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Publications
36
Semi-automated fact-checking of nucleotide sequence reagents in biomedical research publications: The Seek & Blastn tool
Authors:
Cyril Labbé
,
Natalie Grima
,
Thierry Gautier
…
Bi-allelic loss-of-function variants in
TMEM147
cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly
Authors:
Quentin Thomas
,
Marialetizia Motta
,
Thierry Gautier
…
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability
Authors:
Elke Bogaert
,
Aurore Garde
,
Thierry Gautier
…
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Thierry Gautier
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