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retrotransposal insertion (19) 19
humans (17) 17
index medicus (13) 13
male (12) 12
female (9) 9
genetics & heredity (9) 9
membrane proteins - genetics (9) 9
muscular dystrophies - genetics (9) 9
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dna mutational analysis (7) 7
dystroglycan (7) 7
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fcmd (6) 6
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amino acid sequence (2) 2
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3' untranslated regions - genetics (1) 1
3-kb insertion (1) 1
3-kb retrotransposal insertion (1) 1
3‐kb retrotransposal insertion (1) 1
abnormalities, multiple - enzymology (1) 1
abnormalities, multiple - genetics (1) 1
adipocytes (1) 1
adipose triglyceride lipase (1) 1
adult-onset citrullinemia (1) 1
adult-onset type ii citrullinemia (1) 1
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Neuromuscular Disorders, ISSN 0960-8966, 2010, Volume 20, Issue 6, pp. 397 - 402
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 6/2008, Volume 53, Issue 6, pp. 534 - 545
Journal Article
Brain & Development, ISSN 0387-7604, 2015, Volume 37, Issue 9, pp. 880 - 886
Abstract Purpose Fukuyama congenital muscular dystrophy (FCMD) is a congenital muscular dystrophy rarely reported outside Japan. Here, we report three patients... 
Neurology | Founder mutation | Haplotype analysis | Fukuyama congenital muscular dystrophy | 3-kb insertion | FKTN | DEFECTIVE GLYCOSYLATION | INVOLVEMENT | WALKER-WARBURG-SYNDROME | FUKUTIN | PHENOTYPE | DYSTROGLYCAN | CLINICAL NEUROLOGY | GENE | RETROTRANSPOSAL INSERTION | DISEASE | Genetic aspects | Muscular dystrophy
Journal Article
Journal Article
Genome Medicine, ISSN 1756-994X, 02/2012, Volume 4, Issue 2, pp. 12 - 12
Perhaps as much as two-thirds of the mammalian genome is composed of mobile genetic elements ('jumping genes'), a fraction of which is still active or can be... 
HERV | LINE-1 | Retrotransposon | Disease | Genomics | Alu | SVA | RNA INTERFERENCE | STEM-CELLS | disease | INTERSPERSED REPEATS | DICER1 MUTATIONS | HUMAN ENDOGENOUS RETROVIRUSES | CELLS IDENTIFY | RETROTRANSPOSAL INSERTION | GENETIC SCREENS | GENETICS & HEREDITY | HUMAN L1 ELEMENT | genomics | retrotransposon | SVA ELEMENTS | Epigenetic inheritance | Enzymes | Transposons | Genes | Genetic aspects | Genomes | Genetic transcription
Journal Article
NEUROMUSCULAR DISORDERS, ISSN 0960-8966, 08/2013, Volume 23, Issue 8, pp. 675 - 681
Journal Article
Journal Article
Journal Article