274 results on '"Steffann, Julie"'
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2. Knowledge, acceptability and personal attitude toward pre-implantation 1 genetic testing (PGT) and pre-natal diagnosis (PND) for females carrying BRCA pathogenic variant according to fertility preservation experience
3. PGT and deferred embryo transfer: Is blastocyst biopsy more effective than cleaved embryo biopsy?
4. ISSCR Guidelines for Stem Cell Research and Clinical Translation: The 2021 update.
5. Preimplantation genetic testing in patients with genetic susceptibility to cancer
6. Familial recurrence of incontinentia pigmenti due to de novo pathogenic variants in the IKBKG gene
7. Second biopsy for embryos with inconclusive results after preimplantation genetic testing: Impact on pregnancy outcomes
8. Primary mitochondrial disorders and mimics: Insights from a large French cohort.
9. A retrospective study on the efficacy of prenatal diagnosis for pregnancies at risk of mitochondrial DNA disorders
10. Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival
11. Clinical utility gene card: for incontinentia pigmenti
12. Pitfalls in molecular diagnosis of Friedreich ataxia
13. Faisabilité et incertitude du diagnostic préimplantatoire appliqué aux mutations de l'ADN mitochondrial
14. Lessons from two series by physicians and caregivers’ self-reported data, and DNA methylation profile in DDX3X-Related Disorders
15. A shared pattern of altered gene expression in human embryos affected by mitochondrial diseases
16. Tubulin mutations in human neurodevelopmental disorders
17. Novel ELAC2 Mutations in Individuals Presenting with Variably Severe Neurological Disease in the Presence or Absence of Cardiomyopathy
18. Preimplantation genetic testing for mitochondrial DNA mutation: ovarian response to stimulation, outcomes and follow-up
19. Bothnian Palmoplantar Keratoderma: Further Delineation of the Associated Phenotype
20. Should Preimplantation Genetic Testing (PGT) Systematically Be Proposed to BRCA Pathogenic Variant Carriers?
21. Recurrent KIF2A mutations are responsible for classic lissencephaly
22. Broadening the phenotypic spectrum of TUBA1A tubulinopathy to syndromic arthrogryposis multiplex congenita
23. Protocole national de diagnostic et de soins (PNDS) de l’aniridie congénitale : synthèse pour le médecin traitant
24. Biallelic IARS2 mutations presenting as sideroblastic anemia
25. Preimplantation genetic testing in patients with genetic susceptibility to cancer
26. A novel recurrent LIS1 splice site mutation in classic lissencephaly
27. Cyclic fertilin-derived peptide stimulates in vitro human embryo development
28. Lack of interaction between NEMO and SHARPIN impairs linear ubiquitination and NF-κB activation and leads to incontinentia pigmenti
29. Kératodermie palmoplantaire aquagénique : le type Botnien par mutation du gène AQP5 ?
30. 243rd ENMC international workshop: Developing guidelines for management of reproductive options for families with maternally inherited mtDNA disease, Amsterdam, the Netherlands, 22–24 March 2019
31. Le diagnostic pré-implantatoire couplé au typage HLA : l’expérience française
32. Diagnostic pré-implantatoire : dix ans d’expérience en région parisienne : impasse actuelle et solutions à venir
33. A fertilin-derived peptide improves in vitro maturation and ploidy of human oocytes
34. OTC deficiency in females: Phenotype‐genotype correlation based on a 130‐family cohort
35. Preimplantation genetic diagnosis: State of the art
36. Mitochondrial DNA mutations do not impact early human embryonic development
37. Insight into IKBKG/NEMO Locus: Report of New Mutations and Complex Genomic Rearrangements Leading to Incontinentia Pigmenti Disease
38. Therapies ovocytaires mitochondriales.
39. Biallelic IARS2 mutations presenting as sideroblastic anemia
40. Intrafamilial Variability in LPIN1-Related Rhabdomyolysis
41. Novel FARS2 mutations in patients with non-fatal early onset encephalopathy with or without epilepsy
42. Five years’ experience of preimplantation genetic diagnosis in the Parisian Center: outcome of the first 441 started cycles
43. Single cell co-amplification of polymorphic markers for the indirect preimplantation genetic diagnosis of hemophilia A, X-linked adrenoleukodystrophy, X-linked hydrocephalus and incontinentia pigmenti loci on Xq28
44. Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival
45. Improving post-natal detection of mitochondrial DNA mutations
46. Hydrothorax in fetal cases of Opitz G/BBB diagnosis: Extending the phenotype?
47. Fetal DNA in maternal serum: does it persist after pregnancy?
48. Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt −1) in the NDUFS4 gene in Leigh syndrome
49. Mutation dependance of the mitochondrial DNA copy number in the first stages of human embryogenesis
50. CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders
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