Présentation
Ressources & publications
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2018Journal (source)Am. J. Hum. Genet.Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.
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2017Journal (source)Am. J. Hum. Genet.
FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitoch...
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2013Journal (source)J. Med. Genet.
EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia.
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2017Journal (source)Am. J. Hum. Genet.
FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitoch...
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2011Journal (source)Nat Genet
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syn...
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2020Journal (source)Stem Cell Res
Generation of an iPSC line (IMAGINi022-A) from a patient carrying a SOX10 mis...
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2020Journal (source)Neuroimage Clin
Arterial spin labeling brain MRI study to evaluate the impact of deafness on ...
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2017Journal (source)Am J Hum Genet
Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.
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2017Journal (source)Am J Hum Genet
Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.
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2019Journal (source)Adv Exp Med Biol
Genetic Deciphering of Early-Onset and Severe Retinal Dystrophy Associated wi...
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2017Journal (source)Am J Hum Genet
Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.