Risultati della ricerca - Najim Ameziane

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  1. 1
    Diagnosis of Fanconi Anemia: Mutation Analysis by Multiplex Ligation-Dependent Probe Amplification and PCR-Based Sanger Sequencing

    Diagnosis of Fanconi Anemia: Mutation Analysis by Multiplex Ligation-Dependent Probe Amplification and PCR-Based Sanger Sequencing di Gilles Thomas, Karijn Floor, Lianne Kerkhoven, Najim Ameziane, Hans Joenje, Johan P. de Winter

    Pubblicazione 2012
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  2. 2
    Methylation-Specific MLPA (MS-MLPA): simultaneous detection of CpG methylation and copy number changes of up to 40 sequences

    Methylation-Specific MLPA (MS-MLPA): simultaneous detection of CpG methylation and copy number changes of up to 40 sequences di Anders O.H. Nygren, Najim Ameziane, Helena M. B. Duarte, Raymon Vijzelaar, Quinten Waisfisz, Corine J. Hess, Jan P. Schouten, Abdellatif Errami

    Pubblicazione 2005
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  3. 3
    Novel inactivating mutations of FANCC in Brazilian patients with Fanconi anemia

    Novel inactivating mutations of FANCC in Brazilian patients with Fanconi anemia di Jane E. Yates, Winifred Keeble, Gerard Pals, Najim Ameziane, Rosalina van Spaendonk, Susan B. Olson, Yassmine Akkari, Ricardo Pasqüini, Grover C. Bagby

    Pubblicazione 2006
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  4. 4
    Genetic subtyping of Fanconi anemia by comprehensive mutation screening

    Genetic subtyping of Fanconi anemia by comprehensive mutation screening di Najim Ameziane, Abdellatif Errami, France Léveillé, Chantal Fontaine, Yne de Vries, Rosalina M.L. van Spaendonk, Johan P. de Winter, Gerard Pals, Hans Joenje

    Pubblicazione 2007
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  5. 5
    A strategy for molecular diagnostics of Fanconi anemia in Brazilian patients

    A strategy for molecular diagnostics of Fanconi anemia in Brazilian patients di Daniela Pilonetto, Noemi F. Pereira, Carmem Bonfim, Lisandro Ribeiro, Marco A. Bitencourt, Lianne Kerkhoven, Karijn Floor, Najim Ameziane, Hans Joenje, Gilles Thomas, Ricardo Pasqüini

    Pubblicazione 2017
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  6. 6
    Diagnosis of Fanconi Anemia: Mutation Analysis by Next-Generation Sequencing

    Diagnosis of Fanconi Anemia: Mutation Analysis by Next-Generation Sequencing di Najim Ameziane, Daoud Sie, Stefan C. Dentro, Yavuz Ariyürek, Lianne Kerkhoven, Hans Joenje, Josephine C. Dorsman, Bauke Ylstra, Gilles Thomas, Erik A. Sistermans, Johan P. de Winter

    Pubblicazione 2012
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  7. 7
    Absence of the MGMT protein as well as methylation of the MGMT promoter predict the sensitivity for temozolomide

    Absence of the MGMT protein as well as methylation of the MGMT promoter predict the sensitivity for temozolomide di Krista A. van Nifterik, Jaap van den Berg, W. F. van der Meide, Najim Ameziane, Laurine E. Wedekind, Renske D.M. Steenbergen, Sieger Leenstra, M.V.M. Lafleur, Ben J. Slotman, Lukas J.A. Stalpers, Peter Sminia

    Pubblicazione 2010
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  8. 8
    Somatic genomic alterations in retinoblastoma beyond RB1 are rare and limited to copy number changes

    Somatic genomic alterations in retinoblastoma beyond RB1 are rare and limited to copy number changes di Irsan Kooi, Berber M. Mol, Maarten P.G. Massink, Najim Ameziane, Hanne Meijers‐Heijboer, Charlotte J. Dommering, Saskia E. van Mil, Yne de Vries, Annemarie H. van der Hout, Gertjan J.L. Kaspers, Annette C. Moll, Hein te Riele, Jacqueline Cloos, Josephine C. Dorsman

    Pubblicazione 2016
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  9. 9
    The Rostock International Parkinson's Disease (<scp>ROPAD</scp>) Study: Protocol and Initial Findings

    The Rostock International Parkinson's Disease (<scp>ROPAD</scp>) Study: Protocol and Initial Findings di Volha Skrahina, Hanaa Gaber, Eva‐Juliane Vollstedt, Toni M. Förster, Tatiana Usnich, Filipa Curado, Norbert Brüggemann, Jefri J Paul, Xenia Bogdanovic, Selen Zülbahar, Maria Olmedillas, Snezana Skobalj, Najim Ameziane, Peter Bauer, Ilona Csóti, Natalia Koleva‐Alazeh, Ulrike Grittner, Ana Westenberger, Meike Kasten, Christian Beetz, Christine Klein, Arndt Rolfs

    Pubblicazione 2020
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  10. 10
    Functional <i>Ex Vivo</i> Assay to Select Homologous Recombination–Deficient Breast Tumors for PARP Inhibitor Treatment

    Functional <i>Ex Vivo</i> Assay to Select Homologous Recombination–Deficient Breast Tumors for PARP Inhibitor Treatment di Kishan A.T. Naipal, Nicole S. Verkaik, Najim Ameziane, Carolien H. M. van Deurzen, Petra ter Brugge, Matty Meijers, Anieta M. Sieuwerts, John W.M. Martens, Mark J. O’Connor, Harry Vrieling, Jan H.J. Hoeijmakers, Jos Jonkers, Roland Kanaar, Johan P. de Winter, Maaike P.G. Vreeswijk, Agnes Jager, Dik C. van Gent

    Pubblicazione 2014
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  11. 11
    RNA-Seq of Tumor-Educated Platelets Enables Blood-Based Pan-Cancer, Multiclass, and Molecular Pathway Cancer Diagnostics

    RNA-Seq of Tumor-Educated Platelets Enables Blood-Based Pan-Cancer, Multiclass, and Molecular Pathway Cancer Diagnostics di Myron G. Best, Nik Sol, Irsan Kooi, Jihane Tannous, Bart A. Westerman, François Rustenburg, Pepijn Schellen, Heleen Verschueren, Edward P. Post, Jan Köster, Bauke Ylstra, Najim Ameziane, Josephine C. Dorsman, Egbert F. Smit, Henk M.W. Verheul, David P. Noske, Jaap C. Reijneveld, R. Jonas A. Nilsson, Bakhos A. Tannous, Pieter Wesseling, Thomas Würdinger

    Pubblicazione 2015
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  12. 12
    Warsaw Breakage Syndrome associated DDX11 helicase resolves G-quadruplex structures to support sister chromatid cohesion

    Warsaw Breakage Syndrome associated DDX11 helicase resolves G-quadruplex structures to support sister chromatid cohesion di Janne J. M. van Schie, Atiq Faramarz, Jesper A. Balk, Grant S. Stewart, Erika Cantelli, Anneke B. Oostra, Martin A. Rooimans, Joanna L. Parish, Cynthia de Almeida Estéves, Katja Dumić, Ingeborg Barišić, Karin E. M. Diderich, Marjon A. van Slegtenhorst, Mohammad Mahtab, Francesca M. Pisani, Hein te Riele, Najim Ameziane, Rob M.F. Wolthuis, Job de Lange

    Pubblicazione 2020
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  13. 13
    A novel Fanconi anaemia subtype associated with a dominant-negative mutation in RAD51

    A novel Fanconi anaemia subtype associated with a dominant-negative mutation in RAD51 di Najim Ameziane, Patrick May, Anneke Haitjema, Henri J. van de Vrugt, Sari E. van Rossum-Fikkert, Dejan Ristić, Gareth J. Williams, Jesper A. Balk, Davy Rockx, Hong Li, Martin A. Rooimans, Anneke B. Oostra, Eunike Velleuer, Ralf Dietrich, Onno B. Bleijerveld, Maarten Altelaar, Hanne Meijers‐Heijboer, Hans Joenje, Gustavo Glusman, Jared C. Roach, Leroy Hood, David J. Galas, Claire Wyman, Rudi Balling, Johan T. den Dunnen, Johan P. de Winter, Roland Kanaar, Richard Gelinas, Josephine C. Dorsman

    Pubblicazione 2015
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  14. 14
    Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort

    Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort di Aida M. Bertoli‐Avella, Christian Beetz, Najim Ameziane, María Eugenia Rocha, Pilar Guatibonza, Catarina Pereira, María Calvo, Natalia Herrera-Ordonez, Monica Segura-Castel, Dan Diego‐Álvarez, Michal Zawada, Krishna Kumar Kandaswamy, Martin Werber, Omid Paknia, Susan Zielske, Dimitar Ugrinovski, Gitte Warnack, Kapil Kampe, Marius‐Ionuţ Iuraşcu, Claudia Cozma, Florian Vogel, Amal Alhashem, Jozef Hertecant, Aisha Al‐Shamsi, Abdulrahman Alswaid, Wafaa Eyaid, Fuad Al Mutairi, Ahmed Alfares, Mohammed Al Balwi, Majid Alfadhel, Nouriya Al‐Sannaa, William Reardon, Yasemin Alanay, Arndt Rolfs, Peter Bauer

    Pubblicazione 2020
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  15. 15
    Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders

    Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders di Aida M. Bertoli‐Avella, Krishna Kumar Kandaswamy, Suliman Khan, Natalia Ordonez‐Herrera, Kornélia Tripolszki, Christian Beetz, María Eugenia Rocha, Alize Urzi, Ronja Hotakainen, Anika Leubauer, Ruslan Al‐Ali, Vasiliki Karageorgou, Oana Moldovan, Patrícia Dias, Amal Alhashem, Brahim Tabarki, Mohammed Al Balwi, Abdulrahman Alswaid, Zuhair N. Al‐Hassnan, Malak Alghamdi, Zahra Hadipour, Fatemeh Hadipour, Nadia Al Hashmi, Lihadh Al‐Gazali, Huma Arshad Cheema, Maha S. Zaki, Irina Hüning, Ahmed Alfares, Wafaa Eyaid, Fuad Al Mutairi, Majid Alfadhel, Fowzan S. Alkuraya, Nouriya Al‐Sannaa, Aisha Al‐Shamsi, Najim Ameziane, Arndt Rolfs, Peter Bauer

    Pubblicazione 2021
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  16. 16
    Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking

    Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking di Leslie E. Sanderson, Kristina Lanko, Maysoon Alsagob, Rawan Almass, Nada Al-Ahmadi, Maryam Najafi, Mohammad A. Al–Muhaizea, Hamad Alzaidan, Hesham Aldhalaan, Elena Perenthaler, Herma C. van der Linde, Anita Nikoncuk, Nikolas A. Kühn, Dinu Antony, Tarek Mustafa Owaidah, Salmo Raskin, Luana Gabriela Dalla Rosa Vieira, Romulo Mombach, Najmeh Ahangari, Tainá Regina Damaceno Silveira, Najim Ameziane, Arndt Rolfs, Aljohara Alharbi, Raghda M Sabbagh, Khalid AlAhmadi, Bashayer S. Alawam, Hazem Ghebeh, Aljouhra AlHargan, Anoud Albader, Faisal S. BinHumaid, Ewa Goljan, Dorota Monies, Osama M Mustafa, Mazhor Aldosary, Albandary AlBakheet, Banan Al‐Younes, Faten Almutairi, Ali Al‐Odaib, Dürdane Aksoy, A. Nazlı Başak, Robin Palvadeau, Daniah Trabzuni, Jill A. Rosenfeld, Ehsan Ghayoor Karimiani, Brian F. Meyer, Bedri Karakas, Futwan Al‐Mohanna, Stefan T. Arold, Dilek Çolak, Reza Maroofian, Henry Houlden, Aida M. Bertoli‐Avella, Miriam Schmidts, Tahsin Stefan Barakat, Tjakko J. van Ham, Namik Kaya

    Pubblicazione 2021
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  17. 17
    Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson’s disease study

    Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson’s disease study di Ana Westenberger, Volha Skrahina, Tatiana Usnich, Christian Beetz, Eva-Juliane Vollstedt, Björn‐Hergen Laabs, Jefri J Paul, Filipa Curado, Snezana Skobalj, Hanaa Gaber, Maria Olmedillas, Xenia Bogdanovic, Najim Ameziane, Nathalie Schell, Jan Aasly, Mitra Afshari, Pinky Agarwal, Jason Aldred, Fernando Alonso‐Frech, Roderick Anderson, Rui Araújo, David Arkadir, Micol Avenali, Mehmet Balal, Sandra Benizri, Sagari Betté, Perminder Bhatia, Michael Bonello, Pedro Braga‐Neto, Sarah Brauneis, Francisco Cardoso, Francesco Cavallieri, Joseph Claßen, Lisa J. Cohen, Della Coletta, David Crosiers, Paskal Cullufi, Khashayar Dashtipour, Meltem Demirkıran, Patrícia de Carvalho Aguiar, Anna De Rosa, Ruth Djaldetti, Okan Doğu, Maria Gabriela dos Santos Ghilardi, Carsten Eggers, Bülent Elibol, Aaron Ellenbogen, Sibel Ertan, G Fabiani, Björn Falkenburger, S. Farrow, Tsviya Fay-Karmon, Gerald J Ferencz, Erich Talamoni Fonoff, Yára Dadalti Fragoso, Gençer Genç, A Gorospe, Francisco Grandas, Doreen Gruber, Mark Gudesblatt, Tanya Gurevich, Johann Hagenah, Haşmet Hanağası, Sharon Hassin-Baer, Robert A. Hauser, Jorge Hernández‐Vara, Birgit Herting, Vanessa K. Hinson, Elliot Hogg, Joshua Shulman, Eduardo Hummelgen, Kelly Hussey, Jon Infante, Stuart Isaacson, Serge Jaumà, Natalia Koleva‐Alazeh, Gregor Kuhlenbäumer, Andrea A. Kühn, Irene Litvan, Lydia López Manzanares, McKenzie Luxmore, Sujeena Manandhar, V. Marcaud, Katerina Markopoulou, Connie Marras, Mark McKenzie, Michele Matarazzo, Marcelo Merello, Brit Mollenhauer, John C. Morgan, Stephen Mullin, Thomas Musacchio, Bennett Myers, Anna Negrotti, Anette Nieves, Zeev Nitsan, Nader Oskooilar, Özgür Öztop Çakmak, Gian Pal, Nicola Pavese

    Pubblicazione 2024
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