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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
Pokaż więcej
Źródło :
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 23(9):1715-1725
Czasopismo naukowe
Tytuł :
Mutations disrupting neuritogenesis genes confer risk for cerebral palsy
Autorzy :
Jin, Sheng ChihAff1, Aff2, Aff3
Lewis, Sara A.Aff4, Aff5
Bakhtiari, SomayehAff4, Aff5
Zeng, XueAff1, Aff2
Sierant, Michael C.Aff1, Aff2
Shetty, SheetalAff4, Aff5
Nordlie, Sandra M.Aff4, Aff5
Elie, AurelianeAff4, Aff5
Corbett, Mark A.
Norton, Bethany Y.Aff4, Aff5
van Eyk, Clare L.
Haider, Shozeb
Guida, Brandon S.Aff4, Aff5
Magee, HelenAff4, Aff5
Liu, JamesAff4, Aff5
Pastore, Stephen
Vincent, John B.
Brunstrom-Hernandez, Janice
Papavasileiou, Antigone
Fahey, Michael C.
Berry, Jesia G.
Harper, Kelly
Zhou, Chongchen
Zhang, Junhui
Li, Boyang
Zhao, Hongyu
Heim, Jennifer
Webber, Dani L.
Frank, Mahalia S. B.
Xia, Lei
Xu, Yiran
Zhu, Dengna
Zhang, Bohao
Sheth, Amar H.
Knight, James R.
Castaldi, Christopher
Tikhonova, Irina R.
López-Giráldez, Francesc
Keren, Boris
Whalen, Sandra
Buratti, Julien
Doummar, Diane
Cho, Megan
Retterer, Kyle
Millan, Francisca
Wang, Yangong
Waugh, Jeff L.
Rodan, Lance
Cohen, Julie S.
Fatemi, Ali
Lin, Angela E.
Phillips, John P.
Feyma, Timothy
MacLennan, Suzanna C.
Vaughan, Spencer
Crompton, Kylie E.
Reid, Susan M.
Reddihough, Dinah S.
Shang, Qing
Gao, Chao
Novak, Iona
Badawi, Nadia
Wilson, Yana A.
McIntyre, Sarah J.
Mane, Shrikant M.
Wang, XiaoyangAff14, Aff32
Amor, David J.
Zarnescu, Daniela C.
Lu, Qiongshi
Xing, Qinghe
Zhu, ChanglianAff14, Aff32
Bilguvar, KayaAff1, Aff15
Padilla-Lopez, SergioAff4, Aff5
Lifton, Richard P.Aff1, Aff2
Gecz, Jozef
MacLennan, Alastair H.
Kruer, Michael C.Aff4, Aff5
Pokaż więcej
Źródło :
Nature Genetics. 52(10):1046-1056
Czasopismo naukowe
Tytuł :
Author Correction: Mutations disrupting neuritogenesis genes confer risk for cerebral palsy
Autorzy :
Jin, Sheng ChihAff1, Aff2, Aff3
Lewis, Sara A.Aff4, Aff5
Bakhtiari, SomayehAff4, Aff5
Zeng, XueAff1, Aff2
Sierant, Michael C.Aff1, Aff2
Shetty, SheetalAff4, Aff5
Nordlie, Sandra M.Aff4, Aff5
Elie, AurelianeAff4, Aff5
Corbett, Mark A.
Norton, Bethany Y.Aff4, Aff5
van Eyk, Clare L.
Haider, Shozeb
Guida, Brandon S.Aff4, Aff5
Magee, HelenAff4, Aff5
Liu, JamesAff4, Aff5
Pastore, Stephen
Vincent, John B.
Brunstrom-Hernandez, Janice
Papavasileiou, Antigone
Fahey, Michael C.
Berry, Jesia G.
Harper, Kelly
Zhou, Chongchen
Zhang, Junhui
Li, Boyang
Zhao, Hongyu
Heim, Jennifer
Webber, Dani L.
Frank, Mahalia S. B.
Xia, Lei
Xu, Yiran
Zhu, Dengna
Zhang, Bohao
Sheth, Amar H.
Knight, James R.
Castaldi, Christopher
Tikhonova, Irina R.
López-Giráldez, Francesc
Keren, Boris
Whalen, Sandra
Buratti, Julien
Doummar, Diane
Cho, Megan
Retterer, Kyle
Millan, Francisca
Wang, Yangong
Waugh, Jeff L.
Rodan, Lance
Cohen, Julie S.
Fatemi, Ali
Lin, Angela E.
Phillips, John P.
Feyma, Timothy
MacLennan, Suzanna C.
Vaughan, Spencer
Crompton, Kylie E.
Reid, Susan M.
Reddihough, Dinah S.
Shang, Qing
Gao, Chao
Novak, Iona
Badawi, Nadia
Wilson, Yana A.
McIntyre, Sarah J.
Mane, Shrikant M.
Wang, XiaoyangAff14, Aff32
Amor, David J.
Zarnescu, Daniela C.
Lu, Qiongshi
Xing, Qinghe
Zhu, ChanglianAff14, Aff32
Bilguvar, KayaAff1, Aff15
Padilla-Lopez, SergioAff4, Aff5
Lifton, Richard P.Aff1, Aff2
Gecz, Jozef
MacLennan, Alastair H.
Kruer, Michael C.Aff4, Aff5
Pokaż więcej
Źródło :
Nature Genetics. 53(3):412-412
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 :
Both rare and common genetic variants contribute to autism in the Faroe Islands
Autorzy :
Leblond, Claire SAff1, Aff2, Aff3, Aff4
Cliquet, FreddyAff1, Aff2, Aff3, Aff4
Carton, CoralieAff1, Aff2, Aff3, Aff4
Huguet, GuillaumeAff1, Aff2, Aff3, Aff4
Mathieu, AlexandreAff1, Aff2, Aff3, Aff4
Kergrohen, ThomasAff1, Aff2, Aff3, Aff4
Buratti, JulienAff1, Aff2, Aff3, Aff4
Lemière, NathalieAff1, Aff2, Aff3, Aff4
Cuisset, Laurence
Bienvenu, ThierryAff5, Aff6
Boland, Anne
Deleuze, Jean-François
Stora, Tormodur
Biskupstoe, Rannva
Halling, Jónrit
Andorsdóttir, Guðrið
Billstedt, Eva
Gillberg, ChristopherAff1, Aff8, Aff11, Aff12
Bourgeron, ThomasAff1, Aff2, Aff3, Aff4, Aff11
Pokaż więcej
Źródło :
npj Genomic Medicine. 4(1)
Czasopismo naukowe
Tytuł :
Association of modifiers and other genetic factors explain Marfan syndrome clinical variability
Autorzy :
Aubart, MelodieAff1, Aff2
Gazal, StevenAff3, Aff4
Arnaud, PaulineAff1, Aff5
Benarroch, Louise
Gross, Marie-Sylvie
Buratti, JulienAff6, Aff7
Boland, Anne
Meyer, Vincent
Zouali, Habib
Hanna, Nadine
Milleron, Olivier
Stheneur, Chantal
Bourgeron, ThomasAff6, Aff7, Aff10
Desguerre, IsabelleAff2, Aff11
Jacob, Marie-Paule
Gouya, LaurentAff10, Aff12
Génin, Emmanuelle
Deleuze, Jean-François
Jondeau, GuillaumeAff1, Aff9, Aff10
Boileau, CatherineAff1, Aff5, Aff10
Pokaż więcej
Źródło :
European Journal of Human Genetics. 26(12):1759-1772
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 :
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
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 :
Correction: 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(8):1897-1898
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

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