37 results on '"Vincent, Marie-Claire"'
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2. Confined placental mosaicism is a diagnostic pitfall in dystrophinopathies: a clinical report
3. Vers une généralisation du diagnostic prénatal non-invasif des maladies monogéniques ? État des lieux et perspectives
4. Biallelic RFC1-expansion in a French multicentric sporadic ataxia cohort
5. Single Circulating Fetal Trophoblastic Cells Eligible for Non Invasive Prenatal Diagnosis: the Exception Rather than the Rule
6. Bayesian inference of parental allele inheritance in fetus for noninvasive prenatal diagnosis
7. RFC1 nonsense and frameshift variants cause CANVAS: clues for an unsolved pathophysiology
8. Non-invasive prenatal diagnosis of monogenic disorders: an optimized protocol using MEMO qPCR with miniSTR as internal control
9. Dissecting the Structure and Mechanism of a Complex Duplication–Triplication Rearrangement in the DMD Gene
10. Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström Syndromes
11. Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases
12. The clinical spectrum associated with a chromosome 17 short arm proximal duplication (dup 17p11.2) in three patients
13. V-Shaped Hyperpigmented Linear Lesions, Patchy Hypotrichosis, and Teeth Abnormalities in a Young Girl
14. Variable phenotype related to a novel PAX 6 mutation (IVS4+5G>C) in a family presenting congenital nystagmus and foveal hypoplasia
15. Pitfalls in Clinical Diagnosis of Female Carriers of X-linked Hypohidrotic Ectodermal Dysplasia
16. Mutations in the MTM1 Gene Implicated in X-Linked Myotubular Myopathy
17. A Broad Test Based on Fluorescent-Multiplex PCR for Noninvasive Prenatal Diagnosis of Cystic Fibrosis
18. Les dystonies primitives non liées au gène DYT1 : variabilité phénotypique et difficultés diagnostiques
19. A Broad Test Based on Fluorescent-Multiplex PCR for Noninvasive Prenatal Diagnosis of Cystic Fibrosis.
20. Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes
21. Une chorale en institut de formation des aides-soignants
22. Comprehensive oligonucleotide array-comparative genomic hybridization analysis: new insights into the molecular pathology of the DMD gene
23. Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases
24. Monozygotic twins concordant for blood karyotype, but phenotypically discordant: A case of “mosaic chimerism”
25. Subtelomeric 6p deletion: Clinical, FISH, and array CGH characterization of two cases
26. Screening for PAX6 gene mutations is consistent with haploinsufficiency as the main mechanism leading to various ocular defects
27. Cytogenetic Investigations of Infertile Men With Low Sperm Counts: A 25‐Year Experience
28. Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström Syndromes.
29. Correspondence.
30. Increased aneuploidy in spermatozoa from testicular tumour patients after chemotherapy with cisplatin, etoposide and bleomycin.
31. Mutations in the MTM1 Gene Implicated in X-Linked Myotubular Myopathy.
32. Transition from Premutation to Full Mutation in Fragile X Syndrome is Likely to be Prezygotic.
33. Subtelomeric 6p deletion: Clinical, FISH, and array CGH characterization of two cases
34. Mutations in the MTM1 Gene Implicated in X-Linked Myotubular Myopathy
35. Mutations in the MTM1 Gene Implicated in X-Linked Myotubular Myopathy
36. De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity.
37. [Towards a generalization of non-invasive prenatal diagnosis of single-gene disorders? Assesment and outlook].
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