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Your search keyword '"Sanlaville, Damien"' showing total 22 results

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22 results on '"Sanlaville, Damien"'

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1. Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study)

2. Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement

5. Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt

6. Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes

9. Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals

10. A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay

11. Exome sequencing in clinical settings: preferences and experiences of parents of children with rare diseases (SEQUAPRE study)

12. Guidelines for reporting secondary findings of genome sequencing in cancer genes: the SFMPP recommendations

14. Early-onset autoimmunity associated with SOCS1 haploinsufficiency

18. Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome

19. Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder

21. Correction: A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay

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