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Journal Article
Biomolecular Detection and Quantification, ISSN 2214-7535, 09/2017, Volume 13, pp. 40 - 48
For the relative quantification of isoform expression, RT-qPCR has been the gold standard for over a decade. More recently, digital PCR is becoming widely... 
Reverse transcriptase polymerase chain reaction | Alternative splicing | Droplet digital PCR
Journal Article
NeuroMolecular Medicine, ISSN 1535-1084, 9/2013, Volume 15, Issue 3, pp. 447 - 457
Variant ataxia telangiectasia (A-T) may be an underdiagnosed entity. We correlate data from radiosensitivity and kinase assays with clinical and molecular data... 
Neurology | Neurosciences | Biomedicine | Variant ataxia telangiectasia | cDNA analysis | Kinase assay | S-G2 micronucleus assay | ATM heterozygous carriers | In vitro radiosensitivity | Internal Medicine | KINASE-ACTIVITY | STRAND BREAK REPAIR | DNA-DAMAGE | NEUROSCIENCES | BLOOD-LYMPHOCYTES | CHROMOSOMAL RADIOSENSITIVITY | ATM GENE | INDIVIDUAL RADIOSENSITIVITY | CANCER PREDISPOSITION | IONIZING-RADIATION | GENOTYPE-PHENOTYPE | Humans | Male | Mutation, Missense | Micronucleus Tests | Rhabdomyosarcoma, Embryonal - genetics | S Phase | Caffeine - pharmacology | G2 Phase | Adult | Female | Neoplastic Syndromes, Hereditary - genetics | Child | RNA Splice Sites - genetics | Recombinational DNA Repair - genetics | Ataxia Telangiectasia Mutated Proteins - chemistry | Radiation Tolerance - genetics | Exons - genetics | Sequence Analysis, DNA | Ataxia Telangiectasia Mutated Proteins - physiology | Phenotype | Breast Neoplasms - genetics | Neurologic Examination | Pedigree | Lymphocytes - drug effects | Ataxia Telangiectasia - genetics | Heterozygote | Lymphocytes - radiation effects | Ataxia Telangiectasia Mutated Proteins - genetics | Amino Acid Substitution | Medical research | Immunoglobulins | Medical genetics | Medicine, Experimental | Ataxia | Ataxia telangiectasia | Genetic aspects | Automated teller machines | Glycoproteins | Nucleotides
Journal Article
International Journal of Radiation Biology, ISSN 0955-3002, 12/2016, Volume 92, Issue 12, pp. 823 - 836
Journal Article
Journal Article
Journal Article
Human Mutation, ISSN 1059-7794, 12/2015, Volume 36, Issue 12, pp. 1188 - 1196
ABSTRACT Leber congenital amaurosis (LCA) is a severe autosomal‐recessive retinal dystrophy leading to congenital blindness. A recently identified LCA gene is... 
Leber congenital amaurosis | 5′UTR variants | NMNAT1 | LCA9 | Alu‐mediated deletions | Alu-mediated deletions | AMAUROSIS | 5'-UTR | 5 ' UTR variants | DISEASE | GENETICS & HEREDITY | EXPRESSION | TOOL | Life Sciences
Journal Article
by Brzozowska, Beata and Ainsbury, Elizabeth and Baert, Annelot and Beaton-Green, Lindsay and Barrios, Leonardo and Barquinero, Joan Francesc and Bassinet, Celine and Beinke, Christina and Benedek, Anett and Beukes, Philip and Bortolin, Emanuela and Buraczewska, Iwona and Burbidge, Christopher and De Amicis, Andrea and De Angelis, Cinzia and Della Monaca, Sara and Depuydt, Julie and De Sanctis, Stefania and Dobos, Katalin and Domene, Mercedes Moreno and Domínguez, Inmaculada and Facco, Eva and Fattibene, Paola and Frenzel, Monika and Monteiro Gil, Octávia and Gonon, Géraldine and Gregoire, Eric and Gruel, Gaëtan and Hadjidekova, Valeria and Hatzi, Vasiliki I and Hristova, Rositsa and Jaworska, Alicja and Kis, Enikő and Kowalska, Maria and Kulka, Ulrike and Lista, Florigio and Lumniczky, Katalin and Martínez-López, Wilner and Meschini, Roberta and Moertl, Simone and Moquet, Jayne and Noditi, Mihaela and Oestreicher, Ursula and Orta Vázquez, Manuel Luis and Palma, Valentina and Pantelias, Gabriel and Montoro Pastor, Alegria and Patrono, Clarice and Piqueret-Stephan, Laure and Quattrini, Maria Cristina and Regalbuto, Elisa and Ricoul, Michelle and Roch-Lefevre, Sandrine and Roy, Laurence and Sabatier, Laure and Sarchiapone, Lucia and Sebastià, Natividad and Sommer, Sylwester and Sun, Mingzhu and Suto, Yumiko and Terzoudi, Georgia and Trompier, Francois and Vral, Anne and Wilkins, Ruth and Zafiropoulos, Demetre and Wieser, Albrecht and Woda, Clemens and Wojcik, Andrzej and Stockholms universitet and Naturvetenskapliga fakulteten and Institutionen för molekylär biovetenskap, Wenner-Grens institut
International Journal of Radiation Biology, ISSN 0955-3002, 01/2017, Volume 93, Issue 1, pp. 75 - 80
Journal Article
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