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Published in Journal of trace elements in medicine and biology (01.06.2012)
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High intra-familiar clinical variability in MORC2 mutated CMT2 patients
Semplicini, Claudio, Ollagnon-Roman, Elisabeth, Leonard-Louis, Sarah, Piguet-Lacroix, Guenaelle, Silvestre, Manon, Latour, Philippe, Stojkovic, Tanya
Published in Brain (London, England : 1878) (01.04.2017)
Published in Brain (London, England : 1878) (01.04.2017)
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WES homozygosity mapping in a recessive form of Charcot-Marie-Tooth neuropathy reveals intronic GDAP1 variant leading to a premature stop codon
Masingue, Marion, Perrot, Jimmy, Carlier, Robert-Yves, Piguet-Lacroix, Guenaelle, Latour, Philippe, Stojkovic, Tanya
Published in Neurogenetics (01.05.2018)
Published in Neurogenetics (01.05.2018)
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