineAff1, Aff2, Aff4
Thevenon, JulienAff1, Aff3
Moutton, SébastienAff1, Aff3
Lehalle, DaphnéAff1, Aff3
Jean-Marçais, NolwennAff1, Aff3
Orphanomix Physicians’ Group
Garde, Aurore
Delanne, Julian
Lefebvre, MathildeAff1, Aff2
Lecoquierre, FrançoisAff1, Aff2
Trost, Detlef
Cho, Megan
Begtrup, Amber
Telegrafi, Aida
Vabres, PierreAff1, Aff6
Mosca-Boidron, Anne-LaureAff1, Aff2
Callier, PatrickAff1, Aff2
Philippe, ChristopheAff1, Aff2
Faivre, LaurenceAff1, Aff3
Thauvin-Robinet, ChristelAff1, Aff2, Aff3, Aff7
Pokaż więcej
Źródło :
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 21(7):1657-1661
Czasopismo naukowe
Tytuł :
The landscape of epilepsy-related GATOR1 variants
Autorzy :
Baldassari, SaraAff1, Aff2, Aff3, Aff4, Aff5
Picard, Fabienne
Verbeek, Nienke E.
van Kempen, Marjan
Brilstra, Eva H.
Lesca, Gaetan
Conti, Valerio
Guerrini, Renzo
Bisulli, Francesca
Licchetta, Laura
Pippucci, Tommaso
Tinuper, Paolo
Hirsch, Edouard
de Saint Martin, Anne
Chelly, Jamel
Rudolf, Gabrielle
Chipaux, Mathilde
Ferrand-Sorbets, Sarah
Dorfmüller, Georg
Sisodiya, Sanjay
Balestrini, Simona
Schoeler, Natasha
Hernandez-Hernandez, Laura
Krithika, S.
Oegema, Renske
Hagebeuk, Eveline
Gunning, Boudewijn
Deckers, Charles
Berghuis, Bianca
Wegner, Ilse
Niks, Erik
Jansen, Floor E.
Braun, Kees
de Jong, Daniëlle
Rubboli, Guido
Talvik, Inga
Sander, Valentin
Uldall, Peter
Jacquemont, Marie-Line
Nava, CarolineAff1, Aff2, Aff3, Aff4, Aff5
Leguern, EricAff1, Aff2, Aff3, Aff4, Aff5
Julia, Sophie
Gambardella, Antonio
d’Orsi, Giuseppe
Crichiutti, Giovanni
Faivre, Laurence
Darmency, Veronique
Benova, Barbora
Krsek, Pavel
Biraben, Arnaud
Lebre, Anne-Sophie
Jennesson, Mélanie
Sattar, Shifteh
Marchal, Cécile
Nordli, Jr, Douglas R
Lindstrom, Kristin
Striano, Pasquale
Lomax, Lysa BoisséAff40, Aff41
Kiss, Courtney
Bartolomei, Fabrice
Lepine, Anne Fabienne
Schoonjans, An-Sofie
Stouffs, Katrien
Jansen, Anna
Panagiotakaki, Eleni
Ricard-Mousnier, Brigitte
Thevenon, Julien
de Bellescize, Julitta
Catenoix, Hélène
Dorn, Thomas
Zenker, Martin
Müller-Schlüter, Karen
Brandt, Christian
Krey, Ilona
Polster, Tilman
Wolff, Markus
Balci, Meral
Rostasy, Kevin
Achaz, Guillaume
Zacher, Pia
Becher, Thomas
Cloppenborg, Thomas
Yuskaitis, Christopher J.Aff58, Aff59, Aff60
Weckhuysen, Sarah
Poduri, AnnapurnaAff58, Aff59, Aff60
Lemke, Johannes R.
Møller, Rikke S.
Baulac, StéphanieAff1, Aff2, Aff3, Aff4, Aff5
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Źródło :
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 21(2):398-408
Czasopismo naukowe
Tytuł :
Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome
Autorzy :
Vabres, PierreAff1, Aff2, Aff3
Sorlin, ArthurAff1, Aff2, Aff3, Aff4
Kholmanskikh, Stanislav S.
Demeer, BénédicteAff6, Aff7
St-Onge, JudithAff1, Aff2, Aff8
Duffourd, YannisAff1, Aff2
Kuentz, PaulAff1, Aff2, Aff9
Courcet, Jean-BenoîtAff1, Aff2, Aff4
Carmignac, VirginieAff2, Aff3
Garret, PhilippineAff1, Aff2
Bessis, Didier
Boute, Odile
Bron, Alain
Captier, Guillaume
Carmi, Esther
Devauchelle, BernardAff7, Aff15
Geneviève, David
Gondry-Jouet, Catherine
Guibaud, Laurent
Lafon, Arnaud
Mathieu-Dramard, Michèle
Thevenon, JulienAff1, Aff2, Aff4
Dobyns, William B.
Bernard, GenevièveAff8, Aff21, Aff22
Polubothu, Satyamaanasa
Faravelli, Francesca
Kinsler, Veronica A.
Thauvin, ChristelAff1, Aff2, Aff4
Faivre, LaurenceAff1, Aff2, Aff4
Ross, M. Elizabeth
Rivière, Jean-BaptisteAff1, Aff2, Aff8, Aff24
Pokaż więcej
Źródło :
Nature Genetics. 52(3):353-353
Czasopismo naukowe

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