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Wyszukujesz frazę ""Faivre, Laurence"" wg kryterium: Autor


Tytuł :
Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity
Autorzy :
Thomas, QuentinAff1, Aff2, Aff3
Gautier, Thierry
Marafi, DanaAff5, Aff6
Besnard, ThomasAff7, Aff8
Willems, Marjolaine
Moutton, SébastienAff1, Aff2
Isidor, BertandAff7, Aff8
Cogné, BenjaminAff7, Aff8
Conrad, SolèneAff7, Aff8
Tenconi, Romano
Iascone, Maria
Sorlin, ArthurAff1, Aff2, Aff11
Masurel, AliceAff1, Aff2
Dabir, Tabib
Jackson, Adam
Banka, SiddharthAff13, Aff14
Delanne, JulianAff1, Aff2
Lupski, James R.Aff5, Aff15, Aff16, Aff17
Saadi, Nebal WaillAff18, Aff19
Alkuraya, Fowzan S.Aff20, Aff21
Zahrani, Fatema Al
Agrawal, Pankaj B.Aff22, Aff23
England, Eleina
Madden, Jill A.
Posey, Jennifer E.
Burglen, LydieAff27, Aff28
Rodriguez, Diana
Chevarin, MartinAff1, Aff11
Nguyen, SylvieAff1, Aff11
Mau-Them, Frédéric TranAff1, Aff11
Duffourd, YannisAff1, Aff11
Garret, PhilippineAff1, Aff11
Bruel, Ange-LineAff1, Aff11
Callier, PatrickAff1, Aff11
Marle, NathalieAff1, Aff11
Denomme-Pichon, Anne-SophieAff1, Aff11
Duplomb, LaurenceAff1, Aff11
Philippe, ChristopheAff1, Aff11
Thauvin-Robinet, ChristelAff1, Aff2, Aff11, Aff30
Govin, Jérôme
Faivre, LaurenceAff1, Aff2, Aff11, Aff31
Vitobello, AntonioAff1, Aff11
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Źródło :
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 23(10):1901-1911
Czasopismo naukowe
Tytuł :
Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype
Autorzy :
Zanoni, Paolo
Steindl, Katharina
Sengupta, Deepanwita
Joset, Pascal
Bahr, Angela
Sticht, Heinrich
Lang-Muritano, MariarosariaAff4, Aff5
van Ravenswaaij-Arts, Conny M. A.
Shinawi, Marwan
Andrews, Marisa
Attie-Bitach, TaniaAff8, Aff9
Maystadt, IsabelleAff10, Aff11
Belnap, NewellAff12, Aff13
Benoit, ValerieAff10, Aff14
Delplancq, GeoffroyAff15, Aff16
de Vries, Bert B. A.
Grotto, Sarah
Lacombe, Didier
Larson, Austin
Mourmans, Jeroen
Õunap, KatrinAff22, Aff23
Petrilli, Giulia
Pfundt, Rolph
Ramsey, KeriAff12, Aff13
Blok, Lot Snijders
Tsatsaris, Vassilis
Vitobello, Antonio
Faivre, Laurence
Wheeler, Patricia G.
Wevers, Marijke R.
Wojcik, MonicaAff27, Aff28
Zweier, Markus
Gozani, Or
Rauch, AnitaAff1, Aff29, Aff30
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Źródło :
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 23(8):1474-1483
Czasopismo naukowe
Tytuł :
Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities
Autorzy :
Carmignac, VirginieAff1, Aff2
Mignot, CyrilAff3, Aff4
Blanchard, EmmanuelleAff5, Aff6
Kuentz, PaulAff1, Aff7
Aubriot-Lorton, Marie-Hélène
Parker, Victoria E. R.
Sorlin, ArthurAff1, Aff7, Aff10
Fraitag, Sylvie
Courcet, Jean-BenoîtAff1, Aff7, Aff10
Duffourd, YannisAff1, Aff7
Rodriguez, Diana
Knox, Rachel G.
Polubothu, SatyamaanasaAff12, Aff13, Aff14
Boland, Anne
Olaso, Robert
Delepine, Marc
Darmency, Véronique
Riachi, MelissaAff13, Aff14
Quelin, Chloé
Rollier, Paul
Goujon, Louise
Grotto, Sarah
Capri, Yline
Jacquemont, Marie-Line
Odent, Sylvie
Amram, Daniel
Chevarin, MartinAff1, Aff20
Vincent-Delorme, Catherine
Catteau, Benoît
Guibaud, Laurent
Arzimanoglou, AlexisAff24, Aff25
Keddar, Malika
Sarret, Catherine
Callier, PatrickAff1, Aff7, Aff26
Bessis, Didier
Geneviève, David
Deleuze, Jean-François
Thauvin, ChristelAff1, Aff7, Aff30
Semple, Robert K.Aff9, Aff31
Philippe, Christophe
Rivière, Jean-BaptisteAff1, Aff7
Kinsler, Veronica A.Aff12, Aff13, Aff14
Faivre, LaurenceAff1, Aff7, Aff32
Vabres, PierreAff1, Aff2, Aff7
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Źródło :
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 23(8):1484-1491
Czasopismo naukowe
Tytuł :
Correspondence on “De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females” by Polla et al.
Autorzy :
Riccardi, FlorenceAff1, Aff2
Astier, Alexandre
Grisval, Margot
Maillard, Arnaud
Michaud, VincentAff5, Aff6
Badens, CatherineAff2, Aff7
Gordon, Christopher T.
Trimouille, AurélienAff5, Aff6
Faivre, LaurenceAff3, Aff9
Amiel, JeanneAff4, Aff8
Sigaudy, SabineAff1, Aff2
Gorokhova, SvetlanaAff1, Aff2
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Źródło :
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 23(10):2003-2004
Czasopismo naukowe
Tytuł :
Cystoid maculopathy is a frequent feature of Cohen syndrome-associated retinopathy
Autorzy :
Gabrielle, Pierre-Henry
Faivre, LaurenceAff2, Aff3, Aff4
Audo, IsabelleAff5, Aff6
Zanlonghi, Xavier
Dollfus, HélèneAff8, Aff9
Thiadens, Alberta A. H. J.
Zeitz, Christina
Mancini, Grazia M. S.
Perdomo, YaumaraAff8, Aff9
Mohand-Saïd, SaddekAff5, Aff6
Lizé, Eléonore
Lhussiez, Vincent
Nandrot, Emeline F.
Acar, Niyazi
Creuzot-Garcher, CatherineAff1, Aff12
Sahel, José-AlainAff5, Aff6, Aff13
Ansar, MuhammadAff14, Aff16
Thauvin-Robinet, ChristelAff2, Aff3, Aff15
Duplomb, LaurenceAff2, Aff3
Da Costa, RomainAff2, Aff3
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Źródło :
Scientific Reports. 11(1)
Czasopismo naukowe
Tytuł :
Diagnostic chest X-rays and breast cancer risk among women with a hereditary predisposition to breast cancer unexplained by a BRCA1 or BRCA2 mutation
Autorzy :
Ribeiro Guerra, MaximilianoAff1, Aff2, Aff3, Aff4, Aff5
Coignard, JulietteAff1, Aff2, Aff3, Aff4
Eon-Marchais, SéverineAff1, Aff2, Aff3, Aff4
Dondon, Marie-GabrielleAff1, Aff2, Aff3, Aff4
Le Gal, DorothéeAff1, Aff2, Aff3, Aff4
Beauvallet, JuanaAff1, Aff2, Aff3, Aff4
Mebirouk, NouraAff1, Aff2, Aff3, Aff4
Belotti, Muriel
Caron, Olivier
Gauthier-Villars, Marion
Coupier, IsabelleAff8, Aff9
Buecher, Bruno
Lortholary, Alain
Fricker, Jean-Pierre
Gesta, Paul
Noguès, CatherineAff13, Aff14
Faivre, LaurenceAff15, Aff16
Berthet, Pascaline
Luporsi, Elisabeth
Delnatte, Capucine
Bonadona, ValérieAff20, Aff21, Aff22
Maugard, Christine M.Aff23, Aff24
Pujol, PascalAff8, Aff9
Lasset, ChristineAff20, Aff21, Aff22
Longy, Michel
Bignon, Yves-Jean
Adenis-Lavignasse, Claude
Venat-Bouvet, Laurence
Dreyfus, HélèneAff29, Aff30
Gladieff, Laurence
Mortemousque, Isabelle
Audebert-Bellanger, Séverine
Soubrier, Florent
Giraud, Sophie
Lejeune-Dumoulin, Sophie
Limacher, Jean-Marc
Chiesa, Jean
Fajac, Anne
Floquet, Anne
Eisinger, FrançoisAff13, Aff14
Tinat, Julie
Fert-Ferrer, Sandra
Colas, ChrystelleAff6, Aff42
Frebourg, Thierry
Damiola, Francesca
Barjhoux, Laure
Cavaciuti, EveAff1, Aff2, Aff3, Aff4
Mazoyer, Sylvie
Tardivon, Anne
Lesueur, FabienneAff1, Aff2, Aff3, Aff4
Stoppa-Lyonnet, DominiqueAff6, Aff48, Aff49
Andrieu, NadineAff1, Aff2, Aff3, Aff4
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Źródło :
Breast Cancer Research. 23(1)
Czasopismo naukowe
Tytuł :
Correction to: Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities
Autorzy :
Carmignac, VirginieAff1, Aff2
Mignot, CyrilAff3, Aff4
Blanchard, EmmanuelleAff5, Aff6
Kuentz, PaulAff1, Aff7
Aubriot-Lorton, Marie-Hélène
Parker, Victoria E. R.
Sorlin, ArthurAff1, Aff7, Aff10
Fraitag, Sylvie
Courcet, Jean-BenoîtAff1, Aff7, Aff10
Duffourd, YannisAff1, Aff7
Rodriguez, Diana
Knox, Rachel G.
Polubothu, SatyamaanasaAff12, Aff13, Aff14
Boland, Anne
Olaso, Robert
Delepine, Marc
Darmency, Véronique
Riachi, MelissaAff13, Aff14
Quelin, Chloé
Rollier, Paul
Goujon, Louise
Grotto, Sarah
Capri, Yline
Jacquemont, Marie-Line
Odent, Sylvie
Amram, Daniel
Chevarin, MartinAff1, Aff20
Vincent-Delorme, Catherine
Catteau, Benoît
Guibaud, Laurent
Arzimanoglou, AlexisAff24, Aff25
Keddar, Malika
Sarret, Catherine
Callier, PatrickAff1, Aff7, Aff26
Bessis, Didier
Geneviève, David
Deleuze, Jean-François
Thauvin, ChristelAff1, Aff7, Aff30
Semple, Robert K.Aff9, Aff31
Philippe, Christophe
Rivière, Jean-BaptisteAff1, Aff7
Kinsler, Veronica A.Aff12, Aff13, Aff14
Faivre, LaurenceAff1, Aff7, Aff32
Vabres, PierreAff1, Aff2, Aff7
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Źródło :
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 23(8):1585-1585
Czasopismo naukowe
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 :
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 :
Vps13b is required for acrosome biogenesis through functions in Golgi dynamic and membrane trafficking
Autorzy :
Da Costa, RomainAff1, Aff2
Bordessoules, MorganeAff1, Aff2
Guilleman, Magali
Carmignac, VirginieAff1, Aff4
Lhussiez, Vincent
Courot, Hortense
Bataille, Amandine
Chlémaire, Amandine
Bruno, CélineAff1, Aff3
Fauque, PatriciaAff1, Aff3
Thauvin, ChristelAff1, Aff2, Aff6
Faivre, LaurenceAff1, Aff2, Aff7
Duplomb, LaurenceAff1, Aff2
Pokaż więcej
Źródło :
Cellular and Molecular Life Sciences. 77(3):511-529
Czasopismo naukowe
Tytuł :
Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity
Autorzy :
Asselin, LaureAff1, Aff2, Aff3, Aff4
Rivera Alvarez, JoséAff1, Aff2, Aff3, Aff4
Heide, SolveigAff5, Aff6, Aff7
Bonnet, Camille S.Aff1, Aff2, Aff3, Aff4
Tilly, PeggyAff1, Aff2, Aff3, Aff4
Vitet, Hélène
Weber, ChantalAff1, Aff2, Aff3, Aff4
Bacino, Carlos A.Aff9, Aff10
Baranaño, Kristin
Chassevent, Anna
Dameron, Amy
Faivre, LaurenceAff13, Aff14
Hanchard, Neil A.
Mahida, Sonal
McWalter, Kirsty
Mignot, CyrilAff5, Aff6, Aff7, Aff16
Nava, CarolineAff5, Aff16
Rastetter, Agnès
Streff, HaleyAff9, Aff10
Thauvin-Robinet, ChristelAff13, Aff17
Weiss, Marjan M.
Zapata, Gladys
Zwijnenburg, Petra J. G.
Saudou, Frédéric
Depienne, ChristelAff1, Aff2, Aff3, Aff4, Aff16, Aff19
Golzio, ChristelleAff1, Aff2, Aff3, Aff4
Héron, DelphineAff5, Aff6, Aff7
Godin, Juliette D.Aff1, Aff2, Aff3, Aff4
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Źródło :
Nature Communications. 11(1)
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
Pokaż więcej
Źródło :
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 21(9):2025-2035
Czasopismo naukowe

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