Informacja

Drogi użytkowniku, aplikacja do prawidłowego działania wymaga obsługi JavaScript. Proszę włącz obsługę JavaScript w Twojej przeglądarce.

Przeglądasz jako GOŚĆ

Wyszukujesz frazę ""Pfundt, Rolph"" wg kryterium: Autor


Tytuł :
Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype
Autorzy :
Zanoni, Paolo
Steindl, Katharina
Sengupta, Deepanwita
Joset, Pascal
Bahr, Angela
Sticht, Heinrich
Lang-Muritano, MariarosariaAff4, Aff5
van Ravenswaaij-Arts, Conny M. A.
Shinawi, Marwan
Andrews, Marisa
Attie-Bitach, TaniaAff8, Aff9
Maystadt, IsabelleAff10, Aff11
Belnap, NewellAff12, Aff13
Benoit, ValerieAff10, Aff14
Delplancq, GeoffroyAff15, Aff16
de Vries, Bert B. A.
Grotto, Sarah
Lacombe, Didier
Larson, Austin
Mourmans, Jeroen
Õunap, KatrinAff22, Aff23
Petrilli, Giulia
Pfundt, Rolph
Ramsey, KeriAff12, Aff13
Blok, Lot Snijders
Tsatsaris, Vassilis
Vitobello, Antonio
Faivre, Laurence
Wheeler, Patricia G.
Wevers, Marijke R.
Wojcik, MonicaAff27, Aff28
Zweier, Markus
Gozani, Or
Rauch, AnitaAff1, Aff29, Aff30
Pokaż więcej
Źródło :
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 23(8):1474-1483
Czasopismo naukowe
Tytuł :
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior
Autorzy :
Harris, Holly K.Aff1, Aff2
Nakayama, TojoAff3, Aff4
Lai, JennyAff3, Aff5
Zhao, BoxunAff3, Aff4
Argyrou, NikoletaAff3, Aff4
Gubbels, Cynthia S.Aff3, Aff4
Soucy, AubrieAff3, Aff4
Genetti, Casie A.Aff3, Aff4
Suslovitch, VictoriaAff3, Aff4
Rodan, Lance H.Aff3, Aff4, Aff6
Tiller, George E.
Lesca, Gaetan
Gripp, Karen W.
Asadollahi, Reza
Hamosh, Ada
Applegate, Carolyn D.
Turnpenny, Peter D.
Simon, Marleen E. H.
Volker-Touw, Catharina M. L.
Gassen, Koen L. I. van
Binsbergen, Ellen van
Pfundt, Rolph
Gardeitchik, Thatjana
Vries, Bert B. A. de
Immken, LaDonna L.
Buchanan, Catherine
Willing, Marcia
Toler, Tomi L.
Fassi, Emily
Baker, Laura
Vansenne, Fleur
Wang, Xiadong
Ambrus, Jr., Julian L.
Fannemel, Madeleine
Posey, Jennifer E.
Agolini, Emanuele
Novelli, Antonio
Rauch, Anita
Boonsawat, Paranchai
Fagerberg, Christina R.
Larsen, Martin J.
Kibaek, Maria
Labalme, Audrey
Poisson, Alice
Payne, Katelyn K.
Walsh, Laurence E.Aff24, Aff25
Aldinger, Kimberly A.
Balciuniene, Jorune
Skraban, Cara
Gray, Christopher
Murrell, Jill
Bupp, Caleb P.
Pascolini, Giulia
Grammatico, Paola
Broly, Martin
Küry, Sébastien
Nizon, Mathilde
Rasool, Iqra GhulamAff31, Aff32
Zahoor, Muhammad Yasir
Kraus, Cornelia
Reis, André
Iqbal, Muhammad
Uguen, KevinAff34, Aff35
Audebert-Bellanger, Severine
Ferec, ClaudeAff34, Aff35
Redon, SylviaAff34, Aff35
Baker, Janice
Wu, Yunhong
Zampino, Guiseppe
Syrbe, Steffan
Brosse, Ines
Jamra, Rami Abou
Dobyns, William B.
Cohen, Lilian L.
Blomhoff, Anne
Mignot, CyrilAff43, Aff44
Keren, Boris
Courtin, Thomas
Agrawal, Pankaj B.Aff3, Aff4
Beggs, Alan H.Aff3, Aff4
Yu, Timothy W.Aff3, Aff4, Aff5
Pokaż więcej
Źródło :
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 23(6):1028-1040
Czasopismo naukowe
Tytuł :
Haploinsufficiency of the HIRA gene located in the 22q11 deletion syndrome region is associated with abnormal neurodevelopment and impaired dendritic outgrowth
Autorzy :
Jeanne, MédéricAff1, Aff2
Vuillaume, Marie-LaureAff1, Aff2
Ung, Dévina C.
Vancollie, Valerie E.
Wagner, ChristelAff4, Aff5, Aff6
Collins, Stephan C.Aff4, Aff5, Aff6
Vonwill, Sandrine
Haye, Damien
Chelloug, Nora
Pfundt, Rolph
Kummeling, Joost
Moizard, Marie-Pierre
Marouillat, Sylviane
Kleefstra, Tjitske
Yalcin, BinnazAff4, Aff5, Aff6
Laumonnier, FrédéricAff1, Aff2
Toutain, AnnickAff1, Aff2
Pokaż więcej
Źródło :
Human Genetics. 140(6):885-896
Czasopismo naukowe
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 :
De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy
Autorzy :
Nabais Sá, Maria J.
Venselaar, Hanka
Wiel, LaurensAff2, Aff3
Trimouille, AurélienAff4, Aff5
Lasseaux, Eulalie
Naudion, Sophie
Lacombe, DidierAff4, Aff5
Piton, AmélieAff6, Aff7
Vincent-Delorme, Catherine
Zweier, Christiane
Reis, André
Trollmann, Regina
Ruiz, Anna
Gabau, Elisabeth
Vetro, Annalisa
Guerrini, Renzo
Bakhtiari, Somayeh
Kruer, Michael C.
Amor, David J.Aff15, Aff16
Cooper, Monica S.Aff15, Aff17
Bijlsma, Emilia K.
Barakat, Tahsin Stefan
van Dooren, Marieke F.
van Slegtenhorst, Marjon
Pfundt, Rolph
Gilissen, Christian
Willemsen, Michèl A.
de Vries, Bert B. A.
de Brouwer, Arjan P. M.
Koolen, David A.
Pokaż więcej
Źródło :
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 22(4):797-802
Czasopismo naukowe
Tytuł :
Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy
Autorzy :
Hengel, HolgerAff1, Aff2
Bosso-Lefèvre, CéliaAff3, Aff4
Grady, George
Szenker-Ravi, Emmanuelle
Li, Hankun
Pierce, Sarah
Lebigot, Élise
Tan, Thong-Teck
Eio, Michelle Y.
Narayanan, Gunaseelan
Utami, Kagistia Hana
Yau, Monica
Handal, Nader
Deigendesch, Werner
Keimer, Reinhard
Marzouqa, Hiyam M.
Gunay-Aygun, Meral
Muriello, Michael J.
Verhelst, Helene
Weckhuysen, SarahAff16, Aff17, Aff18
Mahida, Sonal
Naidu, Sakkubai
Thomas, Terrence G.
Lim, Jiin YingAff21, Aff22, Aff23
Tan, Ee ShienAff21, Aff22, Aff23
Haye, Damien
Willemsen, Michèl A. A. P.
Oegema, Renske
Mitchell, Wendy G.
Pierson, Tyler Mark
Andrews, Marisa V.
Willing, Marcia C.
Rodan, Lance H.
Barakat, Tahsin Stefan
van Slegtenhorst, Marjon
Gavrilova, Ralitza H.
Martinelli, Diego
Gilboa, Tal
Tamim, Abdullah M.
Hashem, Mais O.
AlSayed, Moeenaldeen D.
Abdulrahim, Maha M.
Al-Owain, Mohammed
Awaji, Ali
Mahmoud, Adel A. H.
Faqeih, Eissa A.
Asmari, Ali Al
Algain, Sulwan M.
Jad, Lamyaa A.
Aldhalaan, Hesham M.
Helbig, Ingo
Koolen, David A.
Riess, Angelika
Kraegeloh-Mann, Ingeborg
Bauer, Peter
Gulsuner, Suleyman
Stamberger, HannahAff16, Aff17, Aff18
Ng, Alvin Yu Jin
Tang, Sha
Tohari, Sumanty
Keren, Boris
Schultz-Rogers, Laura E.
Klee, Eric W.
Barresi, Sabina
Tartaglia, Marco
Mor-Shaked, Hagar
Maddirevula, Sateesh
Begtrup, Amber
Telegrafi, Aida
Pfundt, Rolph
Schüle, RebeccaAff1, Aff2
Ciruna, Brian
Bonnard, Carine
Pouladi, Mahmoud A.Aff10, Aff52, Aff53
Stewart, James C.
Claridge-Chang, AdamAff47, Aff54
Lefeber, Dirk J.Aff55, Aff56
Alkuraya, Fowzan S.
Mathuru, Ajay S.Aff6, Aff47
Venkatesh, ByrappaAff4, Aff47
Barycki, Joseph J.
Simpson, Melanie A.
Jamuar, Saumya S.Aff21, Aff22, Aff23, Aff57
Schöls, LudgerAff1, Aff2
Reversade, BrunoAff3, Aff4, Aff47, Aff58, Aff59
Pokaż więcej
Źródło :
Nature Communications. 11(1)
Czasopismo naukowe
Tytuł :
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome
Autorzy :
van der Sluijs, Pleuntje J.
Jansen, Sandra
Vergano, Samantha A.
Adachi-Fukuda, Miho
Alanay, Yasemin
AlKindy, Adila
Baban, Anwar
Bayat, Allan
Beck-Wödl, Stefanie
Berry, Katherine
Bijlsma, Emilia K.
Bok, Levinus A.
Brouwer, Alwin F. J.
van der Burgt, Ineke
Campeau, Philippe M.
Canham, NatalieAff15, Aff16
Chrzanowska, Krystyna
Chu, Yoyo W. Y.
Chung, Brain H. Y.
Dahan, Karin
De Rademaeker, Marjan
Destree, Anne
Dudding-Byth, Tracy
Earl, Rachel
Elcioglu, Nursel
Elias, Ellen R.
Fagerberg, Christina
Gardham, Alice
Gener, Blanca
Gerkes, Erica H.
Grasshoff, Ute
van Haeringen, Arie
Heitink, Karin R.
Herkert, Johanna C.
den Hollander, Nicolette S.
Horn, Denise
Hunt, David
Kant, Sarina G.
Kato, Mitsuhiro
Kayserili, Hülya
Kersseboom, Rogier
Kilic, Esra
Krajewska-Walasek, Malgorzata
Lammers, Kylin
Laulund, Lone W.
Lederer, Damien
Lees, Melissa
López-González, Vanesa
Maas, Saskia
Mancini, Grazia M. S.
Marcelis, Carlo
Martinez, Francisco
Maystadt, Isabelle
McGuire, Marianne
McKee, Shane
Mehta, Sarju
Metcalfe, Kay
Milunsky, Jeff
Mizuno, Seiji
Moeschler, John B.
Netzer, Christian
Ockeloen, Charlotte W.
Oehl-Jaschkowitz, Barbara
Okamoto, Nobuhiko
Olminkhof, Sharon N. M.
Orellana, Carmen
Pasquier, Laurent
Pottinger, Caroline
Riehmer, Vera
Robertson, Stephen P.
Roifman, MaianAff55, Aff56
Rooryck, Caroline
Ropers, Fabienne G.
Rosello, Monica
Ruivenkamp, Claudia A. L.
Sagiroglu, Mahmut S.
Sallevelt, Suzanne C. E. H.
Sanchis Calvo, Amparo
Simsek-Kiper, Pelin O.
Soares, Gabriela
Solaeche, Lucia
Sonmez, Fatma Mujgan
Splitt, Miranda
Steenbeek, Duco
Stegmann, Alexander P. A.
Stumpel, Constance T. R. M.
Tanabe, Saori
Uctepe, Eyyup
Utine, G. Eda
Veenstra-Knol, Hermine E.
Venkateswaran, Sunita
Vilain, CathelineAff70, Aff71
Vincent-Delorme, Catherine
Vulto-van Silfhout, Anneke T.
Wheeler, Patricia
Wilson, Golder N.
Wilson, Louise C.
Wollnik, Bernd
Kosho, Tomoki
Wieczorek, Dagmar
Eichler, Evan
Pfundt, Rolph
de Vries, Bert B. A.
Clayton-Smith, Jill
Santen, Gijs W. E.
Pokaż więcej
Źródło :
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 21(6):1295-1307
Czasopismo naukowe

Ta witryna wykorzystuje pliki cookies do przechowywania informacji na Twoim komputerze. Pliki cookies stosujemy w celu świadczenia usług na najwyższym poziomie, w tym w sposób dostosowany do indywidualnych potrzeb. Korzystanie z witryny bez zmiany ustawień dotyczących cookies oznacza, że będą one zamieszczane w Twoim komputerze. W każdym momencie możesz dokonać zmiany ustawień dotyczących cookies