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Wyszukujesz frazę ""Isidor, Bertrand"" wg kryterium: Autor


Tytuł :
DLG4-related synaptopathy: a new rare brain disorder
Autorzy :
Rodríguez-Palmero, AgustíAff1, Aff2
Boerrigter, Melissa MariaAff3, Aff4
Gómez-Andrés, David
Aldinger, Kimberly A.
Marcos-Alcalde, ÍñigoAff7, Aff8
Popp, BerntAff9, Aff10
Everman, David B.
Lovgren, Alysia Kern
Arpin, Stephanie
Bahrambeigi, VahidAff11, Aff14
Beunders, Gea
Bisgaard, Anne-Marie
Bjerregaard, V. A.
Bruel, Ange-Line
Challman, Thomas D.
Cogné, BenjaminAff19, Aff20
Coubes, Christine
de Man, Stella A.
Denommé-Pichon, Anne-Sophie
Dye, Thomas J.Aff23, Aff24
Elmslie, Frances
Feuk, Lars
García-Miñaúr, Sixto
Gertler, Tracy
Giorgio, Elisa
Gruchy, Nicolas
Haack, Tobias B.
Haldeman-Englert, Chad R.
Haukanes, Bjørn Ivar
Hoyer, Juliane
Hurst, Anna C. E.
Isidor, BertrandAff19, Aff20
Soller, Maria JohanssonAff35, Aff36
Kushary, Sulagna
Kvarnung, MalinAff35, Aff36
Landau, Yuval E.Aff38, Aff39, Aff40
Leppig, Kathleen A.
Lindstrand, AnnaAff35, Aff36
Kleinendorst, Lotte
MacKenzie, Alex
Mandrile, Giorgia
Mendelsohn, Bryce A.
Moghadasi, Setareh
Morton, Jenny E.
Moutton, SebastienAff17, Aff48
Müller, Amelie J.
O’Leary, Melanie
Pacio-Míguez, Marta
Palomares-Bralo, Maria
Parikh, Sumit
Pfundt, Rolph
Pode-Shakked, BenAff40, Aff51, Aff52, Aff53
Rauch, Anita
Repnikova, Elena
Revah-Politi, AnyaAff36, Aff56
Ross, Meredith J.
Ruivenkamp, Claudia A. L.
Sarrazin, Elisabeth
Savatt, Juliann M.
Schlüter, Agatha
Schönewolf-Greulich, Bitten
Shad, Zohra
Shaw-Smith, Charles
Shieh, Joseph T.
Shohat, Motti
Spranger, Stephanie
Thiese, Heidi
Mau-Them, Frederic Tran
van Bon, Bregje
van de Burgt, Ineke
van de Laar, Ingrid M. B. H.
van Drie, Esmée
van Haelst, Mieke M.
van Ravenswaaij-Arts, Conny M.
Verdura, Edgard
Vitobello, Antonio
Waldmüller, Stephan
Whiting, Sharon
Zweier, Christiane
Prada, Carlos E.Aff24, Aff65
de Vries, Bert B. A.
Dobyns, William B.Aff6, Aff66, Aff67
Reiter, Simone F.
Gómez-Puertas, Paulino
Pujol, AuroraAff1, Aff68
Tümer, ZeynepAff3, Aff69
Pokaż więcej
Źródło :
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 23(5):888-899
Czasopismo naukowe
Tytuł :
Touch and olfaction/taste differentiate children carrying a 16p11.2 deletion from children with ASD
Autorzy :
Osório, Joana Maria Almeida
Rodríguez-Herreros, Borja
Romascano, David
Junod, Vincent
Habegger, Aline
Pain, Aurélie
Richetin, Sonia
Yu, PaolaAff1, Aff2
Isidor, Bertrand
Van Maldergem, LionelAff4, Aff5, Aff6
Pons, Linda
Manificat, Sabine
Chabane, Nadia
Jequier Gygax, Marine
Maillard, Anne Manuela
Pokaż więcej
Źródło :
Molecular Autism. 12(1)
Czasopismo naukowe
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 :
Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm
Autorzy :
Elbitar, SandyAff1, Aff2
Renard, Marjolijn
Arnaud, PaulineAff1, Aff4, Aff5
Hanna, NadineAff1, Aff4, Aff5
Jacob, Marie-Paule
Guo, Dong-Chuan
Tsutsui, Ko
Gross, Marie-Sylvie
Kessler, Ketty
Tosolini, Laurent
Dattilo, Vincenzo
Dupont, Sebastien
Jonquet, Jeremie
Langeois, Maud
Benarroch, LouiseAff1, Aff10
Aubart, MelodieAff1, Aff11
Ghaleb, YoumnaAff1, Aff2
Abou Khalil, YaraAff1, Aff2
Varret, Mathilde
El Khoury, PetraAff1, Aff2
Ho-Tin-Noé, Benoit
Alembik, Yves
Gaertner, Sébastien
Isidor, Bertrand
Gouya, Laurent
Milleron, Olivier
Sekiguchi, Kiyotoshi
Milewicz, Dianna
De Backer, Julie
Le Goff, Carine
Michel, Jean-Baptiste
Jondeau, GuillaumeAff1, Aff5
Sakai, Lynn Y.
Boileau, CatherineAff1, Aff4, Aff5
Abifadel, MarianneAff1, Aff2
Pokaż więcej
Źródło :
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 23(1):111-122
Czasopismo naukowe
Tytuł :
Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1
Autorzy :
Lenz, Dominic
Smith, Desirée E. C.
Crushell, Ellen
Husain, Ralf A.
Salomons, Gajja S.
Alhaddad, Bader
Bernstein, Jonathan A.Aff6, Aff7
Bianzano, Alyssa
Biskup, SaskiaAff8, Aff9
Brennenstuhl, Heiko
Caldari, Dominique
Dikow, Nicola
Haack, Tobias B.Aff12, Aff13
Hanson-Kahn, AndreaAff14, Aff15
Harting, Inga
Horn, Denise
Hughes, Joanne
Huijberts, Maya
Isidor, BertrandAff19, Aff20
Kathemann, Simone
Kopajtich, RobertAff5, Aff22
Kotzaeridou, Urania
Küry, SébastienAff19, Aff20
Lainka, Elke
Laugwitz, LuciaAff12, Aff23
Lupski, James R.Aff24, Aff25, Aff26
Posey, Jennifer E.
Reynolds, Claire
Rosenfeld, Jill A.Aff24, Aff27
Schröter, Julian
Vansenne, Fleur
Wagner, MatiasAff5, Aff22, Aff29
Weiß, Claudia
Wolffenbuttel, Bruce H. R.
Wortmann, Saskia B.Aff5, Aff22, Aff31
Kölker, Stefan
Hoffmann, Georg F.
Prokisch, HolgerAff5, Aff22
Mendes, Marisa I.
Staufner, Christian
Pokaż więcej
Źródło :
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 22(11):1863-1873
Czasopismo naukowe
Tytuł :
A dominant vimentin variant causes a rare syndrome with premature aging
Autorzy :
Cogné, BenjaminAff1, Aff2
Bouameur, Jamal-Eddine
Hayot, GaëlleAff4, Aff5, Aff6, Aff7
Latypova, XeniaAff1, Aff2
Pattabiraman, Sundararaghavan
Caillaud, Amandine
Si-Tayeb, Karim
Besnard, ThomasAff1, Aff2
Küry, SébastienAff1, Aff2
Chariau, Caroline
Gaignerie, Anne
David, LaurentAff9, Aff10
Bordure, Philippe
Kaganovich, DanielAff8, Aff12
Bézieau, StéphaneAff1, Aff2
Golzio, ChristelleAff4, Aff5, Aff6, Aff7
Magin, Thomas M.
Isidor, BertrandAff1, Aff2
Pokaż więcej
Źródło :
European Journal of Human Genetics. 28(9):1218-1230
Czasopismo naukowe
Tytuł :
Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients
Autorzy :
Sekiguchi, Futoshi
Tsurusaki, YoshinoriAff1, Aff2
Okamoto, Nobuhiko
Teik, Keng Wee
Mizuno, Seiji
Suzumura, Hiroshi
Isidor, Bertrand
Ong, Winnie Peitee
Haniffa, Muzhirah
White, Susan M.Aff8, Aff9
Matsuo, Mari
Saito, Kayoko
Phadke, Shubha
Kosho, Tomoki
Yap, PatrickAff13, Aff14
Goyal, Manisha
Clarke, Lorne A.
Sachdev, Rani
McGillivray, George
Leventer, Richard J.
Patel, Chirag
Yamagata, Takanori
Osaka, Hitoshi
Hisaeda, Yoshiya
Ohashi, Hirofumi
Shimizu, Kenji
Nagasaki, Keisuke
Hamada, Junpei
Dateki, Sumito
Sato, Takashi
Chinen, Yasutsugu
Awaya, TomonariAff28, Aff29
Kato, Takeo
Iwanaga, Kougoro
Kawai, Masahiko
Matsuoka, Takashi
Shimoji, Yoshikazu
Tan, Tiong YangAff8, Aff9
Kapoor, Seema
Gregersen, Nerine
Rossi, Massimiliano
Marie-Laure, Mathieu
McGregor, Lesley
Oishi, Kimihiko
Mehta, Lakshmi
Gillies, Greta
Lockhart, Paul J.
Pope, Kate
Shukla, Anju
Girisha, Katta Mohan
Abdel-Salam, Ghada M. H.
Mowat, David
Coman, David
Kim, Ok Hwa
Cordier, Marie-Pierre
Gibson, Kate
Milunsky, Jeff
Liebelt, Jan
Cox, Helen
El Chehadeh, Salima
Toutain, Annick
Saida, Ken
Aoi, HiromiAff1, Aff48
Minase, Gaku
Tsuchida, Naomi
Iwama, Kazuhiro
Uchiyama, YuriAff1, Aff49, Aff50
Suzuki, ToshifumiAff1, Aff48
Hamanaka, Kohei
Azuma, Yoshiteru
Fujita, Atsushi
Imagawa, EriAff1, Aff34
Koshimizu, Eriko
Takata, Atsushi
Mitsuhashi, Satomi
Miyatake, SatokoAff1, Aff50
Mizuguchi, Takeshi
Miyake, Noriko
Matsumoto, Naomichi
Pokaż więcej
Źródło :
Journal of Human Genetics. 64(12):1173-1186
Czasopismo naukowe
Tytuł :
Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect
Autorzy :
Nizon, MathildeAff1, Aff2
Laugel, Vincent
Flanigan, Kevin M.
Pastore, Matthew
Waldrop, Megan A.
Rosenfeld, Jill A.
Marom, Ronit
Xiao, Rui
Gerard, Amanda
Pichon, Olivier
Le Caignec, Cédric
Gérard, Marion
Dieterich, Klaus
Truitt Cho, Megan
McWalter, Kirsty
Hiatt, Susan
Thompson, Michelle L.
Bézieau, StéphaneAff1, Aff2
Wadley, Alexandrea
Wierenga, Klaas J.
Egly, Jean-Marc
Isidor, BertrandAff1, Aff2
Pokaż więcej
Źródło :
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 21(12):2713-2722
Czasopismo naukowe

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