खोज परिणाम - D Doherty
- प्रदर्शित 1 - 5 परिणाम 5
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Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis) द्वारा D Doherty, Melissa A. Parisi, Laura S. Finn, Meral Gunay‐Aygun, Majeed Al-Mateen, Daniel Bates, Carol L. Clericuzio, Hülya Demır, Michael O. Dorschner, Anthonie J. van Essen, William A. Gahl, Mattia Gentile, Nicholas T. Gorden, Abigail Hikida, Dana Knutzen, Hamìt Özyürek, Ian G. Phelps, Phillip Rosenthal, Alain Verloès, Heike Weigand, P. F. Chance, William B. Dobyns, Ian Glass
प्रकाशित 2009Artigo -
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Joubert syndrome: A model for untangling recessive disorders with extreme genetic heterogeneity द्वारा R, Bachmann-Gagescu, JC, Dempsey, IG, Phelps, BJ, O’Roak, DM, Knutzen, TC, Rue, GE, Ishak, CR, Isabella, N, Gorden, J, Adkins, EA, Boyle, N, de Lacy, D, O’Day, A, Alswaid, AR, Devi, L, Lingappa, C, Lourenço, L, Martorell, À, Garcia-Cazorla, H, Ozyürek, G, Haliloğlu, B, Tuysuz, M, Topçu, P, Chance, MA, Parisi, I, Glass, J, Shendure, D, Doherty
प्रकाशित 2015मूलपाठ -
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Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling द्वारा Moumita Chaki, Rannar Airik, Amiya K. Ghosh, Rachel H. Giles, Rui Chen, Gisela G. Slaats, Hui Wang, Toby W. Hurd, Weibin Zhou, Andrew Cluckey, Heon Yung Gee, Gokul Ramaswami, Chen‐Jei Hong, Bruce A. Hamilton, Igor Červenka, Ranjani Sri Ganji, Vı́tězslav Bryja, Heleen H. Arts, Jeroen van Reeuwijk, Machteld M. Oud, Stef J.F. Letteboer, Ronald Roepman, Hervé Husson, Oxana Ibraghimov‐Beskrovnaya, Takayuki Yasunaga, Gerd Walz, Lorraine Eley, John A. Sayer, Bernhard Schermer, Max C. Liebau, Thomas Benzing, Stéphanie Le Corre, Iain A. Drummond, Sabine Janssen, Susan J. Allen, S. Natarajan, John F. O’Toole, Massimo Attanasio, Sophie Saunier, Corinne Antignac, Robert K. Koenekoop, Huanan Ren, Irma López, Ahmet Nayır, Corinne Stoetzel, Hélène Dollfus, Rustin Massoudi, Joseph G. Gleeson, Sharon Andreoli, D Doherty, Anna Lindstrad, Christelle Golzio, Nicholas Katsanis, Lars Pape, Emad B. Abboud, Ali A. Al‐Rajhi, Richard A. Lewis, Heymut Omran, Eva Y.-H.P. Lee, Shaohui Wang, JoAnn Sekiguchi, Rudel A. Saunders, Colin A. Johnson, Elizabeth Garner, Katja Vanselow, Jens Andersen, Joseph Shlomai, Gudrun Nürnberg, Peter Nürnberg, Shawn Levy, Agata Smogorzewska, Edgar A. Otto, Friedhelm Hildebrandt
प्रकाशित 2012Artigo
खोज साधन:
संबंधित विषय
Biology
Gene
Genetics
ATPase
Ataxia
Biochemistry
Cell biology
Cerebellar hypoplasia (non-human)
Cerebellar vermis
Cerebellum
Chemistry
Ciliopathies
Cilium
Cirrhosis
Congenital hepatic fibrosis
DNA
DNA damage
Ecology
Endocrinology
Enzyme
Exome
Exome sequencing
Forest fragmentation
Fragmentation (computing)
Geography
Habitat
Habitat destruction
Habitat fragmentation
Hypoplasia
Hypotonia