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Wyszukujesz frazę ""Nava, Caroline"" wg kryterium: Autor


Tytuł :
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies
Autorzy :
Dworschak, Gabriel C.Aff1, Aff2, Aff3
Punetha, JayaAff4, Aff5
Kalanithy, Jeshurun C.Aff1, Aff2
Mingardo, EnricoAff1, Aff2
Erdem, Haktan B.
Akdemir, Zeynep C.
Karaca, Ender
Mitani, Tadahiro
Marafi, Dana
Fatih, Jawid M.
Jhangiani, Shalini N.
Hunter, Jill V.
Dakal, Tikam Chand
Dhabhai, Bhanupriya
Dabbagh, Omar
Alsaif, Hessa S.
Alkuraya, Fowzan S.Aff12, Aff13
Maroofian, Reza
Houlden, Henry
Efthymiou, Stephanie
Dominik, Natalia
Salpietro, Vincenzo
Sultan, Tipu
Haider, Shahzad
Bibi, Farah
Thiele, Holger
Hoefele, Julia
Riedhammer, Korbinian M.Aff19, Aff20
Wagner, MatiasAff19, Aff21, Aff22
Guella, Ilaria
Demos, Michelle
Keren, Boris
Buratti, Julien
Charles, Perrine
Nava, CarolineAff25, Aff26
Héron, Delphine
Heide, Solveig
Valkanas, Elise
Waddell, Leigh B.Aff28, Aff29
Jones, Kristi J.Aff28, Aff29
Oates, Emily C.Aff28, Aff30
Cooper, Sandra T.Aff28, Aff29, Aff31
MacArthur, DanielAff32, Aff33, Aff34
Syrbe, Steffen
Ziegler, Andreas
Platzer, Konrad
Okur, Volkan
Chung, Wendy K.
O’Shea, Sarah A.
Alcalay, Roy
Fahn, Stanley
Mark, Paul R.
Guerrini, Renzo
Vetro, Annalisa
Hudson, Beth
Schnur, Rhonda E.
Hoganson, George E.
Burton, Jennifer E.
McEntagart, Meriel
Lindenberg, Tobias
Yilmaz, Öznur
Odermatt, BenjaminAff2, Aff46
Pehlivan, DavutAff4, Aff47
Posey, Jennifer E.
Lupski, James R.Aff4, Aff8, Aff48, Aff49
Reutter, HeikoAff1, Aff50
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Źródło :
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 23(9):1715-1725
Czasopismo naukowe
Tytuł :
Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia
Autorzy :
Doummar, DianeAff1, Aff2
Dentel, Christel
Lyautey, Romane
Metreau, Julia
Keren, Boris
Drouot, NathalieAff7, Aff8
Malherbe, Ludivine
Bouilleret, Viviane
Courraud, JérémieAff7, Aff8
Valenti-Hirsch, Maria Paola
Minotti, Lorella
Dozieres-Puyravel, Blandine
Bär, Séverine
Scholly, Julia
Schaefer, EliseAff13, Aff14
Nava, Caroline
Wirth, Thomas
Nasser, HalaAff16, Aff17
de Salins, Marie
de Saint Martin, Anne
Warde, Marie Thérèse Abi
Kahane, Philippe
Hirsch, Edouard
Anheim, MathieuAff7, Aff8, Aff19
Friant, Sylvie
Chelly, JamelAff7, Aff8, Aff20
Mignot, CyrilAff6, Aff21, Aff22
Rudolf, GabrielleAff7, Aff8, Aff10, Aff15
Pokaż więcej
Źródło :
European Journal of Human Genetics. 28(10):1403-1413
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 :
Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature
Autorzy :
Piard, Juliette
Hawkes, Lara
Milh, MathieuAff3, Aff4
Villard, LaurentAff3, Aff5
Borgatti, Renato
Romaniello, Romina
Fradin, Melanie
Capri, Yline
Héron, Delphine
Nougues, Marie-Christine
Nava, Caroline
Arsene, Oana Tarta
Shears, Debbie
Taylor, John
Pagnamenta, Alistair
Taylor, Jenny C
Sogawa, Yoshimi
Johnson, Diana
Firth, HelenAff17, Aff18
Vasudevan, Pradeep
Jones, Gabriela
Nguyen-Morel, Marie-Ange
Busa, Tiffany
Roubertie, Agathe
van den Born, Myrthe
Brischoux-Boucher, Elise
Koenig, Michel
Mignot, Cyril
DDD Study
Kini, Usha
Philippe, ChristopheAff24, Aff25
Pokaż więcej
Źródło :
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 21(7):1667-1671
Czasopismo naukowe
Tytuł :
The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature
Autorzy :
Piard, Juliette
Hawkes, Lara
Milh, MathieuAff3, Aff4
Villard, LaurentAff3, Aff5
Borgatti, Renato
Romaniello, Romina
Fradin, Melanie
Capri, Yline
Héron, Delphine
Nougues, Marie-Christine
Nava, Caroline
Arsene, Oana Tarta
Shears, Debbie
Taylor, John
Pagnamenta, Alistair
Taylor, Jenny C
Sogawa, Yoshimi
Johnson, Diana
Firth, HelenAff17, Aff18
Vasudevan, Pradeep
Jones, Gabriela
Nguyen-Morel, Marie-Ange
Busa, Tiffany
Roubertie, Agathe
van den Born, Myrthe
Brischoux-Boucher, Elise
Koenig, Michel
Mignot, Cyril
DDD Study
Kini, Usha
Philippe, ChristopheAff24, Aff25
Pokaż więcej
Źródło :
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 21(6):1308-1318
Czasopismo naukowe
Tytuł :
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients
Autorzy :
Mignot, CyrilAff1, Aff2
McMahon, Aoife C.
Bar, ClaireAff4, Aff5, Aff6
Campeau, Philippe M
Davidson, Claire
Buratti, Julien
Nava, CarolineAff1, Aff2
Jacquemont, Marie-Line
Tallot, Marilyn
Milh, MathieuAff9, Aff10
Edery, PatrickAff11, Aff12, Aff13
Marzin, Pauline
Barcia, GiuliaAff5, Aff6, Aff14
Barnerias, Christine
Besmond, ClaudeAff5, Aff6
Bienvenu, ThierryAff16, Aff17
Bruel, Ange-LineAff18, Aff19
Brunga, Ledia
Ceulemans, Berten
Coubes, Christine
Cristancho, Ana G.
Cunningham, Fiona
Dehouck, Marie-Bertille
Donner, Elizabeth J.
Duban-Bedu, Bénédicte
Dubourg, Christèle
Gardella, ElenaAff26, Aff27
Gauthier, Julie
Geneviève, DavidAff22, Aff28
Gobin-Limballe, Stéphanie
Goldberg, Ethan M.
Hagebeuk, Eveline
Hamdan, Fadi F.
Hančárová, Miroslava
Hubert, LaurenceAff5, Aff6
Ioos, Christine
Ichikawa, Shoji
Janssens, Sandra
Journel, Hubert
Kaminska, Anna
Keren, Boris
Koopmans, Marije
Lacoste, Caroline
Laššuthová, Petra
Lederer, Damien
Lehalle, DaphnéAff18, Aff40
Marjanovic, Dragan
Métreau, Julia
Michaud, Jacques L.
Miller, Kathryn
Minassian, Berge A.
Morales, Joannella
Moutard, Marie-LaureAff43, Aff44
Munnich, ArnoldAff5, Aff6, Aff14
Ortiz-Gonzalez, Xilma R.
Pinard, Jean-Marc
Prchalová, Darina
Putoux, AudreyAff11, Aff12, Aff13
Quelin, Chloé
Rosen, Alyssa R.
Roume, Joelle
Rossignol, Elsa
Simon, Marleen E. H.
Smol, Thomas
Shur, Natasha
Shelihan, Ivan
Štěrbová, Katalin
Vyhnálková, Emílie
Vilain, CathelineAff50, Aff51, Aff52
Soblet, JulieAff50, Aff51, Aff52
Smits, GuillaumeAff50, Aff51, Aff52
Yang, Samuel P.
van der Smagt, Jasper J.
van Hasselt, Peter M.
van Kempen, Marjan
Weckhuysen, SarahAff55, Aff56
Helbig, Ingo
Villard, LaurentAff10, Aff37
Héron, Delphine
Koeleman, Bobby
Møller, Rikke S.Aff25, Aff26
Lesca, GaetanAff11, Aff12, Aff13
Helbig, Katherine L.
Nabbout, RimaAff4, Aff5, Aff6
Verbeek, Nienke E.
Depienne, ChristelAff1, Aff57, Aff58
Pokaż więcej
Źródło :
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 21(4):837-849
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
Pokaż więcej
Źródło :
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 21(2):398-408
Czasopismo naukowe
Tytuł :
Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A
Autorzy :
Steward, Charles A.Aff1, Aff2
Roovers, JolienAff3, Aff4
Suner, Marie-MartheAff2, Aff5
Gonzalez, Jose M.Aff2, Aff5
Uszczynska-Ratajczak, BarbaraAff6, Aff7, Aff8
Pervouchine, Dmitri
Fitzgerald, Stephen
Viola, MargaridaAff3, Aff4
Stamberger, HannahAff3, Aff4, Aff10
Hamdan, Fadi F.
Ceulemans, Berten
Leroy, Patricia
Nava, CarolineAff14, Aff15
Lepine, Anne
Tapanari, ElectraAff2, Aff5
Keiller, Don
Abbs, Stephen
Sanchis-Juan, Alba
Grozeva, Detelina
Rogers, Anthony S.
Diekhans, Mark
Guigó, RodericAff6, Aff7
Petryszak, Robert
Minassian, Berge A.Aff22, Aff23
Cavalleri, Gianpiero
Vitsios, Dimitrios
Petrovski, Slavé
Harrow, JenniferAff2, Aff5, Aff26
Flicek, Paul
Lucy Raymond, F.
Lench, Nicholas J.Aff1, Aff27
Jonghe, Peter DeAff3, Aff4, Aff10
Mudge, Jonathan M.Aff2, Aff5
Weckhuysen, SarahAff3, Aff4, Aff10
Sisodiya, Sanjay M.Aff28, Aff29
Frankish, AdamAff2, Aff5
Pokaż więcej
Źródło :
npj Genomic Medicine. 4(1)
Czasopismo naukowe
Tytuł :
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2
Autorzy :
Corbett, Mark A.
Kroes, Thessa
Veneziano, Liana
Bennett, Mark F.Aff3, Aff4, Aff5
Florian, Rahel
Schneider, Amy L.
Coppola, Antonietta
Licchetta, LauraAff8, Aff9
Franceschetti, SilvanaAff10, Aff11
Suppa, AntonioAff12, Aff13
Wenger, Aaron
Mei, Davide
Pendziwiat, Manuela
Kaya, Sabine
Delledonne, Massimo
Straussberg, RachelAff18, Aff19
Xumerle, Luciano
Regan, Brigid
Crompton, DouglasAff5, Aff21
van Rootselaar, Anne-Fleur
Correll, Anthony
Catford, Rachael
Bisulli, FrancescaAff8, Aff9
Chakraborty, Shreyasee
Baldassari, Sara
Tinuper, PaoloAff8, Aff9
Barton, Kirston
Carswell, Shaun
Smith, MartinAff24, Aff25
Berardelli, AlfredoAff12, Aff13
Carroll, Renee
Gardner, Alison
Friend, Kathryn L.
Blatt, Ilan
Iacomino, Michele
Di Bonaventura, Carlo
Striano, Salvatore
Buratti, Julien
Keren, Boris
Nava, Caroline
Forlani, Sylvie
Rudolf, GabrielleAff31, Aff32, Aff33, Aff34, Aff35
Hirsch, Edouard
Leguern, EricAff29, Aff30
Labauge, Pierre
Balestrini, SimonaAff37, Aff38
Sander, Josemir W.Aff37, Aff38
Afawi, Zaid
Helbig, IngoAff39, Aff16
Ishiura, Hiroyuki
Tsuji, ShojiAff40, Aff41, Aff42
Sisodiya, Sanjay M.Aff37, Aff38
Casari, Giorgio
Sadleir, Lynette G.
van Coller, Riaan
Tijssen, Marina A. J.
Klein, Karl MartinAff47, Aff48, Aff49
van den Maagdenberg, Arn M. J. M.
Zara, Federico
Guerrini, Renzo
Berkovic, Samuel F.
Pippucci, Tommaso
Canafoglia, LauraAff10, Aff11
Bahlo, MelanieAff3, Aff4
Striano, PasqualeAff52, Aff53
Scheffer, Ingrid E.Aff5, Aff54
Brancati, FrancescoAff2, Aff55, Aff56
Depienne, ChristelAff6, Aff31, Aff35
Gecz, JozefAff1, Aff57
Pokaż więcej
Źródło :
Nature Communications. 10(1)
Czasopismo naukowe
Tytuł :
Clinical and genetic study of Tunisian families with genetic generalized epilepsy: contribution of CACNA1H and MAST4 genes
Autorzy :
Landoulsi, Zied
Laatar, Fatma
Noé, Eric
Mrabet, Saloua
Ben Djebara, MounaAff1, Aff3
Achaz, GuillaumeAff4, Aff5
Nava, CarolineAff2, Aff6
Baulac, Stéphanie
Kacem, ImenAff1, Aff3
Gargouri-Berrechid, AminaAff1, Aff3
Gouider, RiadhAff1, Aff3
Leguern, EricAff2, Aff6
Pokaż więcej
Źródło :
neurogenetics. 19(3):165-178
Czasopismo naukowe
Tytuł :
SCN1A-related epilepsy with recessive inheritance: Two further families.
Autorzy :
Moretti, Raffaella
Arnaud, Lionel
Bouteiller, Delphine
Trouillard, Oriane
Moreau, Patricia
Buratti, Julien
Rastetter, Agnès
Keren, Boris
Des Portes, Vincent
Toulouse, Joseph
Gourfinkel-An, Isabelle
Leguern, Eric
Depienne, Christel
Mignot, Cyril
Nava, Caroline
Pokaż więcej
Źródło :
European Journal of Paediatric Neurology; Jul2021, Vol. 33, p121-124, 4p
Czasopismo naukowe

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