1,437 results on '"Deleuze, Jean-François"'
Search Results
52. New insights into the genetic etiology of Alzheimer’s disease and related dementias
53. A comparison of high-throughput SARS-CoV-2 sequencing methods from nasopharyngeal samples
54. iPSCs derived from infertile men carrying complex genetic abnormalities can generate primordial germ-like cells
55. Identification of risk loci for primary aldosteronism in genome-wide association studies
56. Author Correction: Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases
57. A high-throughput real-time PCR tissue-of-origin test to distinguish blood from lymphoblastoid cell line DNA for (epi)genomic studies
58. Publisher Correction: Heterogeneous SARS-CoV-2 humoral response after COVID-19 vaccination and/or infection in the general population
59. Heterogeneous SARS-CoV-2 humoral response after COVID-19 vaccination and/or infection in the general population
60. Novel role of the synaptic scaffold protein Dlgap4 in ventricular surface integrity and neuronal migration during cortical development
61. Publisher Correction: Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes
62. Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes
63. A postzygotic de novo NCDN mutation identified in a sporadic FTLD patient results in neurochondrin haploinsufficiency and altered FUS granule dynamics
64. Maximizing Yield from Plasma Circulating DNA Extraction
65. Genome-Wide Search for Nonadditive Allele Effects Identifies PSKH2 as Involved in the Variability of Factor V Activity.
66. Comprehensive Catalog of Variants Potentially Associated with Hidradenitis Suppurativa, Including Newly Identified Variants from a Cohort of 100 Patients.
67. Effective requesting method to detect fusion transcripts in chronic myelomonocytic leukemia RNA-seq.
68. MXD4/MAD4 Regulates Human Keratinocyte
69. Age, COVID-19-like symptoms and SARS-CoV-2 seropositivity profiles after the first wave of the pandemic in France
70. Discovery of a genetic module essential for assigning left–right asymmetry in humans and ancestral vertebrates
71. MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects
72. Analysis of shared heritability in common disorders of the brain
73. Analysis of shared heritability in common disorders of the brain.
74. Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia
75. MYLK*FLNB and DOCK1*LAMA2 gene–gene interactions associated with rheumatoid arthritis in the focal adhesion pathway
76. Genome-wide haplotype association study in imaging genetics using whole-brain sulcal openings of 16,304 UK Biobank subjects
77. Hypersociability associated with developmental delay, macrocephaly and facial dysmorphism points to CHD3 mutations
78. Brain calcifications and PCDH12 variants.
79. Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes
80. Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities
81. A novel pathogenic variant in DYNC1H1 causes various upper and lower motor neuron anomalies
82. Genomic insights into population history and biological adaptation in Oceania
83. Selective loss of a LAP1 isoform causes a muscle-specific nuclear envelopathy
84. Multiomic profiling of new-onset kidney function decline: insights from the STANISLAS study cohort with a 20-year follow-up.
85. Exome sequencing in 57 patients with self-limited focal epilepsies of childhood with typical or atypical presentations suggests novel candidate genes
86. Genotyping on blood and buccal cells using loop-mediated isothermal amplification in healthy humans
87. Contribution of rare and predicted pathogenic gene variants to childhood-onset lupus: a large, genetic panel analysis of British and French cohorts
88. Feasibility of high-throughput sequencing in clinical routine cancer care: lessons from the cancer pilot project of the France Genomic Medicine 2025 plan
89. Genome sequences of fourIxodesspecies expands understanding of tick evolution
90. De Novo Variants Found in Three Distinct Schizophrenia Populations Hit a Common Core Gene Network Related to Microtubule and Actin Cytoskeleton Gene Ontology Classes
91. A genetic association study of circulating coagulation Factor VIII and von Willebrand Factor levels
92. Definition of a Concentration and Rna Extraction Protocol for Optimal Whole Genome Sequencing of Sars-Cov-2 in Wastewater
93. The CEPH aging cohort and biobank: a valuable collection of biological samples from exceptionally long-lived French individuals and their offspring for longevity studies
94. cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing
95. Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases
96. Publisher Correction: Impact of pre- and post-variant filtration strategies on imputation
97. Region-specific expression of young small-scale duplications in the human central nervous system
98. Publisher Correction: A meta-analysis of genome-wide association studies identifies multiple longevity genes
99. Gene network and biological pathways associated with susceptibility to differentiated thyroid carcinoma
100. Impact of pre- and post-variant filtration strategies on imputation
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