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Authors whose works are in public domain in at least one jurisdiction

List of works by Joelle Roume

1-6 of 6 results

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CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation

scientific article
New insights into genotype-phenotype correlation for GLI3 mutations

scientific article
Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia

scientific article
High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy

scientific article
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

scientific article published on 12 September 2018
Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

scientific article published on 01 August 2019

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