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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 :
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 :
BLAST paradigm: A new test to assess brief attentional fluctuations in children with epilepsy, ADHD, and normally developing children
Autorzy :
THIEUX, Marine
Jung, Julien
Bouet, Romain
Gérard, Daniel
Bauer, Prisca
Bertrand, Olivier
Perrone-Bertolotti, Marcela
Arzimanoglou, Alexis
Kahane, Philippe
Lachaux, Jean-Philippe
De Bellescize, Julitta
Herbillon, Vania
Pokaż więcej
Temat :
[SCCO.PSYC]Cognitive science/Psychology
Źródło :
Epilepsy & Behavior, [San Diego CA]: Elsevier B.V., 2019, 99, pp.106470. ⟨10.1016/j.yebeh.2019.106470⟩
Tytuł :
BLAST paradigm: A new test to assess brief attentional fluctuations in children with epilepsy, ADHD, and normally developing children
Autorzy :
THIEUX, Marine
Jung, Julien
Bouet, Romain
Gérard, Daniel
Bauer, Prisca
Bertrand, Olivier
Perrone-Bertolotti, Marcela
Arzimanoglou, Alexis
Kahane, Philippe
Lachaux, Jean-Philippe
De Bellescize, Julitta
Herbillon, Vania
Pokaż więcej
Temat :
[SCCO.PSYC]Cognitive science/Psychology
ComputingMilieux_MISCELLANEOUS
Źródło :
Epilepsy & Behavior, [San Diego CA]: Elsevier B.V., 2019, 99, pp.106470. ⟨10.1016/j.yebeh.2019.106470⟩
Tytuł :
Erratum:Correction: The landscape of epilepsy-related GATOR1 variants (Genetics in medicine : official journal of the American College of Medical Genetics (2019) 21 2 (398-408))
Autorzy :
Baldassari, Sara
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, Caroline
Leguern, Eric
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 Boissé
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.
Weckhuysen, Sarah
Poduri, Annapurna
Lemke, Johannes R.
Møller, Rikke S.
Baulac, Stéphanie
Pokaż więcej
Źródło :
Baldassari, S, Picard, F, Verbeek, N E, van Kempen, M, Brilstra, E H, Lesca, G, Conti, V, Guerrini, R, Bisulli, F, Licchetta, L, Pippucci, T, Tinuper, P, Hirsch, E, de Saint Martin, A, Chelly, J, Rudolf, G, Chipaux, M, Ferrand-Sorbets, S, Dorfmüller, G, Sisodiya, S, Balestrini, S, Schoeler, N, Hernandez-Hernandez, L, Krithika, S, Oegema, R, Hagebeuk, E, Gunning, B, Deckers, C, Berghuis, B, Wegner, I, Niks, E H, Jansen, F E, Braun, K, de Jong, D, Rubboli, G, Talvik, I, Sander, V, Uldall, P, Jacquemont, M L, Nava, C, Leguern, E, Julia, S, Gambardella, A, d'Orsi, G, Crichiutti, G, Faivre, L, Darmency, V, Benova, B, Krsek, P, Biraben, A, Lebre, A S, Jennesson, M, Sattar, S, Marchal, C, NordliJr, D R, Lindstrom, K, Striano, P, Lomax, L B, Kiss, C, Bartolomei, F, Lepine, A F, Schoonjans, A S, Stouffs, K, Jansen, A, Panagiotakaki, E, Ricard-Mousnier, B, Thevenon, J, de Bellescize, J, Catenoix, H, Dorn, T, Zenker, M, Müller-Schlüter, K, Brandt, C, Krey, I, Polster, T, Wolff, M, Balci, M, Rostasy, K, Achaz, G, Zacher, P, Becher, T, Cloppenborg, T, Yuskaitis, C J, Weckhuysen, S, Poduri, A, Lemke, J R, Møller, R S & Baulac, S 2019, ' Erratum : Correction: The landscape of epilepsy-related GATOR1 variants (Genetics in medicine : official journal of the American College of Medical Genetics (2019) 21 2 (398-408)) ', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 21, no. 8, pp. 1896 . https://doi.org/10.1038/s41436-018-0325-9
Tytuł :
The landscape of epilepsy-related GATOR1 variants
Autorzy :
Baldassari, Sara
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, Caroline
Leguern, Eric
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, Douglas R
Lindstrom, Kristin
Striano, Pasquale
Lomax, Lysa Boissé
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.
Weckhuysen, Sarah
Poduri, Annapurna
Lemke, Johannes R.
Møller, Rikke S.
Baulac, Stéphanie
Pokaż więcej
Temat :
Epilepsy
Seizures/complications
INDEL Mutation
Infant, Newborn
Brugada Syndrome/genetics
ddc:616.8
Infant
Research Support, Non-U.S. Gov't
DEPDC5
GTPase-Activating Proteins/genetics
Epilepsy/complications
Tumor Suppressor Proteins
Loss of Function Mutation
Genetic focal epilepsy
Brugada Syndrome
Seizures
Multiprotein Complexes
Female
GTPase-Activating Proteins
Child, Preschool
Repressor Proteins
INDEL Mutation/genetics
Signal Transduction
SUDEP
Signal Transduction/genetics
mTORC1 pathway
Loss of Function Mutation/genetics
Multiprotein Complexes/genetics
Tumor Suppressor Proteins/genetics
DNA Copy Number Variations/genetics
[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics
Article
Pedigree
Focal cortical dysplasia
Mechanistic Target of Rapamycin Complex 1
Repressor Proteins/genetics
DNA Copy Number Variations
Adolescent
Journal Article
Genetic Predisposition to Disease
Mechanistic Target of Rapamycin Complex 1/genetics
Humans
Human medicine
Male
Child
Źródło :
Genetics in Medicine, Nature Publishing Group, 2019, 21 (2), pp.398-408. ⟨10.1038/s41436-018-0060-2⟩
Genetics in Medicine (2018)
Genetics in medicine : official journal of the American College of Medical Genetics
Baldassari, S, Picard, F, Verbeek, N E, van Kempen, M, Brilstra, E H, Lesca, G, Conti, V, Guerrini, R, Bisulli, F, Licchetta, L, Pippucci, T, Tinuper, P, Hirsch, E, de Saint Martin, A, Chelly, J, Rudolf, G, Chipaux, M, Ferrand-Sorbets, S, Dorfmüller, G, Sisodiya, S, Balestrini, S, Schoeler, N, Hernandez-Hernandez, L, Krithika, S, Oegema, R, Hagebeuk, E, Gunning, B, Deckers, C, Berghuis, B, Wegner, I, Niks, E, Jansen, F E, Braun, K, de Jong, D, Rubboli, G, Talvik, I, Sander, V, Uldall, P, Jacquemont, M-L, Nava, C, Leguern, E, Julia, S, Gambardella, A, d'Orsi, G, Crichiutti, G, Faivre, L, Darmency, V, Benova, B, Krsek, P, Biraben, A, Lebre, A-S, Jennesson, M, Sattar, S, Marchal, C, Nordli, D R, Lindstrom, K, Striano, P, Lomax, L B, Kiss, C, Bartolomei, F, Lepine, A F, Schoonjans, A-S, Stouffs, K, Jansen, A, Panagiotakaki, E, Ricard-Mousnier, B, Thevenon, J, de Bellescize, J, Catenoix, H, Dorn, T, Zenker, M, Müller-Schlüter, K, Brandt, C, Krey, I, Polster, T, Wolff, M, Balci, M, Rostasy, K, Achaz, G, Zacher, P, Becher, T, Cloppenborg, T, Yuskaitis, C J, Weckhuysen, S, Poduri, A, Lemke, J R, Møller, R S & Baulac, S 2019, ' The landscape of epilepsy-related GATOR1 variants ', Genetics In Medicine, vol. 21, no. 2, pp. 398-408 . https://doi.org/10.1038/s41436-018-0060-2
Baldassari, S, Picard, F, Verbeek, N E, van Kempen, M, Brilstra, E H, Lesca, G, Conti, V, Guerrini, R, Bisulli, F, Licchetta, L, Pippucci, T, Tinuper, P, Hirsch, E, de Saint Martin, A, Chelly, J, Rudolf, G, Chipaux, M, Ferrand-Sorbets, S, Dorfmüller, G, Sisodiya, S, Balestrini, S, Schoeler, N, Hernandez-Hernandez, L, Krithika, S, Oegema, R, Hagebeuk, E, Gunning, B, Deckers, C, Berghuis, B, Wegner, I, Niks, E, Jansen, F E, Braun, K, de Jong, D, Rubboli, G, Talvik, I, Sander, V, Uldall, P, Jacquemont, M L, Nava, C, Leguern, E, Julia, S, Gambardella, A, d’Orsi, G, Crichiutti, G, Faivre, L, Darmency, V, Benova, B, Krsek, P, Biraben, A, Lebre, A S, Jennesson, M, Sattar, S, Marchal, C, Nordli, D R, Lindstrom, K, Striano, P, Lomax, L B, Kiss, C, Bartolomei, F, Lepine, A F, Schoonjans, A S, Stouffs, K, Jansen, A, Panagiotakaki, E, Ricard-Mousnier, B, Thevenon, J, de Bellescize, J, Catenoix, H, Dorn, T, Zenker, M, Müller-Schlüter, K, Brandt, C, Krey, I, Polster, T, Wolff, M, Balci, M, Rostasy, K, Achaz, G, Zacher, P, Becher, T, Cloppenborg, T, Yuskaitis, C J, Weckhuysen, S, Poduri, A, Lemke, J R, Møller, R S & Baulac, S 2019, ' The landscape of epilepsy-related GATOR1 variants ', Genetics in Medicine, vol. 21, no. 2, pp. 398-408 . https://doi.org/10.1038/s41436-018-0060-2
Opis pliku :
application/pdf; pdf; STAMPA
Tytuł :
GRIN2A-related disorders:genotype and functional consequence predict phenotype
Autorzy :
Strehlow, Vincent
Heyne, Henrike O
Vlaskamp, Danique R M
Marwick, Katie F M
Rudolf, Gabrielle
de Bellescize, Julitta
Biskup, Saskia
Brilstra, Eva H
Brouwer, Oebele F
Callenbach, Petra M C
Hentschel, Julia
Hirsch, Edouard
Kind, Peter C
Mignot, Cyril
Platzer, Konrad
Rump, Patrick
Skehel, Paul A
Wyllie, David J A
Hardingham, Giles E
van Ravenswaaij-Arts, Conny M A
Lesca, Gaetan
Lemke, Johannes R
Møller, Rikke S
Pokaż więcej
Źródło :
Strehlow, V, Heyne, H O, Vlaskamp, D R M, Marwick, K F M, Rudolf, G, de Bellescize, J, Biskup, S, Brilstra, E H, Brouwer, O F, Callenbach, P M C, Hentschel, J, Hirsch, E, Kind, P C, Mignot, C, Platzer, K, Rump, P, Skehel, P A, Wyllie, D J A, Hardingham, G E, van Ravenswaaij-Arts, C M A, Lesca, G, Lemke, J R & GRIN2A study group 2019, ' GRIN2A-related disorders : genotype and functional consequence predict phenotype ', Brain, vol. 142, no. 1, pp. 80-92 . https://doi.org/10.1093/brain/awy304
Opis pliku :
application/pdf
Tytuł :
GRIN2A-related disorders:genotype and functional consequence predict phenotype
Autorzy :
Strehlow, Vincent
Heyne, Henrike O
Vlaskamp, Danique R M
Marwick, Katie F M
Rudolf, Gabrielle
de Bellescize, Julitta
Biskup, Saskia
Brilstra, Eva H
Brouwer, Oebele F
Callenbach, Petra M C
Hentschel, Julia
Hirsch, Edouard
Kind, Peter C
Mignot, Cyril
Platzer, Konrad
Rump, Patrick
Skehel, Paul A
Wyllie, David J A
Hardingham, Giles E
van Ravenswaaij-Arts, Conny M A
Lesca, Gaetan
Lemke, Johannes R
Pokaż więcej
Temat :
molecular genetics
channelopathy
Original Articles
learning disability
childhood epilepsy
spike-wave EEG
Human medicine
Editor's Choice
Źródło :
2019, ' GRIN2A-related disorders : genotype and functional consequence predict phenotype ' vol. 142, no. 1 . DOI: 10.1093/brain/awy304
Strehlow, V, Heyne, H O, Vlaskamp, D R M, Marwick, K F M, Rudolf, G, de Bellescize, J, Biskup, S, Brilstra, E H, Brouwer, O F, Callenbach, P M C, Hentschel, J, Hirsch, E, Kind, P C, Mignot, C, Platzer, K, Rump, P, Skehel, P A, Wyllie, D J A, Hardingham, G E, van Ravenswaaij-Arts, C M A & Lesca, G & Lemke, J R 2019, ' GRIN2A-related disorders : genotype and functional consequence predict phenotype ', Brain, vol. 142, no. 1, pp. 80–92 . https://doi.org/10.1093/brain/awy304
Opis pliku :
pdf; application/pdf
Tytuł :
Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia
Autorzy :
Guissart, Claire
Latypova, Xenia
Rollier, Paul
Khan, Tahir
Stamberger, Hannah
McWalter, Kirsty
Cho, Megan
Kjaergaard, Susanne
Weckhuysen, Sarah
Lesca, Gaetan
Besnard, Thomas
Ounap, Katrin
Schema, Lynn
Chiocchetti, Andreas
McDonald, Marie
De Bellescize, Julitta
Vincent, Marie
Van Esch, Hilde
Sattler, Shannon
Forghani, Irman
Thiffault, Isabelle
Freitag, Christine
Barbouth, Deborah Sara
Cadieux-Dion, Maxime
Willaert, Rebecca
Guillen Sacoto, Maria
Safina, Nicole
Dubourg, Christèle
Grote, Lauren
Carré, Wilfrid
Saunders, Carol
Pajusalu, Sander
Farrow, Emily
Boland, Anne
Karlowicz, Danielle Hays
Deleuze, Jean-François
Wojcik, Monica
Pressman, Rena
Isidor, Bertrand
Vogels, Annick
Van Paesschen, Wim
Al-Gazali, Lihadh
Al Shamsi, Aisha Mohamed
Claustres, Mireille
Pujol, Aurora
Sanders, Stephan
Rivier, Francois
Leboucq, Nicolas
Cogné, Benjamin
Sasorith, Souphatta
Sanlaville, Damien
Retterer, Kyle
Odent, Sylvie
Katsanis, Nicholas
Bézieau, Stephane
Koenig, Michel
Davis, Erica
Pasquier, Laurent
Küry, Sébastien
Pokaż więcej
Temat :
cerebellar ataxia
neurodevelopmental disorder
dual molecular effects
epilepsy
RORA
intellectual disability
autistic features
[SDV]Life Sciences [q-bio]
[SDV.GEN]Life Sciences [q-bio]/Genetics
Źródło :
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2018, 102 (5), pp.744 - 759. ⟨10.1016/j.ajhg.2018.02.021⟩

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