169 results on '"Eydoux, Patrice"'
Search Results
2. BMPER variants associated with a novel, attenuated subtype of diaphanospondylodysostosis
3. Using next-generation sequencing for the diagnosis of rare disorders : a family with retinitis pigmentosa and skeletal abnormalities
4. Diffuse angiopathy in Adams-Oliver syndrome associated with truncating DOCK6 mutations
5. Somatic mosaicism for the p.His1047Arg mutation in PIK3CA in a girl with mesenteric lipomatosis
6. A cryptic familial rearrangement of 11p15.5, involving both imprinting centers, in a family with a history of short stature†
7. An approach to rapid characterization of DMD copy number variants for prenatal risk assessment
8. Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation
9. Life-History Chronicle for a Patient With the Recently Described Chromosome 4q21 Microdeletion Syndrome
10. BPES with atypical premature ovarian insufficiency, and evidence of mitotic recombination, in a woman with trisomy X and a translocation t(3;11)(q22.3;q14.1)
11. Using next-generation sequencing for the diagnosis of rare disorders: a family with retinitis pigmentosa and skeletal abnormalities
12. A Novel De Novo 1.1 Mb Duplication of 17q21.33 Associated With Cognitive Impairment and Other Anomalies
13. Molecular Breakpoint Mapping of 6q11-q14 Interstitial Deletions in Seven Patients
14. A 5-Mb microdeletion at 6q16.1-q16.3 with SIM gene deletion and obesity
15. Inverted duplication with terminal deletion of 5p and no cat-like cry
16. Craniosynostosis associated with distal 5q-trisomy: Further evidence that extra copy of MSX2 gene leads to craniosynostosis
17. Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children
18. Neonatal Macrocephaly: Cerebral Primitive Neuroectodermal Tumor or Neuroblastoma as an Infrequent Cause—A Case Report and Review of the Literature
19. Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy
20. How can the genetic risks of embryo donation be minimized?: Proposed guidelines of the French Federation of CECOS (Centre dʼEtude et de Conservation des Oeufs et du Sperme)
21. Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy
22. Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation
23. Spastic paraplegia, optic atrophy, microcephaly with normal intelligence, and XY sex reversal: a new autosomal recessive syndrome?
24. Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization
25. Translocation between chromosomes 6 and 15 (45,XX,t(6;15) (q25;q11.2)) with further evidence for lack of imprinting of the insulin-like growth factor II/mannose-6-phosphate receptor in humans
26. Assessment of algorithms for high throughput detection of genomic copy number variation in oligonucleotide microarray data
27. Severe intrauterine growth retardation with increased mitomycin C sensitivity, or Nijmegen breakage syndrome?
28. Renpenning syndrome in a female.
29. De Novo Mutations in YWHAG Cause Early-Onset Epilepsy
30. De Novo Mutations in YWHAG Cause Early-Onset Epilepsy
31. Additional file 1: of Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability
32. De Novo Mutations in YWHAG Cause Early-Onset Epilepsy
33. Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy
34. Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-onset Epilepsy
35. Independent post-zygotic breaks of a dicentric chromosome result in mosaicism for an inverted duplication deletion 9p and terminal deletion 9p
36. Engraftment and Long-Term Survival at Low Burden of Leukemic Blasts from Primary MRD+ Human Bone Marrow in a Xenotransplant Setting
37. Diagnosis of Van den Ende-Gupta syndrome: Approach to the Marden-Walker-like spectrum of disorders
38. Exome Sequencing and the Management of Neurometabolic Disorders
39. Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability
40. Diagnostic Yield and Treatment Impact of Targeted Whole Exome Sequencing in Early Onset Epilepsy (P5.155)
41. Diagnostic Yield and Treatment Impact of Targeted Whole Exome Sequencing in Early Onset Epilepsy (I14.001)
42. Further Validation of the SIGMAR1 c.151+1G>T Mutation as Cause of Distal Hereditary Motor Neuropathy
43. MG-127 Diagnostic accuracy of chromosome microarray in children with epilepsy and neurological abnormalities of unknown aetiology
44. MG-115 Compound heterozygous SCN4A mutation underlies severe congenital hypotonia and biophysical alteration in the encoded voltage-gated NAV1.4 sodium channel
45. Duplication ofAKT3is associated with macrocephaly and speech delay
46. Mitochondrial Carbonic Anhydrase VA Deficiency Resulting from CA5A Alterations Presents with Hyperammonemia in Early Childhood
47. A characteristic syndrome associated with microduplication of 8q12, inclusive of CHD7
48. Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genes
49. Uniparental disomy: can SNP array data be used for diagnosis?
50. Possible differentiation of cerebral glioblastoma into pleomorphic xanthoastrocytoma: an unusual case in an infant
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