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Martin C Frith Selected Research

Langer-Giedion Syndrome (Trichorhinophalangeal Syndrome Type II)

8/2020Long-read DNA sequencing fully characterized chromothripsis in a patient with Langer-Giedion syndrome and Cornelia de Lange syndrome-4.

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Martin C Frith Research Topics

Disease

1Chromothripsis
08/2020
1Langer-Giedion Syndrome (Trichorhinophalangeal Syndrome Type II)
08/2020
1Genetic Translocation (Chromosomal Translocation)
01/2020
1Neoplasms (Cancer)
12/2017
1Malaria
03/2011
1Parkinson Disease (Parkinson's Disease)
03/2004

Drug/Important Bio-Agent (IBA)

3DNA (Deoxyribonucleic Acid)IBA
08/2020 - 03/2011
1Pharmaceutical PreparationsIBA
12/2017
1Complementary DNA (cDNA)IBA
12/2017
1Adenosine A2A Receptor (Adenosine A2A Receptors)IBA
03/2004