197 results on '"Blanchet, Patricia"'
Search Results
2. Molecular Diagnosis of Primary Cardiomyopathy in 231 Unrelated Pediatric Cases by Panel-Based Next-Generation Sequencing: A Major Focus on Five Carriers of Biallelic TNNI3 Pathogenic Variants
3. Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt
4. NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly
5. The social and emotional foundations of learning
6. Culture, éducation, écologie : une approche contemporaine de l'enseignement
7. Le temps de la fœtopathologie : des gestes nommés pour des mots partagés
8. Teaching Life Narratives in the Classroom: Strategies Based on Indigenous Traditions
9. Ashtam Ntotacinan/Come Listen to Us: Theatricalization of Life Stories for the Holistic Wellness of Indigenous Women Students.
10. Élaboration et appréciation d’un cours sur les perspectives autochtones destiné à la formation à l’enseignement : le cas d’une université québécoise
11. Report on three additional patients and genotype–phenotype correlation in SLC25A22-related disorders group
12. Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia
13. CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays
14. Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool
15. 15q11.2 microdeletion (BP1–BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: A series of 52 patients
16. Neuropathological hallmarks of antenatal mitochondrial diseases with a corpus callosum defect
17. Clinical delineation of a subtype of frontonasal dysplasia with creased nasal ridge and upper limb anomalies: Report of six unrelated patients
18. Neuropathological hallmarks of antenatal mitochondrial diseases with a corpus callosum defect.
19. Phenotypic and Cytogenetic Variety of Pure Partial Trisomy
20. Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3
21. Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt
22. Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith–Wiedemann Syndrome: Clinical Spectrum and Functional Characterization
23. La discussion lexicale : une approche dialogique pour l’analyse des relations sémantiques
24. Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials
25. Phenotypic Spectrum of Simpson–Golabi–Behmel Syndrome in a Series of 42 Cases With a Mutation in GPC3 and Review of the Literature
26. Non-USH2A Mutations in USH2 Patients†
27. Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies
28. Prevalence and timing of pregnancy termination for brain malformations
29. RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects
30. La discussion lexicale : une approche dialogique pour l’analyse des relations sémantiques
31. Clinical and Molecular Spectrum of Nonsyndromic Early‐Onset Osteoarthritis
32. De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder
33. Type I Hyperprolinemia: Genotype/Phenotype Correlations
34. Epiphyseal punctate calcifications (stippling) in complete trisomy 9
35. Prader-Willi syndrome: is there a recognizable fetal phenotype?
36. Early prenatal diagnosis of ICF syndrome by mutation detection
37. Mosaic trisomy 16 in a fetus: the complex relationship between phenotype and genetic mechanisms
38. New mutation in the platelet β3-integrin gene: implication for the diagnosis of fetomaternal alloimmunization
39. Cytogenetic and molecular study of a jumping translocation in a baby with Dandy-Walker malformation
40. Expression of FMR1, FXR1, and FXR2 Genes in Human Prenatal Tissues
41. Mosaic complete tetrasomy 21 in a fetus with complete atrioventricular septal defect and minor morphological variations
42. Juvenile rheumatoid arthritis and del(22q11) syndrome: a non-random association
43. CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays
44. Molecular epidemiology of DFNB1 deafness in France
45. Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patients
46. B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation
47. CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays
48. EDNRBmutations cause Waardenburg syndrome type II in the heterozygous state
49. EDNRBmutations cause Waardenburg syndrome type II in the heterozygous state
50. De novo and inherited variants in ZNF292underlie a neurodevelopmental disorder with features of autism spectrum disorder
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