302 results on '"Mandel, Jean-Louis"'
Search Results
2. Ocular manifestations in Koolen–de Vries syndrome: an international study
3. Avis 23-23. Avis conjoint des Académies nationales de médecine et de pharmacie sur l’errance diagnostique dans les maladies rares
4. GenIDA: an international participatory database to gain knowledge on health issues related to genetic forms of neurodevelopmental disorders
5. GenIDA, a participatory patient registry for genetic forms of intellectual disability provides detailed caregiver-reported information on 237 individuals with Koolen-de Vries syndrome
6. The impact of lockdown on young people with genetic neurodevelopmental disabilities: a study with the international participatory database GenIDA
7. Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X
8. Speech and language in DDX3X‐neurodevelopmental disorder: A call for early augmentative and alternative communication intervention.
9. AAV‐delivered diacylglycerol kinase DGKk achieves long‐term rescue of fragile X syndrome mouse model
10. Attitudes towards Genetic Information Delivered by High-Throughput Sequencing among Molecular Geneticists, Genetic Counselors, Medical Advisors and Students in France
11. Sex-specific impact of prenatal androgens on social brain default mode subsystems
12. Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation
13. Genes and Pathways Regulated by Androgens in Human Neural Cells, Potential Candidates for the Male Excess in Autism Spectrum Disorder
14. WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagy
15. The Lipid Phosphatase Myotubularin Is Essential for Skeletal Muscle Maintenance but Not for Myogenesis in Mice
16. Spatial control of nucleoporin condensation by fragile X‐related proteins
17. Properties of Polyglutamine Expansion in vitro and in a Cellular Model for Huntington's Disease
18. Evolution of the Friedreich's Ataxia Trinucleotide Repeat Expansion: Founder Effect and Premutations
19. Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion
20. A Close Relative of the Adrenoleukodystrophy (ALD) Gene Codes for a Peroxisomal Protein with a Specific Expression Pattern
21. Modifications du génome des cellules germinales et de l’embryon humains
22. Fragile X Mental Retardation Protein (FMRP) controls diacylglycerol kinase activity in neurons
23. Clinical and radiological assessment of scoliosis in Koolen‐de Vries syndrome.
24. Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases
25. Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet–Biedl syndrome
26. Analysis of mammalian gene function through broad-based phenotypic screens across a consortium of mouse clinics
27. T-Tubule Disorganization and Defective Excitation-Contraction Coupling in Muscle Fibers Lacking Myotubularin Lipid Phosphatase
28. Transient Ciliogenesis Involving Bardet-Biedl Syndrome Proteins Is a Fundamental Characteristic of Adipogenic Differentiation
29. Increased Expression of Wild-Type or a Centronuclear Myopathy Mutant of Dynamin 2 in Skeletal Muscle of Adult Mice Leads to Structural Defects and Muscle Weakness
30. Novel de novo mutations in ZBTB20 in Primrose syndrome with congenital hypothyroidism
31. Use of SNP array analysis to identify a novel TRIM32 mutation in limb-girdle muscular dystrophy type 2H
32. Retroviral-Mediated Gene Transfer Corrects Very-Long-Chain Fatty Acid Metabolism in Adrenoleukodystrophy Fibroblasts
33. Additional Polymorphisms at Marker Loci D9S5 and D9S15 Generate Extended Haplotypes in Linkage Disequilibrium with Friedreich Ataxia
34. The Telomeric Region of the Human X Chromosome Long Arm: Presence of a Highly Polymorphic DNA Marker and Analysis of Recombination Frequency
35. Adenovirus as an Expression Vector in Muscle Cells in vivo
36. Gene in the Region of the Friedreich Ataxia Locus Encodes a Putative Transmembrane Protein Expressed in the Nervous System
37. Genome Maps III
38. Genome Analysis and the Human X Chromosme
39. Neurocognitive and neurobehavioral characterization of two frequent forms of neurodevelopmental disorders: the DYRK1A and the Wiedemann–Steiner syndromes.
40. Next generation sequencing for molecular diagnosis of neuromuscular diseases
41. Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies
42. Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle
43. Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations
44. Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing
45. Highly Sensitive Diagnosis of 43 Monogenic Forms of Diabetes or Obesity Through One-Step PCR-Based Enrichment in Combination With Next-Generation Sequencing
46. The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation
47. SPG11 spastic paraplegia: A new cause of juvenile parkinsonism
48. Diagnostic approach to neonatal hypotonia: retrospective study on 144 neonates
49. ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme [Q.sub.10] deficiency
50. Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome
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