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Care management in a French cohort with down syndrome from the AnDDI-Rares/CNSA study
Pierre-Henri Roux-Levy
,
Damien Sanlaville
,
Benedicte de Freminville
,
Renaud Touraine
,
Alice Masurel
et al.
Article dans une revue
hal-03403503v1
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Genome sequencing for genetics diagnosis of patients with intellectual disability: the DEFIDIAG study
C Binquet
,
Catherine Lejeune
,
Laurence Faivre
,
Marion Bouctot
,
Marie-Laure Asensio
et al.
Article dans une revue
hal-03610031v1
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Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing.
Paul Kuentz
,
Judith Saint-Onge
,
Yannis Duffourd
,
Jean-Benoît Courcet
,
Virginie Carmignac
et al.
Article dans une revue
hal-01560452v1
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The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature
Juliette C Piard
,
Lara Hawkes
,
Mathieu Milh
,
Laurent Villard
,
Renato Borgatti
et al.
Article dans une revue
hal-01932796v1
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PURA- Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum
Katrine M Johannesen
,
Elena Gardella
,
Cathrine E Gjerulfsen
,
Allan Bayat
,
Rob P W Rouhl
et al.
Article dans une revue
hal-03881856v1
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