178 results on '"Rouleau G"'
Search Results
2. Parkinson’s Disease Genetic Loci in Rapid Eye Movement Sleep Behavior Disorder
3. Mutations in the FUS/TLS Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis
4. The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome
5. Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care
6. A homozygous mutation in SLC1A4 in siblings with severe intellectual disability and microcephaly
7. Loss of Distinct Regions on the Short Arm of Chromosome 17 Associated with Tumorigenesis of Human Astrocytomas
8. Genome-wide association study of Tourette's syndrome
9. Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia
10. Inherited cavernous malformations of the central nervous system: clinical and genetic features in 19 Swiss families
11. Pure hereditary spastic paraplegia due to a de novo mutation in the NIPA1 gene
12. LRRTM1 on chromosome 2p12 is a maternally suppressed gene that is associated paternally with handedness and schizophrenia
13. Patterns of gene expression in the limbic system of suicides with and without major depression
14. Postural control anomalies in children with Tourette syndrome
15. Autism spectrum disorders associated with X chromosome markers in French-Canadian males
16. Familiäre Kavernome des Zentralnervensystems: Eine klinische und genetische Studie an 15 deutsche Familien
17. Tourette syndrome and dopaminergic genes: a family-based association study in the French Canadian founder population
18. Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease
19. Genetic analysis of the FUS/TLS gene in essential tremor
20. Parent–child exome sequencing identifiesa de novo truncating mutation in TCF4 in non-syndromic intellectual disability
21. Production and detection of cold antihydrogen atoms
22. Producing Slow Antihydrogen for a Test of CPT Symmetry with ATHENA
23. Mapping susceptibility genes for bipolar disorder: a pharmacogenetic approach based on excellent response to lithium
24. TPH and suicidal behavior: a study in suicide completers
25. Association between the methylenetetrahydrofolate reductase 677C→T missense mutation and schizophrenia
26. Polyglutamine-containing proteins in schizophrenia
27. Recent advances in the genetics of distal hereditary motor neuropathy give insight to a disease mechanism involving copper homeostasis that may extend to other motor neuron disorders
28. Evidence for a role of phospholipase C-γ1 in the pathogenesis of bipolar disorder
29. Contribution of TARDBP mutations to sporadic amyotrophic lateral sclerosis
30. Antihydrogen production and precision experiments. The ATHENA collaboration
31. High yields from the Stockholm electron beam ion source CRYSIS
32. Refinement of the SPG9 locus on chromosome 10q23.3-24.2 and exclusion of candidate genes
33. SMILETRAP — Atomic mass measurements with ppb accuracy by using highly charged ions
34. The SMILETRAP (Stockholm-Mainz-Ion-LEvitation-TRAP) facility
35. Linkage disequilibrium analysis in Machado-Joseph disease patients of different ethnic origins
36. K–Cl cotransport in red blood cells from patients with KCC3 isoform mutants
37. Kinin-dependent hypersensitivity reactions in hemodialysis: Metabolic and genetic factors
38. A new autosomal recessive spastic ataxia associated with frequent white matter changes maps to 2q33–34
39. Risk Factors for Suicide Completion in Major Depression: A Case-Control Study of Impulsive and Aggressive Behaviors in Men
40. The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with the severity of NF2
41. The ATHENA antihydrogen apparatus
42. Les anomalies du gène superoxyde dismutase 1 dans la sclérose latérale amyotrophique familiale : corrélations phénotype/génotype et implications pratiques. L’expérience française et revue de la littérature
43. SMILETRAP - a wide-range high-precision mass spectrometer
44. Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (EPM2B) on 6p22
45. The first nonsense mutation in alsin results in a homogeneous phenotype of infantile-onset ascending spastic paralysis with bulbar involvement in two siblings
46. Refined localization of the gene for Clouston syndrome (hidrotic ectodermal dysplasia) in a large French family
47. Anticipation in familial cavernous angioma: ascertainment bias or genetic cause
48. A systematic evaluation of linkage studies in bipolar disorder
49. Toward the production of antihydrogen at rest in ATHENA
50. Étude épidémiologique, phénotypique et génétique rétrospective dans une cohorte de 283 familles : un nouvel argument pour la prédominance d’une transmission non monogénique
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