331 results on '"Blouin, Jean-Louis"'
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2. Atypical diabetes with spontaneous remission associated with systemic lupus erythematosus in an adolescent girl of African ancestry, a case report
3. A peripheral signature of Alzheimer’s disease featuring microbiota-gut-brain axis markers
4. Loss of Nexmif results in the expression of phenotypic variability and loss of genomic integrity
5. Enhancing fetal outcomes in GCK-MODY pregnancies: a precision medicine approach via non-invasive prenatal GCK mutation detection.
6. Association of AD risk factors with plasma GFAP levels in a memory clinic population
7. Recurrent spontaneous pneumothorax in an NF1 patient with a novel causative variant: broadening genotype–phenotype correlations.
8. Noninvasive prenatal diagnosis of Mendelian disorders for consanguineous couples by relative genotype dosage
9. Phéochromocytome pendant la grossesse
10. Phäochromozytom während der Schwangerschaft
11. Mutations in the DNAH11 (Axonemal Heavy Chain Dynein type 11) Gene Cause One Form of Situs Inversus Totalis and Most Likely Primary Ciliary Dyskinesia
12. Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother
13. Co-segregation analysis and functional trial in vivo of candidate genes for monogenic diabetes
14. Additional file 3 of A peripheral signature of Alzheimer’s disease featuring microbiota-gut-brain axis markers
15. Additional file 6 of A peripheral signature of Alzheimer’s disease featuring microbiota-gut-brain axis markers
16. Additional file 5 of A peripheral signature of Alzheimer’s disease featuring microbiota-gut-brain axis markers
17. Additional file 2 of A peripheral signature of Alzheimer’s disease featuring microbiota-gut-brain axis markers
18. Additional file 4 of A peripheral signature of Alzheimer’s disease featuring microbiota-gut-brain axis markers
19. Additional file 1 of A peripheral signature of Alzheimer’s disease featuring microbiota-gut-brain axis markers
20. Atypical diabetes with spontaneous remission associated with systemic lupus erythematosus in an adolescent girl of African ancestry, a case report
21. Atypical familial diabetes associated with a novel NEUROD1 nonsense variant
22. Molecular characterization of pathogenic OTOA gene conversions in hearing loss patients
23. Atypical familial diabetes associated with a novel NEUROD1 nonsense variant.
24. Precision medicine in diabetes: A non‐invasive prenatal diagnostic test for the determination of fetal glucokinase mutations
25. Diabetes and immune thrombocytopenic purpura: a new association with good response to anti-CD20 therapy
26. Critical Role of the D21S55 Region on Chromosome 21 in the Pathogenesis of Down Syndrome
27. Bi‐allelic loss of ERGIC1 causes relatively mild arthrogryposis
28. Genetic variability of the μ-opioid receptor influences intrathecal fentanyl analgesia requirements in laboring women
29. Beta-2 adrenoceptor genotype and progress in term and late preterm active labor
30. Atypical familial diabetes associated with a novel NEUROD1nonsense variant
31. Immune deficiency, autoimmune disease and intellectual disability: A pleiotropic disorder caused by biallelic variants in theTPP2gene
32. Double frameshift mutations in APC and MSH2 in the same individual
33. Contamination of Amniotic Fluid With Maternal Balanced t(11;22) Translocation Cells
34. Genome scan meta-analysis of schizophrenia and bipolar disorder, Part III: bipolar disorder
35. Genome scan meta-analysis of schizophrenia and bipolar disorder, Part II: schizophrenia
36. Precision medicine in diabetes: A non‐invasive prenatal diagnostic test for the determination of fetal glucokinase mutations.
37. Static Respiratory Cilia Associated with Mutations in Dnahc11/DNAH11: A Mouse Model of PCD‡
38. Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practice
39. Molecular characterization of pathogenic OTOA gene conversions in hearing loss patients
40. Systematic Genetic Study of Youth With Diabetes in a Single Country Reveals the Prevalence of Diabetes Subtypes, Novel Candidate Genes, and Response to Precision Therapy
41. Isolation of the human BACH1 transcription regulator gene, which maps to chromosome 21q22.1
42. X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3
43. Monozygotic Twins Discordant for Trisomy 21 and Maternal 21q Inheritance: A Complex Series of Events
44. DNAI1 Mutations Explain Only 2% of Primary Ciliary Dykinesia
45. Candidate Gene Analysis in Three Families With Acilia Syndrome
46. A DNA Resequencing Array for Pathogenic Mutation Detection in Hypertrophic Cardiomyopathy
47. Primary Ciliary Dyskinesia Associated With Normal Axoneme Ultrastructure Is Caused by DNAH11 Mutations
48. YAC and cosmid FISH mapping of an unbalanced chromosomal translocation causing partial trisomy 21 and Down syndrome
49. DNAH5 Mutations Are a Common Cause of Primary Ciliary Dyskinesia with Outer Dynein Arm Defects
50. Split-Hand/Split-Foot Malformation 3 (SHFM3) at 10q24, Development of Rapid Diagnostic Methods and Gene Expression From the Region
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