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Brain (London, England : 1878), ISSN 0006-8950, 04/2017, Volume 140, Issue 4, pp. 940 - 952
Journal Article
by Chaki, Moumita and Airik, Rannar and Ghosh, Amiya K and Giles, Rachel H and Chen, Rui and Slaats, Gisela G and Wang, Hui and Hurd, Toby W and Zhou, Weibin and Cluckey, Andrew and Gee, Heon Yung and Ramaswami, Gokul and Hong, Chen-Jei and Hamilton, Bruce A and Červenka, Igor and Ganji, Ranjani Sri and Bryja, Vitezslav and Arts, Heleen H and van Reeuwijk, Jeroen and Oud, Machteld M and Letteboer, Stef J.F and Roepman, Ronald and Husson, Hervé and Ibraghimov-Beskrovnaya, Oxana and Yasunaga, Takayuki and Walz, Gerd and Eley, Lorraine and Sayer, John A and Schermer, Bernhard and Liebau, Max C and Benzing, Thomas and Le Corre, Stephanie and Drummond, Iain and Janssen, Sabine and Allen, Susan J and Natarajan, Sivakumar and O’Toole, John F and Attanasio, Massimo and Saunier, Sophie and Antignac, Corinne and Koenekoop, Robert K and Ren, Huanan and Lopez, Irma and Nayir, Ahmet and Stoetzel, Corinne and Dollfus, Helene and Massoudi, Rustin and Gleeson, Joseph G and Andreoli, Sharon P and Doherty, Dan G and Lindstrad, Anna and Golzio, Christelle and Katsanis, Nicholas and Pape, Lars and Abboud, Emad B and Al-Rajhi, Ali A and Lewis, Richard A and Omran, Heymut and Lee, Eva Y.-H.P and Wang, Shaohui and Sekiguchi, JoAnn M and Saunders, Rudel and Johnson, Colin A and Garner, Elizabeth and Vanselow, Katja and Andersen, Jens S and Shlomai, Joseph and Nurnberg, Gudrun and Nurnberg, Peter and Levy, Shawn and Smogorzewska, Agata and Otto, Edgar A and Hildebrandt, Friedhelm
Cell (Cambridge), ISSN 0092-8674, 2012, Volume 150, Issue 3, pp. 533 - 548
Journal Article
Cell stem cell, ISSN 1934-5909, 2007, Volume 1, Issue 1, pp. 113 - 126
Developmental abnormalities, cancer, and premature aging each have been linked to defects in the DNA damage response (DDR). Mutations in the ATR checkpoint... 
STEMCELL | DNA | Phenotype | Animals | Aging - genetics | Protein-Serine-Threonine Kinases - genetics | Cell Cycle Proteins - genetics | Mice | Stem Cells - cytology | Ataxia Telangiectasia Mutated Proteins | Genes, Essential | Mice, Knockout | Seckel syndrome | stem cells | checkpoints | aging | genome integrity | ATR
Journal Article
Trends in genetics, ISSN 0168-9525, 2012, Volume 28, Issue 4, pp. 147 - 154
The removal by splicing of introns from the primary transcripts of most mammalian genes is an essential step in gene expression. Splicing is performed by... 
Medical Education | MINOR CLASS | RNA | DEVELOPMENTAL DISORDER | INTRONS | ORIGIN RECOGNITION COMPLEX | SR PROTEINS | IN-VIVO | SPLICEOSOME | GENETICS & HEREDITY | SECKEL-SYNDROME | MUTATIONS | Spliceosomes - metabolism | RNA Splicing | Animals | Neoplasms - genetics | Spliceosomes - genetics | Introns | Humans | Mutation | Gene expression | Genes
Journal Article
Nature genetics, ISSN 1061-4036, 2011, Volume 43, Issue 1, pp. 23 - 26
Journal Article
BMC medical genomics, ISSN 1755-8794, 2015, Volume 8, Issue S1, pp. 1 - 11
Autosomal recessive primary microcephaly (MCPH) is a neurodevelopmental disorder that is characterised by microcephaly present at birth and non-progressive... 
ASPM MUTATIONS | PAKISTANI FAMILY | ABNORMAL SPINDLE PROTEIN | DNA-DAMAGE RESPONSE | GENETICS & HEREDITY | MITOTIC SPINDLE | CHROMOSOME CONDENSATION | BRAIN SIZE | SECKEL SYNDROME | PROTEIN-TRUNCATING MUTATIONS | CENTROSOMAL PROTEIN | Animals | Microcephaly - genetics | Mutation | Microcephaly - epidemiology | Saudi Arabia - epidemiology | Humans
Journal Article
Journal of pediatric neurology, ISSN 1304-2580, 09/2016, Volume 14, Issue 3, pp. 122 - 125
Journal Article
Nature genetics, ISSN 1061-4036, 03/2017, Volume 49, Issue 4, pp. 537 - 549
Journal Article