Alexander Hoischen


AuthID: R-00F-FFV

Publicações a aguardar confirmação

1
TÍTULO: A mosaic PIK3CA variant in a young adult with diffuse gastric cancer: case report
AUTORES: te Paske, IBAW; Garcia Pelaez, J; Sommer, AK; Matalonga, L; Starzynska, T; Jakubowska, A; Valle, L; Capella, G; Aretz, S; Holinski Feder, E; Steinke Lange, V; Laner, A; Schrock, E; Rump, A; Ligtenberg, M; Hoischen, A; Geverink, N; Evans, DG; Tischkowitz, M; Laurie, S; van der Post, RS; Lubinski, J; Oliveira, C; Hoogerbrugge, N; de Voer, RM; ...Mais
PUBLICAÇÃO: 2021, FONTE: EUROPEAN JOURNAL OF HUMAN GENETICS
INDEXADO EM: WOS
2
TÍTULO: Solving patients with rare diseases through programmatic reanalysis of genome-phenome data  Full Text
AUTORES: Leslie Matalonga; Carles Hernández Ferrer; Davide Piscia; Enzo Cohen; Enzo Cohen; Isabel Cuesta; Daniel Danis; Anne Sophie Denommé Pichon; Anne Sophie Denommé Pichon; Yannis Duffourd; Christian Gilissen; Mridul Johari; Steven Laurie; Shuang Li; Leslie Matalonga; Isabelle Nelson; Sophia Peters; Ida Paramonov; Sivakumar Prasanth; Peter Robinson; Karolis Sablauskas; Marco Savarese; Wouter Steyaert; Joeri K van der Velde; Antonio Vitobello; Antonio Vitobello; Rebecca Schüle; Matthis Synofzik; Ana Töpf; Lisenka E L M Vissers; Lisenka E L M Vissers; Richarda de Voer; Richarda de Voer; Stefan Aretz; Gabriel Capella; Gareth Evans; Jose Garcia Pelaez; Elke Holinski Feder; Nicoline Hoogerbrugge; Andreas Laner; Carla Oliveira; Andreas Rump; Evelin Schröck; Anna Katharina Sommer; Verena Steinke Lange; Iris te Paske; Marc Tischkowitz; Laura Valle; Siddharth Banka; Elisa Benetti; Giorgio Casari; Andrea Ciolfi; Jill Clayton Smith; Bruno Dallapiccola; Elke de Boer; Kornelia Ellwanger; Laurence Faivre; Holm Graessner; Tobias B Haack; Anna Hammarsjö; Marketa Havlovicova; Alexander Hoischen; Anne Hugon; Adam Jackson; Tjitske Kleefstra; Anna Lindstrand; Estrella López Martín; Milan Macek; Manuela Morleo; Vicenzo Nigro; Ann Nordgren; Maria Pettersson; Michele Pinelli; Simone Pizzi; Manuel Posada; Francesca Clementina Radio; Alessandra Renieri; Caroline Rooryck; Lukas Ryba; Martin Schwarz; Marco Tartaglia; Christel Thauvin; Annalaura Torella; Aurélien Trimouille; Alain Verloes; Pavel Votypka; Klea Vyshka; Birte Zurek; Jonathan Baets; Danique Beijer; Gisèle Bonne; Judith Cossins; Teresinha Evangelista; Alessandra Ferlini; Peter Hackman; Michael G Hanna; Rita Horvath; Henry Houlden; Jarred Lau; Hanns Lochmüller; ...Mais
PUBLICAÇÃO: 2021, FONTE: European Journal of Human Genetics, VOLUME: 29, NÚMERO: 9
INDEXADO EM: Scopus CrossRef: 17
3
TÍTULO: Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing  Full Text
AUTORES: Ingrid P Vogelaar; Rachel S van der Post; Han H J M van Krieken; Liesbeth Spruijt; Wendy A G van Zelst Stams; Marleen M Kets; Jan Lubinski; Anna Jakubowska; Urszula Teodorczyk; Cora M Aalfs; Liselotte P van Hest; Hugo Pinheiro; Carla Oliveira; Shalini N Jhangiani; Donna M Muzny; Richard A Gibbs; James R Lupski; Joep de Ligt; Lisenka E L M Vissers; Alexander Hoischen; Christian Gilissen; Maartje van de Vorst; Jelle J Goeman; Hans K Schackert; Guglielmina N Ranzani; Valeria Molinaro; Encarna Gomez G Garcia; Frederik J Hes; Elke Holinski Feder; Maurizio Genuardi; Margreet G E M Ausems; Rolf H Sijmons; Anja Wagner; Lizet E van der Kolk; Inga Bjornevoll; Hildegunn Hoberg Vetti; Ad Geurts van Kessel; Roland P Kuiper; Marjolijn J L Ligtenberg; Nicoline Hoogerbrugge; ...Mais
PUBLICAÇÃO: 2017, FONTE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 25, NÚMERO: 11
INDEXADO EM: Scopus WOS CrossRef: 26
4
TÍTULO: CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation
AUTORES: Jos C Jansen; Sebahattin Cirak; Monique van Scherpenzeel; Sharita Timal; Janine Reunert; Stephan Rust; Belen Perez; Dorothee Vicogne; Peter Krawitz; Yoshinao Wada; Angel Ashikov; Celia Perez Cerda; Celia Medrano; Andrea Arnoldy; Alexander Hoischen; Karin Huijben; Gerry Steenbergen; Dulce Quelhas; Luisa Diogo; Daisy Rymen; Jaak Jaeken; Nathalie Guffon; David Cheillan; Lambertus P van den Heuvel; Yusuke Maeda; Olaf Kaiser; Ulrike Schara; Patrick Gerner; Marjolein A W van den Boogert; Adriaan G Holleboom; Marie Cecile Nassogne; Etienne Sokal; Jody Salomon; Geert van den Bogaart; Joost P H Drenth; Martijn A Huynen; Joris A Veltman; Ron A Wevers; Eva Morava; Gert Matthijs; Francois Foulquier; Thorsten Marquardt; Dirk J Lefeber; ...Mais
PUBLICAÇÃO: 2016, FONTE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 98, NÚMERO: 2
INDEXADO EM: Scopus WOS CrossRef
5
TÍTULO: DVL1 Frameshift Mutations Clustering in the Penultimate Exon Cause Autosomal-Dominant Robinow Syndrome
AUTORES: Janson White; Juliana F Mazzeu; Alexander Hoischen; Shalini N Jhangiani; Tomasz Gambin; Michele Calijorne Alcino; Samantha Penney; Jorge M Saraiva; Hanne Hove; Flemming Skovby; Hulya Kayserili; Elicia Estrella; Anneke T Vulto van Silfhout; Marloes Steehouwer; Donna M Muzny; Reid R Sutton; Richard A Gibbs; James R Lupski; Han G Brunner; Bregje W M van Bon; Claudia M B Carvalho; ...Mais
PUBLICAÇÃO: 2015, FONTE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 96, NÚMERO: 4
INDEXADO EM: Scopus WOS CrossRef
6
TÍTULO: The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP  Full Text
AUTORES: Sarah M Nikkel; Andrew Dauber; Sonja de Munnik; Meghan Connolly; Rebecca L Hood; Oana Caluseriu; Jane Hurst; Usha Kini; Malgorzata J M Nowaczyk; Alexandra Afenjar; Beate Albrecht; Judith E Allanson; Paolo Balestri; Tawfeg Ben Omran; Francesco Brancati; Isabel Cordeiro; Bruna Santos da Cunha; Louisa A Delaney; Anne Destree; David Fitzpatrick; Francesca Forzano; Neeti Ghali; Greta Gillies; Katerina Harwood; Yvonne M C Hendriks; Delphine Heron; Alexander Hoischen; Engela Magdalena Honey; Lies H Hoefsloot; Jennifer Ibrahim; Claire M Jacob; Sarina G Kant; Chong Ae Kim; Edwin P Kirk; Nine V A M Knoers; Didier Lacombe; Chung Lee; Ivan F M Lo; Luiza S Lucas; Francesca Mari; Veronica Mericq; Jukka S Moilanen; Sanne Traasdahl Moller; Stephanie Moortgat; Daniela T Pilz; Kate Pope; Susan Price; Alessandra Renieri; Joaquim Sa; Jeroen Schoots; Elizabeth L Silveira; Marleen E H Simon; Anne Slavotinek; Karen K Temple; Ineke van der Burgt; Bert B A de Vries; James D Weisfeld Adams; Margo L Whiteford; Dagmar Wierczorek; Jan M Wit; Connie Fung On Yee; Chandree L Beaulieu; Sue M White; Dennis E Bulman; Ernie Bongers; Han Brunner; Murray Feingold; Kym M Boycott; ...Mais
PUBLICAÇÃO: 2013, FONTE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 8, NÚMERO: 1
INDEXADO EM: Scopus WOS CrossRef
7
TÍTULO: MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study. MLL2 mutation detection in 86 patients with Kabuki syndrome   Full Text
AUTORES: Makrythanasis, P; van Bon, BW; Steehouwer, M; Rodriguez Santiago, B; Simpson, M; Dias, P; Anderlid, BM; Arts, P; Bhat, M; Augello, B; Biamino, E; Bongers, EMHF; del Campo, M; Cordeiro, I; M. Cueto Gonzalez; Cusco, I; Deshpande, C; Frysira, E; Izatt, L; Flores, R; Galan, E; Gener, B; Gilissen, C; Granneman, SM; Hoyer, J; Yntema, HG; Kets, CM; Koolen, DA; Marcelis, CL; Medeira, A; Micale, L; Mohammed, S; de Munnik, SA; Nordgren, A; Psoni, S; Reardon, W; Revencu, N; Roscioli, T; Ruiterkamp Versteeg, M; G. Santos; Schoumans, J; Schuurs Hoeijmakers, JHM; Silengo, MC; Toledo, L; Vendrell, T; van der Burgt, I; van Lier, B; Zweier, C; Reymond, A; Trembath, RC; Perez Jurado, L; Dupont, J; de Vries, BBA; Brunner, HG; Veltman, JA; Merla, G; Antonarakis, SE; Hoischen, A; ...Mais
PUBLICAÇÃO: 2013, FONTE: CLINICAL GENETICS, VOLUME: 84, NÚMERO: 6
INDEXADO EM: Scopus WOS CrossRef
8
TÍTULO: De novo mutations of SETBP1 cause Schinzel-Giedion syndrome  Full Text
AUTORES: Alexander Hoischen; Bregje W M van Bon; Christian Gilissen; Peer Arts; Bart van Lier; Marloes Steehouwer; Petra de Vries; Rick de Reuver; Nienke Wieskamp; Geert Mortier; Koen Devriendt; Marta Z Amorim; Nicole Revencu; Alexa Kidd; Mafalda Barbosa; Anne Turner; Janine Smith; Christina Oley; Alex Henderson; Ian M Hayes; Elizabeth M Thompson; Han G Brunner; Bert B A de Vries; Joris A Veltman; ...Mais
PUBLICAÇÃO: 2010, FONTE: NATURE GENETICS, VOLUME: 42, NÚMERO: 6
INDEXADO EM: Scopus WOS CrossRef
9
TÍTULO: Massively Parallel Sequencing of Ataxia Genes after Array-Based Enrichment  Full Text
AUTORES: Alexander Hoischen; Christian Gilissen; Peer Arts; Nienke Wieskamp; Walter van der Vliet; Sascha Vermeer; Marloes Steehouwer; Petra de Vries; Rowdy Meijer; Jorge Seiqueros ; Nine V A M Knoers; Michael F Buckley; Hans Scheffer; Joris A Veltman;
PUBLICAÇÃO: 2010, FONTE: HUMAN MUTATION, VOLUME: 31, NÚMERO: 4
INDEXADO EM: Scopus WOS CrossRef

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