505 results on '"Rivière , Jean-Baptiste"'
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2. Routine Clinically Detected Increased ROS1 Transcripts Are Related With ROS1 Expression by Immunohistochemistry and Associated With EGFR Mutations in Lung Adenocarcinoma
3. CANTRK: A Canadian Ring Study to Optimize Detection of NTRK Gene Fusions by Next-Generation RNA Sequencing
4. Use of patient-derived cell models for characterization of compound heterozygous hypomorphic C2CD3 variants in a patient with isolated nephronophthisis.
5. Could distal variants in ALG13 lead to atypical clinical presentation?
6. Why all MODY variants are dominantly inherited: a hypothesis
7. NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly
8. PCDH12 variants are associated with basal ganglia anomalies and exudative vitreoretinopathy
9. Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities
10. Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes
11. Continuous Mental Effort Evaluation during 3D Object Manipulation Tasks based on Brain and Physiological Signals
12. Integrating NGS-derived mutational profiling in the diagnosis of multiple lung adenocarcinomas
13. Compassionate use of everolimus for refractory epilepsy in a patient with MTOR mosaic mutation
14. POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4
15. Genome and RNA sequencing in patients with methylmalonic aciduria of unknown cause
16. LARP7 variants and further delineation of the Alazami syndrome phenotypic spectrum among primordial dwarfisms: 2 sisters
17. Defining the Genetic Landscape of Congenital Mirror Movements in 80 Affected Individuals
18. The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation
19. De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
20. Lysosomal Signaling Licenses Embryonic Stem Cell Differentiation via Inactivation of Tfe3
21. Twins with psychiatric features and a nonsense HRAS variant affecting transcript processing
22. Canadian Cardiovascular Society Position Statement on Familial Hypercholesterolemia: Update 2018
23. Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly
24. Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis
25. Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR)
26. Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility
27. Report on three additional patients and genotype–phenotype correlation in SLC25A22-related disorders group
28. Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome
29. Exome sequencing in clinical settings: preferences and experiences of parents of children with rare diseases (SEQUAPRE study)
30. B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation
31. Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses
32. Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder
33. Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing
34. P011: Variant interpretation in functionally defined patients: Lessons from methionine synthase deficiency (cblG)
35. Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis
36. Correction to: Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities
37. Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder
38. Validity and diagnostic performance of a virtual reality-based supermarket application "MEMOSHOP" for assessing episodic memory in normal and pathological aging.
39. Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder
40. Routine Clinically Detected Increased ROS1 Transcripts is Related with ROS1 Expression by Immunohistochemistry and Associated with EGFR Mutations in Lung Adenocarcinoma
41. The “extreme phenotype approach” applied to male breast cancer allows the identification of rare variants of ATR as potential breast cancer susceptibility alleles
42. Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors
43. A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability
44. Hand Postures Recognition in Large–Display VR Environments
45. Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype
46. Exome Sequencing Identifies FUS Mutations as a Cause of Essential Tremor
47. Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome
48. Mutations in DCC Cause Congenital Mirror Movements
49. Transit Defect of Potassium-Chloride Co-transporter 3 Is a Major Pathogenic Mechanism in Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum
50. KIF1A, an Axonal Transporter of Synaptic Vesicles, Is Mutated in Hereditary Sensory and Autonomic Neuropathy Type 2
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