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


Tytuł:
Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes
Autorzy:
Schöpflin, RobertAff1, Aff2, Aff3
Melo, Uirá SoutoAff1, Aff2
Moeinzadeh, Hossein
Heller, David
Laupert, Verena
Hertzberg, JakobAff1, Aff2, Aff3
Holtgrewe, ManuelAff4, Aff5
Alavi, Nico
Klever, Marius-KonstantinAff1, Aff2
Jungnitsch, JuliusAff1, Aff2
Comak, Emel
Türkmen, SevalAff2, Aff6
Horn, Denise
Duffourd, YannisAff7, Aff8
Faivre, LaurenceAff7, Aff9
Callier, PatrickAff7, Aff8
Sanlaville, Damien
Zuffardi, Orsetta
Tenconi, Romano
Kurtas, Nehir Edibe
Giglio, Sabrina
Prager, Bettina
Latos-Bielenska, Anna
Vogel, Ida
Bugge, Merete
Tommerup, Niels
Spielmann, MalteAff1, Aff19, Aff20
Vitobello, AntonioAff7, Aff8
Kalscheuer, Vera M.
Vingron, MartinAff3, IDs41467022340537_cor30
Mundlos, StefanAff1, Aff2, IDs41467022340537_cor31
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Źródło:
Nature Communications. 13(1)
Czasopismo naukowe
Tytuł:
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders
Autorzy:
Gillentine, Madelyn A.
Wang, Tianyun
Hoekzema, Kendra
Rosenfeld, JillAff2, Aff3
Liu, Pengfei
Guo, HuiAff1, Aff4
Kim, Chang N.Aff5, Aff6, Aff7, Aff8
De Vries, Bert B. A.
Vissers, Lisenka E. L. M.
Nordenskjold, MagnusAff10, Aff11
Kvarnung, MalinAff10, Aff11
Lindstrand, AnnaAff10, Aff11
Nordgren, AnnAff10, Aff11
Gecz, JozefAff12, Aff13, Aff14
Iascone, Maria
Cereda, Anna
Scatigno, Agnese
Maitz, Silvia
Zanni, Ginevra
Bertini, Enrico
Zweier, Christiane
Schuhmann, Sarah
Wiesener, Antje
Pepper, MicahAff20, Aff21
Panjwani, HeenaAff20, Aff21
Torti, Erin
Abid, FaridaAff23, Aff24
Anselm, Irina
Srivastava, Siddharth
Atwal, Paldeep
Bacino, Carlos A.
Bhat, Gifty
Cobian, Katherine
Bird, Lynne M.Aff28, Aff29
Friedman, JenniferAff28, Aff30, Aff31
Wright, Meredith S.Aff28, Aff30
Callewaert, Bert
Petit, Florence
Mathieu, Sophie
Afenjar, Alexandra
Christensen, Celenie K.
White, Kerry M.
Elpeleg, Orly
Berger, ItaiAff38, Aff39
Espineli, Edward J.Aff23, Aff24
Fagerberg, Christina
Brasch-Andersen, Charlotte
Hansen, Lars Kjærsgaard
Feyma, Timothy
Hughes, SusanAff43, Aff44
Thiffault, IsabelleAff44, Aff45
Sullivan, Bonnie
Yan, Shuang
Keller, Kory
Keren, Boris
Mignot, Cyril
Kooy, Frank
Meuwissen, Marije
Basinger, Alice
Kukolich, Mary
Philips, Meredith
Ortega, Lucia
Drummond-Borg, Margaret
Lauridsen, Mathilde
Sorensen, Kristina
Lehman, AnnaAff50, Aff51
Lopez-Rangel, ElenaAff50, Aff52, Aff53
Levy, Paul
Lessel, Davor
Lotze, Timothy
Madan-Khetarpal, SuneetaAff56, Aff57
Sebastian, Jessica
Vento, Jodie
Vats, Divya
Benman, L. Manace
Mckee, Shane
Mirzaa, Ghayda M.Aff61, Aff62, Aff63
Muss, Candace
Pappas, John
Peeters, Hilde
Romano, Corrado
Elia, Maurizio
Galesi, Ornella
Simon, Marleen E. H.
van Gassen, Koen L. I.
Simpson, Kara
Stratton, Robert
Syed, Sabeen
Thevenon, Julien
Palafoll, Irene Valenzuela
Vitobello, AntonioAff74, Aff75
Bournez, MarieAff76, Aff77
Faivre, LaurenceAff75, Aff77
Xia, Kun
Earl, Rachel K.Aff20, Aff21, Aff78
Nowakowski, TomaszAff5, Aff6, Aff7, Aff8
Bernier, Raphael A.Aff20, Aff21, Aff78
Eichler, Evan E.Aff1, Aff79, IDs13073021008706_cor100
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Źródło:
Genome Medicine. 13(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:
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:
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
Pokaż więcej
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
Pokaż więcej
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
Pokaż więcej
Źródło:
Nature Communications. 11(1)
Czasopismo naukowe
Tytuł:
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
Autorzy:
Snijders Blok, LotAff1, Aff2, Aff3
Rousseau, Justine
Twist, Joanna
Ehresmann, Sophie
Takaku, Motoki
Venselaar, Hanka
Rodan, Lance H.
Nowak, Catherine B.
Douglas, Jessica
Swoboda, Kathryn J.
Steeves, Marcie A.
Sahai, Inderneel
Stumpel, Connie T. R. M.
Stegmann, Alexander P. A.
Wheeler, Patricia
Willing, Marcia
Fiala, Elise
Kochhar, Aaina
Gibson, William T.Aff14, Aff15
Cohen, Ana S. A.Aff14, Aff15
Agbahovbe, RukyAff14, Aff15
Innes, A. Micheil
Au, P. Y. Billie
Rankin, Julia
Anderson, Ilse J.
Skinner, Steven A.
Louie, Raymond J.
Warren, Hannah E.
Afenjar, Alexandra
Keren, BorisAff21, Aff22
Nava, CarolineAff21, Aff22, Aff23
Buratti, Julien
Isapof, Arnaud
Rodriguez, Diana
Lewandowski, Raymond
Propst, Jennifer
van Essen, Ton
Choi, Murim
Lee, Sangmoon
Chae, Jong H.
Price, Susan
Schnur, Rhonda E.
Douglas, Ganka
Wentzensen, Ingrid M.
Zweier, Christiane
Reis, André
Bialer, Martin G.
Moore, Christine
Koopmans, Marije
Brilstra, Eva H.
Monroe, Glen R.
van Gassen, Koen L. I.
van Binsbergen, Ellen
Newbury-Ecob, Ruth
Bownass, Lucy
Bader, Ingrid
Mayr, Johannes A.
Wortmann, Saskia B.Aff37, Aff38, Aff39
Jakielski, Kathy J.
Strand, Edythe A.
Kloth, Katja
Bierhals, Tatjana
The DDD study
Roberts, John D.
Petrovich, Robert M.
Machida, Shinichi
Kurumizaka, Hitoshi
Lelieveld, Stefan
Pfundt, Rolph
Jansen, SandraAff1, Aff3
Deriziotis, Pelagia
Faivre, LaurenceAff44, Aff45
Thevenon, JulienAff44, Aff45
Assoum, MirnaAff44, Aff45
Shriberg, Lawrence
Kleefstra, TjitskeAff1, Aff3
Brunner, Han G.Aff1, Aff3, Aff10
Wade, Paul A.
Fisher, Simon E.Aff2, Aff3
Campeau, Philippe M.Aff4, Aff47
Pokaż więcej
Źródło:
Nature Communications. 10(1)
Czasopismo naukowe
Tytuł:
GATA2 gene analysis in several forms of hematological malignancies including familial aggregations
Autorzy:
Hamadou, Walid Sabri
Mani, Rahma
Besbes, Sawsen
Bourdon, Violaine
Youssef, Yosra Ben
Eisinger, François
Mari, Véronique
Gesta, Paul
Dreyfus, Hélène
Bonadona, Valérie
Dugast, Catherine
Zattara, Hélène
Faivre, Laurence
Noguchi, Testsuro
Khélif, Abderrahim
Sobol, Hagay
Soua, Zohra
Pokaż więcej
Źródło:
Annals of Hematology. October 2017 96(10):1635-1639
Czasopismo naukowe
Tytuł:
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
Autorzy:
Blok, Lot SnijdersAff1, Aff2, Aff3
Rousseau, Justine
Twist, Joanna
Ehresmann, Sophie
Takaku, Motoki
Venselaar, Hanka
Rodan, Lance H.
Nowak, Catherine B.
Douglas, Jessica
Swoboda, Kathryn J.
Steeves, Marcie A.
Sahai, Inderneel
Stumpel, Connie T. R. M.
Stegmann, Alexander P. A.
Wheeler, Patricia
Willing, Marcia
Fiala, Elise
Kochhar, Aaina
Gibson, William T.Aff14, Aff15
Cohen, Ana S. A.Aff14, Aff15
Agbahovbe, RukyAff14, Aff15
Innes, A. Micheil
Au, P. Y. Billie
Rankin, Julia
Anderson, Ilse J.
Skinner, Steven A.
Louie, Raymond J.
Warren, Hannah E.
Afenjar, Alexandra
Keren, BorisAff21, Aff22
Nava, CarolineAff21, Aff22, Aff23
Buratti, Julien
Isapof, Arnaud
Rodriguez, Diana
Lewandowski, Raymond
Propst, Jennifer
van Essen, Ton
Choi, Murim
Lee, Sangmoon
Chae, Jong H.
Price, Susan
Schnur, Rhonda E.
Douglas, Ganka
Wentzensen, Ingrid M.
Zweier, Christiane
Reis, André
Bialer, Martin G.
Moore, Christine
Koopmans, Marije
Brilstra, Eva H.
Monroe, Glen R.
van Gassen, Koen L. I.
van Binsbergen, Ellen
Newbury-Ecob, Ruth
Bownass, Lucy
Bader, Ingrid
Mayr, Johannes A.
Wortmann, Saskia B.Aff37, Aff38, Aff39
Jakielski, Kathy J.
Strand, Edythe A.
Kloth, Katja
Bierhals, Tatjana
The DDD study
Roberts, John D.
Petrovich, Robert M.
Machida, Shinichi
Kurumizaka, Hitoshi
Lelieveld, Stefan
Pfundt, Rolph
Jansen, SandraAff1, Aff3
Deriziotis, Pelagia
Faivre, LaurenceAff44, Aff45
Thevenon, JulienAff44, Aff45
Assoum, MirnaAff44, Aff45
Shriberg, Lawrence
Kleefstra, TjitskeAff1, Aff3
Brunner, Han G.Aff1, Aff3, Aff10
Wade, Paul A.
Fisher, Simon E.Aff2, Aff3
Campeau, Philippe M.Aff4, Aff47
Pokaż więcej
Źródło:
Nature Communications. 10(1)
Czasopismo naukowe
Tytuł:
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
Autorzy:
Snijders Blok, LotAff1, Aff2, Aff3
Rousseau, Justine
Twist, Joanna
Ehresmann, Sophie
Takaku, Motoki
Venselaar, Hanka
Rodan, Lance H.
Nowak, Catherine B.
Douglas, Jessica
Swoboda, Kathryn J.
Steeves, Marcie A.
Sahai, Inderneel
Stumpel, Connie T. R. M.
Stegmann, Alexander P. A.
Wheeler, Patricia
Willing, Marcia
Fiala, Elise
Kochhar, Aaina
Gibson, William T.Aff14, Aff15
Cohen, Ana S. A.Aff14, Aff15
Agbahovbe, RukyAff14, Aff15
Innes, A. Micheil
Au, P. Y. Billie
Rankin, Julia
Anderson, Ilse J.
Skinner, Steven A.
Louie, Raymond J.
Warren, Hannah E.
Afenjar, Alexandra
Keren, BorisAff21, Aff22
Nava, CarolineAff21, Aff22, Aff23
Buratti, Julien
Isapof, Arnaud
Rodriguez, Diana
Lewandowski, Raymond
Propst, Jennifer
van Essen, Ton
Choi, Murim
Lee, Sangmoon
Chae, Jong H.
Price, Susan
Schnur, Rhonda E.
Douglas, Ganka
Wentzensen, Ingrid M.
Zweier, Christiane
Reis, André
Bialer, Martin G.
Moore, Christine
Koopmans, Marije
Brilstra, Eva H.
Monroe, Glen R.
van Gassen, Koen L. I.
van Binsbergen, Ellen
Newbury-Ecob, Ruth
Bownass, Lucy
Bader, Ingrid
Mayr, Johannes A.
Wortmann, Saskia B.Aff37, Aff38, Aff39
Jakielski, Kathy J.
Strand, Edythe A.
Kloth, Katja
Bierhals, Tatjana
The DDD study
Roberts, John D.
Petrovich, Robert M.
Machida, Shinichi
Kurumizaka, Hitoshi
Lelieveld, Stefan
Pfundt, Rolph
Jansen, SandraAff1, Aff3
Deriziotis, Pelagia
Faivre, LaurenceAff44, Aff45
Thevenon, JulienAff44, Aff45
Assoum, MirnaAff44, Aff45
Shriberg, Lawrence
Kleefstra, TjitskeAff1, Aff3
Brunner, Han G.Aff1, Aff3, Aff10
Wade, Paul A.
Fisher, Simon E.Aff2, Aff3
Campeau, Philippe M.Aff4, Aff47
Pokaż więcej
Źródło:
Nature Communications. 9(1)
Czasopismo naukowe
Tytuł:
Correlation between clinical response to sorafenib in hepatocellular carcinoma treatment and polymorphisms of P-glycoprotein (ABCB1) and of breast cancer resistance protein (ABCG2): monocentric study
Autorzy:
Tandia, Mahamadou
Mhiri, Asma
Paule, Bernard
Saffroy, Raphaël
Cailliez, Valérie
Noé, Gaëlle
Farinotti, Robert
Bonhomme-Faivre, Laurence
Pokaż więcej
Źródło:
Cancer Chemotherapy and Pharmacology. April 2017 79(4):759-766
Czasopismo naukowe

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