48 results on '"Bahuau, Michel"'
Search Results
2. MSH3: a confirmed predisposing gene for adenomatous polyposis.
3. Quantification of Gene Expression by Competitive RT-PCR: The hCGβ/LH/β Gene Cluster
4. A rare G6PD variant (c.383T > G; p.128Leu > Arg) with a molecular pathophysiological mechanism similar to that of G6PD A − (68Val > Met, 126Asn > Asp)
5. Practical approach for characterization of glucose 6-phosphate dehydrogenase (G6PD) deficiency in countries with population ethnically heterogeneous: Description of seven new G6PD mutants
6. Further delineation of theNTHL1associated syndrome: A report from the French Oncogenetic Consortium
7. Additional file 1 of Exome sequencing for diagnosis of congenital hemolytic anemia
8. Genetic Susceptibilities in the Association Between Maternal Exposure to Tobacco Smoke and the Risk of Nonsyndromic Oral Cleft
9. Beckwith–Wiedemann-like macroglossia and 18q23 haploinsufficiency
10. Fetal and Maternal CYP2E1 Genotypes and the Risk of Nonsyndromic Oral Clefts
11. Fetal and maternal MTHFR C677T genotype, maternal folate intake and the risk of nonsyndromic oral clefts
12. Origin of the Prevalent SFTPB Indel g.1549C > GAA (121ins2) Mutation Causing Surfactant Protein B (SP-B) Deficiency
13. Genetics of nonsyndromic cleft lip with or without cleft palate: is there a Mendelian sub-entity?
14. GDNF as a candidate modifier in a type 1 neurofibromatosis (NF1) enteric phenotype
15. Tandem duplication within the neurofibromatosis type 1 gene (NF1) and reciprocal t(15;16)(q26.3;q12.1) translocation in familial association of NF1 with intestinal neuronal dysplasia type B (IND B)
16. Further delineation of the NTHL1 associated syndrome: A report from the French Oncogenetic Consortium.
17. Expression profiles of hydrophobic surfactant proteins in children with diffuse chronic lung disease
18. Pyrimidine 5’-nucleotidase deficiency associated to a polymalformative syndrome
19. Acute rhabdomyolysis
20. A Thermolabile Aldolase A Mutant Causes Fever-Induced Recurrent Rhabdomyolysis without Hemolytic Anemia
21. Intolérance musculaire à l’effort par déficit en phosphofructokinase : apport au diagnostic du bilan métabolique musculaire (tests d’effort, spectroscopie RMN au p31)
22. Practical approach for characterization of glucose 6-phosphate dehydrogenase (G6PD) deficiency in countries with population ethnically heterogeneous: Description of seven new G6PD mutants
23. A rare G6PD variant (c.383T > G; p.128Leu > Arg) with a molecular pathophysiological mechanism similar to that of G6PD A− (68Val > Met, 126Asn > Asp)
24. Fetal and maternalMTHFR C677T genotype, maternal folate intake and the risk of nonsyndromic oral clefts
25. Origin of the prevalentSFTPBindel g.1549C > GAA (121ins2) mutation causing surfactant protein B (SP-B) deficiency
26. Expression profiles of hydrophobic surfactant proteins in children with diffuse chronic lung disease
27. Interaction between the ADH1C polymorphism and maternal alcohol intake in the risk of nonsyndromic oral clefts: An evaluation of the contribution of child and maternal genotypes
28. ORAL CLEFTS, MATERNAL EXPOSURE TO SOLVENTS AND CYP2E1 POLYMORPHISM
29. Mutation ofSFTPCin infantile pulmonary alveolar proteinosis with or without fibrosing lung disease
30. Analysis of 40 sporadic or familial neonatal and pediatric cases with severe unexplained respiratory distress: Relationship to SFTPB
31. Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes
32. Simple Fluorescent PCR Assay for Discriminating FRAXA Fully Mutated Females from Normal Homozygotes
33. Possible relationship between the van der Woude syndrome (vWS) locus and nonsyndromic cleft lip with or without cleft palate (NSCL/P)
34. Clinical Biological and Genetic Heterogeneity of the Inborn Errors of Pulmonary Surfactant Metabolism
35. Pierre Robin sequence and interstitial deletion 2q32.3-q33.2
36. 1q32-q41 microdeletion with reference to van der Woude syndrome and allied clefting entities
37. CompoundSFTPB 1549C?GAA (121ins2) and 457delC heterozygosity in severe congenital lung disease and surfactant protein B (SP-B) deficiency
38. TaqMan PCR-based Gene Dosage Assay for Predictive Testing in Individuals from a Cancer Family with INK4 Locus Haploinsufficiency
39. Novel recurrent nonsense mutation causing neurofibromatosis type 1 (NF1) in a family segregating both NF1 and Noonan syndrome
40. Exclusion of allelism of Noonan syndrome and neurofibromatosis-type 1 in a large family with Noonan syndrome-neurofibromatosis association
41. No evidence for linkage to the type 1 or type 2 neurofibromatosis loci in Noonan syndrome families
42. Biochemical screening of glucose‐6‐phosphate dehydrogenase deficiency in borderline cases: Complementary inputs of standardization enzymes and comparison with genetic status.
43. Compound SFTPB 1549C→GAA (121ins2) and 457delC heterozygosity in severe congenital lung disease and surfactant protein B (SP-B) deficiency.
44. Mutation of <TOGGLE>SFTPC</TOGGLE> in infantile pulmonary alveolar proteinosis with or without fibrosing lung disease
45. Analysis of 40 sporadic or familial neonatal and pediatric cases with severe unexplained respiratory distress: Relationship to <TOGGLE>SFTPB</TOGGLE>
46. In Vitro Infection of Human Macrophages With Human T-Cell Leukemia Virus Type 1
47. Chronic hemolytic anemia due to novel alpha-globin chain variants: critical location of the mutation within the gene sequence for a dominant effect.
48. Mutation of SFTPC in infantile pulmonary alveolar proteinosis with or without fibrosing lung disease.
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