Bilaketaren emaitzak - Hüseyin Per
- Erakusten 1 - 5 emaitzak -- 5
-
1
-
2
Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations nork Kaya Bilgüvar, Ali K. Ozturk, Angeliki Louvi, Kenneth Y. Kwan, Murim Choi, Burak Tatli, Dilek Yalnızoğlu, Beyhan Tüysüz, Ahmet Okay Çağlayan, Sarenur Gökben, Hande Kaymakçalan, Tanyeri Barak, Mehmet Bakırcıoğlu, Katsuhito Yasuno, Winson S. Ho, Stephan Sanders, Ying Zhu, Sanem Yılmaz, Alp Di̇nçer, Michele H. Johnson, Richard A. Bronen, Naci Koçer, Hüseyin Per, Shrikant Mane, M. Necmettin Pamir, Cengiz Yalçınkaya, Sefer Kumandaş, Meral Topçu, Meral Özmen, Nenad Šestan, Richard P. Lifton, Matthew W. State, Murat Günel
Argitaratua 2010Artigo -
3
Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors nork Ketu Mishra-Gorur, Ahmet Okay Çağlayan, Ashleigh E. Schaffer, Chiswili Chabu, Octavian Henegariu, Fernando Vonhoff, Gozde Akgumus, S. Nishimura, Wenqi Han, Shu Tu, Burçin Baran, Hakan Gümüş, Cengiz Dilber, Maha S. Zaki, Heba A.A. Hossni, Jean‐Baptiste Rivière, Hülya Kayserili, Emily Spencer, Rasim Özgür Rosti, Jana Schroth, Hüseyin Per, Caner Çağlar, Çağri Çağlar, Duygu Dölen, Jacob F. Baranoski, Sefer Kumandaş, Frank J. Minja, E. Zeynep Erson‐Omay, Shrikant Mane, Richard P. Lifton, Tian Xu, Haig Keshishian, William B. Dobyns, C. Neil, Nenad Šestan, Angeliki Louvi, Kaya Bilgüvar, Katsuhito Yasuno, Joseph G. Gleeson, Murat Günel
Argitaratua 2014Artigo -
4
Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing nork Rea M. Lardelli, Ashleigh E. Schaffer, Veerle Rc Eggens, Maha S. Zaki, Stephanie Grainger, Shashank Sathe, Eric L. Van Nostrand, Zinayida Schlachetzki, Başak Rosti, Naiara Akizu, Eric Scott, Jennifer L. Silhavy, Laura D. Heckman, Rasim Özgür Rosti, Esra Dikoglu, Anne Gregor, Alicia Guemez‐Gamboa, Damir Musaev, Rohit Mande, Ari Widjaja, Timothy Shaw, Sebastian Markmiller, Isaac Marin‐Valencia, Justin H. Davies, Linda De Meırleır, Hülya Kayserili, Umut Altunoğlu, Mary Louise Freckmann, Linda Warwick, David Chitayat, Susan Blasér, Ahmet Okay Çağlayan, Kaya Bilgüvar, Hüseyin Per, Christina Fagerberg, Henrik Thybo Christesen, Maria Kibæk, Kimberly A. Aldinger, David K. Manchester, Naomichi Matsumoto, Kazuhiro Muramatsu, Hirotomo Saitsu, Masaaki Shiina, Kazuhiro Ogata, Nicola Foulds, William B. Dobyns, C. Neil, David Traver, Luigina Spaccini, Stefania Maria Bova, Stacey B. Gabriel, Murat Günel, Enza Maria Valente, Marie‐Cécile Nassogne, Eric J. Bennett, G Yeo, Frank Baas, Jens Lykke‐Andersen, Joseph G. Gleeson
Argitaratua 2017Artigo -
5
Biallelic variants in<i>ARHGAP19</i>cause a motor-predominant neuropathy with asymmetry and conduction slowing nork Natalia Dominik, Stéphanie Efthymiou, Christopher J. Record, Xinyu Miao, Reneé C. Lin, Jevin Parmar, Annarita Scardamaglia, Reza Maroofian, Gabriel Aughey, Abigail D. Wilson, Simon A. Lowe, Riccardo Currò, Ricardo Parolin Schnekenberg, Shahryar Alavi, Leif Leclaire, Yi He, Kristina Zhelchenska, Yohanns Bellaı̈che, Isabelle Gaugué, Mariola Skorupinska, Liedewei Van de Vondel, Sahar I. Da’as, Valentina Turchetti, Serdal Güngör, Ehsan Ghayoor Karimiani, Camila Armirola-Ricaurte, Haluk Topaloğlu, Albena Jordanova, Mashaya Zaman, Selina Banu, Wilson Marques, Pedro José Tomaselli, Büşra Aynekin, Ali Cansu, Hüseyin Per, Ayten Güleç, Javeria Raza Alvi, Tipu Sultan, Arif Khan, Giovanni Zifarelli, Shahnaz Ibrahim, Grazia M.S. Mancini, M. Mahdi Motazacker, Esther Brusse, Vincenzo Lupo, Teresa Sevilla, A. Nazlı Başak, Şeyma Tekgül, Robin Palvadeau, Jonathan Baets, Yeşim Parman, Arman Çakar, Rita Horváth, Tobias B. Haack, J. Stahl, Kathrin Grundmann‐Hauser, Joohyun Park, Stephan Züchner, Nigel G. Laing, Lindsay Wilson, Alexander M. Rossor, James M. Polke, Fernanda Barbosa Figueiredo, André Luiz Santos Pessoa, Fernando Kok, Antônio Rodrigues Coimbra Neto, Marcondes C. França, Yalda Jamshidi, Gianina Ravenscroft, Sherifa A. Hamed, Wendy K. Chung, Daniel P. S. Osborn, Michael G. Hanna, Andrea Cortese, Mary M. Reilly, James E.C. Jepson, Nathalie Lamarche‐Vane, Henry Houlden
Argitaratua 2024Pré-impressão
Bilaketa egiteko lanabesak:
Antzeko gaiak
Biology
Gene
Genetics
Neuroscience
Epilepsy
Lissencephaly
Microcephaly
Mutation
Phenotype
Zebrafish
Cell
Cell biology
Cell cycle
Centrosome
Convulsion
Corpus callosum
Drosophila melanogaster
Environmental health
Exome
Exome sequencing
Exonuclease
Febrile seizure
GTPase
Gene knockdown
Internal medicine
Loss function
Medical record
Medicine
Mitosis
Neuroblast