Kết quả tìm kiếm - Veerle Rc Eggens
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1
Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia Bằng Yasmin Namavar, P. G. Barth, Paul R. Kasher, Fred van Ruissen, Knut Brockmann, G. Bernert, Karin Writzl, Karen Ventura, Kwang‐Ting Cheng, Donna M. Ferriero, Lina Basel‐Vanagaite, Veerle Rc Eggens, Ingeborg Krägeloh‐Mann, Linda De Meırleır, Mary D. King, John M. Graham, Arpad von Moers, N. A. V. M. Knoers, László Sztriha, Rudolf Korinthenberg, PCH Consortium, William B. Dobyns, Frank Baas, Bwee Tien Poll‐The
Được phát hành 2010Artigo -
2
CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration Bằng Ashleigh E. Schaffer, Veerle Rc Eggens, Ahmet Okay Çağlayan, Miriam S. Reuter, Eric Scott, Nicole G. Coufal, Jennifer L. Silhavy, Yuanchao Xue, Hülya Kayserili, Katsuhito Yasuno, Rasim Özgür Rosti, Mostafa Abdellateef, Caner Çağlar, Paul R. Kasher, J. Leonie Cazemier, Marian A. J. Weterman, Vincent Cantagrel, Na Cai, Christiane Zweier, Umut Altunoğlu, N. Bilge Satkin, Fesih Aktar, Beyhan Tüysüz, Cengiz Yalçınkaya, Hüseyîn Çaksen, Kaya Bilgüvar, Xiang‐Dong Fu, Christopher R. Trotta, Stacey Gabriel, André Reis, Murat Günel, Frank Baas, Joseph G. Gleeson
Được phát hành 2014Artigo -
3
EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations Bằng Veerle Rc Eggens, P. G. Barth, Jikke-Mien F. Niermeijer, Jonathan Berg, Niklas Darín, Abhijit Dixit, Joël Fluss, Nicola Foulds, Darren Fowler, Tibor Hortobágyi, Thomas S. Jacques, Mary D. King, Periklis Makrythanasis, Adrienn Máté, James A. R. Nicoll, Declan O’Rourke, Sue Price, Andrew N. Williams, Louise C. Wilson, Mohnish Suri, László Sztriha, Marit B Dijns-de Wissel, Mia T van Meegen, Fred van Ruissen, Eleonora Aronica, Dirk Troost, Charles B.L.M. Majoie, Henk A. Marquering, Bwee Tien Poll‐The, Frank Baas
Được phát hành 2014Artigo -
4
Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing Bằng 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
Được phát hành 2017Artigo
Công cụ tìm kiếm:
Các môn học liên quan
Biology
Gene
Genetics
Mutation
Medicine
Anatomy
Atrophy
Cerebellar hypoplasia (non-human)
Cerebellum
Degenerative disease
Disease
Hypoplasia
Olivopontocerebellar atrophy
Pathology
RNA
Allele
Cell biology
Central nervous system disease
Compound heterozygosity
Endocrinology
Exonuclease
GSK-3
Genotype
Internal medicine
Kinase
Missense mutation
Molecular biology
Neurodegeneration
Neuroscience
Nonsense mutation