809 results on '"Mandel, Jean-Louis"'
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2. Ocular manifestations in Koolen–de Vries syndrome: an international study
3. Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X
4. Avis 23-23. Avis conjoint des Académies nationales de médecine et de pharmacie sur l’errance diagnostique dans les maladies rares
5. GenIDA: an international participatory database to gain knowledge on health issues related to genetic forms of neurodevelopmental disorders
6. Avant-propos
7. GenIDA, a participatory patient registry for genetic forms of intellectual disability provides detailed caregiver-reported information on 237 individuals with Koolen-de Vries syndrome
8. Recurrent familial case of early childhood sudden death: Complex post mortem genetic investigations
9. The impact of lockdown on young people with genetic neurodevelopmental disabilities: a study with the international participatory database GenIDA
10. Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance
11. Speech and language in DDX3X‐neurodevelopmental disorder: A call for early augmentative and alternative communication intervention.
12. AAV‐delivered diacylglycerol kinase DGKk achieves long‐term rescue of fragile X syndrome mouse model
13. Attitudes towards Genetic Information Delivered by High-Throughput Sequencing among Molecular Geneticists, Genetic Counselors, Medical Advisors and Students in France
14. Fragile X Mental Retardation Protein (FMRP) controls diacylglycerol kinase activity in neurons
15. Sex-specific impact of prenatal androgens on social brain default mode subsystems
16. Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation
17. Ocular manifestations in Koolen–de Vries syndrome: an international study
18. Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome
19. Spinocerebellar ataxia type 7 (SCA7)
20. Genes and Pathways Regulated by Androgens in Human Neural Cells, Potential Candidates for the Male Excess in Autism Spectrum Disorder
21. WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagy
22. The Lipid Phosphatase Myotubularin Is Essential for Skeletal Muscle Maintenance but Not for Myogenesis in Mice
23. Spatial control of nucleoporin condensation by fragile X‐related proteins
24. P828: GenIDA, an international participatory database to better characterize comorbidities of genetic forms of intellectual disability: Novel findings of DDX3X syndrome
25. GENOME ENGINEERING AND GENOME EDITING USING CRISPR/CAS9–RNA-GUIDED NUCLEASE
26. Properties of Polyglutamine Expansion in vitro and in a Cellular Model for Huntington's Disease
27. Clinical and radiological assessment of scoliosis in Koolen‐de Vries syndrome
28. Maladies rares
29. Evolution of the Friedreich's Ataxia Trinucleotide Repeat Expansion: Founder Effect and Premutations
30. Lessons from two series by physicians and caregivers’ self-reported data, and DNA methylation profile in DDX3X-Related Disorders
31. Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion
32. A Close Relative of the Adrenoleukodystrophy (ALD) Gene Codes for a Peroxisomal Protein with a Specific Expression Pattern
33. Modifications du génome des cellules germinales et de l’embryon humains
34. Molecular consequences of PQBP1deficiency, involved in the X-linked Renpenning syndrome
35. O46: GenIDA, an international participatory database to better characterize comorbidities of genetic forms of intellectual disability: insights on Koolen-de Vries syndrome
36. GenIDA, an international participatory database to better characterize comorbidities of genetic forms of intellectual disability: insights on Koolen-de Vries syndrome
37. GenIDA: an international participatory database to gain knowledge on health issues related to genetic forms of neurodevelopmental disorders
38. 12. Pathological mechanisms in Huntington's disease and other polyglutamine expansion diseases
39. Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases
40. Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet–Biedl syndrome
41. Neurocognitive and neurobehavioral characterization of two frequent forms of neurodevelopmental disorders: the DYRK1A and the Wiedemann–Steiner syndromes
42. Pathological Mechanisms in Polyglutamine Expansion Diseases
43. Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization
44. Analysis of mammalian gene function through broad-based phenotypic screens across a consortium of mouse clinics
45. Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome
46. L’imprévu génétique catastrophique. Peut-on le prévoir et le prévenir ?
47. Additional file 3 of The impact of lockdown on young people with genetic neurodevelopmental disabilities: a study with the international participatory database GenIDA
48. Additional file 5 of The impact of lockdown on young people with genetic neurodevelopmental disabilities: a study with the international participatory database GenIDA
49. Additional file 4 of The impact of lockdown on young people with genetic neurodevelopmental disabilities: a study with the international participatory database GenIDA
50. Additional file 2 of The impact of lockdown on young people with genetic neurodevelopmental disabilities: a study with the international participatory database GenIDA
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