22 results on '"Sanlaville, Damien"'
Search Results
2. Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement
3. Creatinine levels in French children with Down syndrome up to ten years old
4. Kidney and urological involvement in Down syndrome: frequent, underestimated, but associated with impaired quality of life and risk of kidney failure
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
7. X-linked partial corpus callosum agenesis with mild intellectual disability: identification of a novel L1CAM pathogenic variant
8. Erotomania and phenotypic continuum in a family frameshift variant of AUTS2: a case report and review
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
13. Chromosomal instability in the prediction of pituitary neuroendocrine tumors prognosis
14. Early-onset autoimmunity associated with SOCS1 haploinsufficiency
15. Chromatin remodeling dysfunction extends the etiological spectrum of schizophrenia: a case report
16. Additive Effect of Variably Penetrant 22q11.2 Duplication and Pathogenic Mutations in Autism Spectrum Disorder: To Which Extent Does the Tree Hide the Forest?
17. The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability
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
20. Clinical and molecular findings in nine new cases of tetrasomy 18p syndrome: FISH and array CGH characterization
21. Correction: A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay
22. Sex gap in aging and longevity: can sex chromosomes play a role?
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