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Tytuł :
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns
Autorzy :
Stamberger, HannahAff1, Aff2
Hammer, Trine B.Aff3, Aff4
Gardella, ElenaAff3, Aff5
Vlaskamp, Danique R. M.Aff1, Aff6, Aff7
Bertelsen, Birgitte
Mandelstam, SimoneAff9, Aff10, Aff11, Aff12, Aff13
de Lange, Iris
Zhang, Jing
Myers, Candace T.
Fenger, Christina
Afawi, Zaid
Almanza Fuerte, Edith P.
Andrade, Danielle M.
Balcik, Yunus
Ben Zeev, BruriaAff20, Aff21
Bennett, Mark F.Aff1, Aff22, Aff23
Berkovic, Samuel F.
Isidor, Bertrand
Bouman, Arjan
Brilstra, Eva
Busk, Øyvind L.
Cairns, Anita
Caumes, Roseline
Chatron, Nicolas
Dale, Russell C.
de Geus, Christa
Edery, PatrickAff29, Aff32
Gill, Deepak
Granild-Jensen, Jacob Bie
Gunderson, Lauren
Gunning, Boudewijn
Heimer, GaliAff20, Aff21
Helle, Johan R.
Hildebrand, Michael S.Aff1, Aff10
Hollingsworth, Georgie
Kharytonov, Volodymyr
Klee, Eric W.Aff34, Aff37
Koeleman, Bobby P. C.
Koolen, David A.
Korff, Christian
Küry, Sébastien
Lesca, Gaetan
Lev, DoritAff21, Aff40
Leventer, Richard J.Aff9, Aff10, Aff11
Mackay, Mark T.Aff9, Aff10, Aff11
Macke, Erica L.
McEntagart, Meriel
Mohammad, Shekeeb S.
Monin, Pauline
Montomoli, Martino
Morava, EvaAff34, Aff37
Moutton, SebastienAff43, Aff44
Muir, Alison M.
Parrini, Elena
Procopis, PeterAff30, Aff45
Ranza, Emmanuelle
Reed, Laura
Reif, Philipp S.
Rosenow, Felix
Rossi, MassimilianoAff29, Aff32
Sadleir, Lynette G.
Sadoway, Tara
Schelhaas, Helenius J.
Schneider, Amy L.
Shah, Krati
Shalev, Ruth
Sisodiya, Sanjay M.
Smol, Thomas
Stumpel, Connie T. R. M.
Stuurman, Kyra
Symonds, Joseph D.Aff54, Aff55
Mau-Them, Frederic TranAff56, Aff57
Verbeek, Nienke
Verhoeven, Judith S.
Wallace, GeoffreyAff27, Aff59
Yosovich, Keren
Zarate, Yuri A.
Zerem, AyeletAff21, Aff62
Zuberi, Sameer M.Aff54, Aff55
Guerrini, Renzo
Mefford, Heather C.
Patel, Chirag
Zhang, Yue-Hua
Møller, Rikke S.Aff3, Aff5
Scheffer, Ingrid E.Aff1, Aff9, Aff10, Aff11, Aff13
Pokaż więcej
Źródło :
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 23(2):363-373
Czasopismo naukowe
Tytuł :
De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy
Autorzy :
Singh, Sakshi
Gupta, AditiAff2, Aff3
Zech, MichaelAff4, Aff5
Sigafoos, Ashley N.Aff2, Aff6
Clark, Karl J.Aff2, Aff6
Dincer, YaseminAff7, Aff8
Wagner, MatiasAff4, Aff5
Humberson, Jennifer B.
Green, Sarah
van Gassen, Koen
Brandt, Tracy
Schnur, Rhonda E.
Millan, Francisca
Si, Yue
Mall, VolkerAff7, Aff12
Winkelmann, JulianeAff4, Aff5, Aff13, Aff14
Gavrilova, Ralitza H.Aff2, Aff15, Aff16
Klee, Eric W.Aff2, Aff3, Aff15
Engleman, Kendra
Safina, Nicole P.
Slaugh, Rachel
Bryant, Emily M.
Tan, Wen-Hann
Granadillo, Jorge
Misra, Sunita N.
Schaefer, G. Bradley
Towner, Shelley
Brilstra, Eva H.
Koeleman, Bobby P. C.
Pokaż więcej
Źródło :
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 22(8):1413-1417
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 :
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 :
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 :
Correction: 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 H.
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
NordliJr, 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(8):1896-1896
Czasopismo naukowe
Tytuł :
Correction to: 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
Martin, Anne de Saint
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
Braun, Kees
Jong, Daniëlle de
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
NordliJr, 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
Bellescize, Julitta de
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(7):1671-1671
Czasopismo naukowe

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