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 Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3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