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Wyszukujesz frazę ""Anderlid, Britt-Marie"" wg kryterium: Autor


Tytuł:
Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders
Autorzy:
Zhao, SenAff1, Aff2
Zhang, YuanqiangAff1, Aff2, Aff3
Hallgrimsdottir, Sigrun
Zuo, YuzhiAff1, Aff2
Li, XiaoxinAff2, Aff5
Batkovskyte, Dominyka
Liu, SenAff1, Aff2
Lindelöf, HilleviAff6, Aff7
Wang, Shengru
Hammarsjö, AnnaAff6, Aff7
Yang, Yang
Ye, Yongyu
Wang, LianleiAff1, Aff2, Aff3
Yan, ZihuiAff1, Aff2
Lin, JiachenAff1, Aff2
Yu, ChenxiAff1, Aff2
Chen, ZefuAff1, Aff2
Niu, YuchenAff2, Aff5
Wang, HuiziAff2, Aff5
Zhao, ZhiAff2, Aff5
Liu, PengfeiAff9, Aff10
Qiu, GuixingAff1, Aff2, Aff5
Posey, Jennifer E.
Wu, ZhihongAff2, Aff5
Lupski, James R.Aff9, Aff11, Aff12, Aff13
Micule, Ieva
Anderlid, Britt-MarieAff6, Aff7
Voss, Ulrika
Sulander, Dennis
Kuchinskaya, Ekaterina
Nordgren, AnnAff6, Aff7
Nilsson, OlaAff4, Aff17
Zhang, Terry JianguoAff1, Aff2, Aff5, IDs4152502100273x_cor34
Grigelioniene, GiedreAff6, Aff7, IDs4152502100273x_cor35
Wu, NanAff1, Aff2, Aff5, Aff9, IDs4152502100273x_cor36
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Źródło:
npj Genomic Medicine. 7(1)
Czasopismo naukowe
Tytuł:
Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP
Autorzy:
Bakshi, Madhura
Wilson, Meredith
Berman, Yemina
Dickson, Rebecca
Fransen, Erik
Helsmoortel, Céline
Van den Ende, Jenneke
Van der Aa, Nathalie
van de Wijdeven, Marina J.
Rosenblum, Jessica
Monteiro, Fabíola
Kok, Fernando
Quercia, Nada
Bowdin, Sarah
Dyment, David
Chitayat, David
Alkhunaizi, Ebba
Boonen, Susanne E.
Keren, Boris
Jacquette, Aurelia
Faivre, Laurence
Bezieau, Stephane
Isidor, Bertrand
Rieß, Angelika
Moog, Ute
Lynch, Sally Ann
McVeigh, Terri
Elpeleg, Orly
Smeland, Marie Falkenberg
Fannemel, Madeleine
van Haeringen, Arie
Maas, Saskia M.
Veenstra-Knol, H.E.
Schouten, Meyke
Willemsen, Marjolein H.
Marcelis, Carlo L.
Ockeloen, Charlotte
van der Burgt, Ineke
Feenstra, Ilse
van der Smagt, Jasper
Jezela-Stanek, Aleksandra
Krajewska-Walasek, Malgorzata
González-Lamuño, Domingo
Anderlid, Britt-Marie
Malmgren, Helena
Nordenskjöld, Magnus
Clement, Emma
Hurst, Jane
Metcalfe, Kay
Mansour, Sahar
Lachlan, Katherine
Clayton-Smith, Jill
Hendon, Laura G.
Abdulrahman, Omar A.
Morrow, Eric
McMillan, Clare
Gerdts, Jennifer
Peeden, Joseph
Schrier Vergano, Samantha A.
Valentino, Caitlin
Chung, Wendy K.
Ozmore, Jillian R.
Bedrosian-Sermone, Sandra
Dennis, Anna
Treat, Kayla
Hughes, Susan Starling
Safina, Nicole
Le Pichon, Jean-Baptiste
McGuire, Marianne
Infante, Elena
Madan-Khetarpal, Suneeta
Desai, Sonal
Benke, Paul
Krokosky, Alyson
Cristian, Ingrid
Baker, Laura
Gripp, Karen
Stessman, Holly A.
Eichenberger, Jacob
Jayakar, Parul
Pizzino, Amy
Manning, Melanie Ann
Slattery, Leah
Van Dijck, Anke
Vulto-van Silfhout, Anneke T.
Cappuyns, Elisa
van der Werf, Ilse M.
Mancini, Grazia M.
Tzschach, Andreas
Bernier, Raphael
Gozes, Illana
Eichler, Evan E.
Romano, Corrado
Lindstrand, Anna
Nordgren, Ann
Kvarnung, Malin
Kleefstra, Tjitske
de Vries, Bert B.A.
Küry, Sébastien
Rosenfeld, Jill A.
Meuwissen, Marije E.
Vandeweyer, Geert
Kooy, R. Frank
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Źródło:
In Biological Psychiatry 15 February 2019 85(4):287-297
Czasopismo naukowe
Tytuł:
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients
Autorzy:
Stranneheim, HenrikAff1, Aff2, Aff3
Lagerstedt-Robinson, KristinaAff1, Aff4
Magnusson, MånsAff1, Aff3
Kvarnung, MalinAff1, Aff4
Nilsson, DanielAff1, Aff4
Lesko, NicoleAff1, Aff2
Engvall, MartinAff1, Aff2
Anderlid, Britt-MarieAff1, Aff4
Arnell, Henrik
Johansson, Carolina Backman
Barbaro, Michela
Björck, ErikAff1, Aff4
Bruhn, HeleneAff2, Aff6
Eisfeldt, JesperAff1, Aff4
Freyer, ChristophAff2, Aff6
Grigelioniene, GiedreAff1, Aff4
Gustavsson, PeterAff1, Aff4
Hammarsjö, AnnaAff1, Aff4
Hellström-Pigg, MarittaAff1, Aff4
Iwarsson, ErikAff1, Aff4
Jemt, Anders
Laaksonen, Mikael
Enoksson, Sara Lind
Malmgren, HelenaAff1, Aff4
Naess, Karin
Nordenskjöld, MagnusAff1, Aff4
Oscarson, Mikael
Pettersson, MariaAff1, Aff4
Rasi, Chiara
Rosenbaum, Adam
Sahlin, EllikaAff1, Aff4
Sardh, ElianeAff1, Aff2
Stödberg, TommyAff2, Aff5
Tesi, BiancaAff1, Aff4
Tham, EmmaAff1, Aff4
Thonberg, HåkanAff1, Aff4
Töhönen, Virpi
von Döbeln, Ulrika
Vassiliou, DaphneAff1, Aff2
Vonlanthen, Sofie
Wikström, Ann-Charlotte
Wincent, JosephineAff1, Aff4
Winqvist, Ola
Wredenberg, AnnaAff2, Aff6
Ygberg, SofiaAff2, Aff5
Zetterström, Rolf H.Aff1, Aff2
Marits, Per
Soller, Maria JohanssonAff1, Aff4
Nordgren, AnnAff1, Aff4
Wirta, ValtteriAff3, Aff7
Lindstrand, AnnaAff1, Aff4
Wedell, AnnaAff1, Aff2, Aff9
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Źródło:
Genome Medicine. 13(1)
Czasopismo naukowe
Tytuł:
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
Autorzy:
Wang, Tianyun
Hoekzema, Kendra
Vecchio, DavideAff2, Aff3
Wu, Huidan
Sulovari, Arvis
Coe, Bradley P.
Gillentine, Madelyn A.
Wilfert, Amy B.
Perez-Jurado, Luis A.Aff5, Aff6, Aff7
Kvarnung, MalinAff8, Aff9
Sleyp, Yoeri
Earl, Rachel K.
Rosenfeld, Jill A.Aff12, Aff13
Geisheker, Madeleine R.
Han, Lin
Du, Bing
Barnett, ChrisAff5, Aff14
Thompson, Elizabeth
Shaw, Marie
Carroll, Renee
Friend, Kathryn
Catford, Rachael
Palmer, Elizabeth E.Aff16, Aff17
Zou, Xiaobing
Ou, Jianjun
Li, Honghui
Guo, Hui
Gerdts, Jennifer
Avola, Emanuela
Calabrese, Giuseppe
Elia, Maurizio
Greco, Donatella
Lindstrand, AnnaAff8, Aff9
Nordgren, AnnAff8, Aff9
Anderlid, Britt-MarieAff8, Aff9
Vandeweyer, Geert
Van Dijck, Anke
Van der Aa, Nathalie
McKenna, Brooke
Hancarova, Miroslava
Bendova, Sarka
Havlovicova, Marketa
Malerba, Giovanni
Bernardina, Bernardo Dalla
Muglia, Pierandrea
van Haeringen, Arie
Hoffer, Mariette J. V.
Franke, BarbaraAff29, Aff30
Cappuccio, GerardaAff31, Aff32
Delatycki, Martin
Lockhart, Paul J.Aff33, Aff34
Manning, Melanie A.Aff35, Aff36
Liu, PengfeiAff12, Aff13
Scheffer, Ingrid E.Aff33, Aff37, Aff38, Aff39
Brunetti-Pierri, NicolaAff31, Aff32
Rommelse, NandaAff30, Aff40
Amaral, David G.
Santen, Gijs W. E.
Trabetti, Elisabetta
Sedláček, Zdeněk
Michaelson, Jacob J.
Pierce, Karen
Courchesne, Eric
Kooy, R. Frank
Nordenskjöld, MagnusAff8, Aff9
Romano, Corrado
Peeters, Hilde
Bernier, Raphael A.
Gecz, JozefAff6, Aff14, Aff15
Xia, KunAff4, Aff44
Eichler, Evan E.Aff1, Aff45, IDs4146702018723y_cor72
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Źródło:
Nature Communications. 11(1)
Czasopismo naukowe
Tytuł:
Presynaptic dysfunction in CASK-related neurodevelopmental disorders
Autorzy:
Becker, MartinAff1, Aff2
Mastropasqua, FrancescaAff1, Aff2
Reising, Jan PhilippAff2, Aff3
Maier, Simon
Ho, Mai-Lan
Rabkina, IelyzavetaAff1, Aff2
Li, DanyangAff1, Aff2
Neufeld, Janina
Ballenberger, LeaAff1, Aff2, Aff6
Myers, LynneaAff1, Aff7
Moritz, VivekaAff1, Aff2
Kele, Malin
Wincent, JosephineAff9, Aff10
Willfors, CharlotteAff1, Aff9
Sitnikov, Rouslan
Herlenius, EricAff2, Aff3
Anderlid, Britt-MarieAff9, Aff10
Falk, Anna
Bölte, SvenAff1, Aff12, Aff13
Tammimies, KristiinaAff1, Aff2
Pokaż więcej
Źródło:
Translational Psychiatry. 10(1)
Czasopismo naukowe
Tytuł:
From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability
Autorzy:
Lindstrand, AnnaAff1, Aff2, Aff3
Eisfeldt, JesperAff1, Aff2, Aff3, Aff4
Pettersson, MariaAff1, Aff2, Aff3
Carvalho, Claudia M. B.
Kvarnung, MalinAff1, Aff2, Aff3
Grigelioniene, GiedreAff1, Aff2, Aff3
Anderlid, Britt-MarieAff1, Aff2, Aff3
Bjerin, Olof
Gustavsson, PeterAff1, Aff2, Aff3
Hammarsjö, AnnaAff1, Aff2, Aff3
Georgii-Hemming, Patrik
Iwarsson, ErikAff1, Aff2, Aff3
Johansson-Soller, MariaAff1, Aff2, Aff3
Lagerstedt-Robinson, KristinaAff1, Aff2, Aff3
Lieden, AgneAff1, Aff2, Aff3
Magnusson, MånsAff2, Aff4, Aff7
Martin, Marcel
Malmgren, HelenaAff1, Aff2, Aff3
Nordenskjöld, MagnusAff1, Aff2, Aff3
Norling, Ameli
Sahlin, EllikaAff1, Aff2, Aff3
Stranneheim, HenrikAff2, Aff3, Aff7
Tham, EmmaAff1, Aff2, Aff3
Wincent, JosephineAff1, Aff2, Aff3
Ygberg, SofiaAff6, Aff7
Wedell, AnnaAff2, Aff7
Wirta, ValtteriAff9, Aff10
Nordgren, AnnAff1, Aff2, Aff3
Lundin, JohannaAff1, Aff3, Aff5
Nilsson, DanielAff1, Aff2, Aff3, Aff4
Pokaż więcej
Źródło:
Genome Medicine. 11(1)
Czasopismo naukowe

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