62 results on '"Saugier-Veber, P."'
Search Results
2. Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly
3. Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders
4. Assessment of parental mosaicism rates in neurodevelopmental disorders caused by apparent de novo pathogenic variants using deep sequencing
5. ARID1B-related disorder in 87 adults: Natural history and self-sustainability
6. High diagnostic potential of short and long read genome sequencing with transcriptome analysis in exome-negative developmental disorders
7. ARID1B-related disorder in 87 adults: Natural history and self-sustainability
8. Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance
9. Retrotransposon insertion as a novel mutational cause of spinal muscular atrophy
10. Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance
11. MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects
12. Neuropathological hallmarks of fetal hydrocephalus linked to CCDC88C pathogenic variants
13. X-linked partial corpus callosum agenesis with mild intellectual disability: identification of a novel L1CAM pathogenic variant
14. Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use
15. Neuropathological hallmarks of fetal hydrocephalus linked to CCDC88C pathogenic variants
16. Inference of Diagnostic Markers and Therapeutic Targets From CSF Proteomics for the Treatment of Hydrocephalus
17. Murine MPDZ‐linked hydrocephalus is caused by hyperpermeability of the choroid plexus
18. A de novo variant in ADGRL2 suggests a novel mechanism underlying the previously undescribed association of extreme microcephaly with severely reduced sulcation and rhombencephalosynapsis
19. Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use
20. MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype
21. Hydrocephalus due to multiple ependymal malformations is caused by mutations in the MPDZ gene
22. NGLY1 Deficiency: A Rare Newly Described Condition with a Typical Presentation
23. Murine MPDZ‐linked hydrocephalus is caused by hyperpermeability of the choroid plexus
24. A case of autoimmune polyendocrine syndrome type 1 with ocular findings and unique AIRE gene defect
25. 9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping
26. A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability
27. Molecular characterization of MPS IIIA, MPS IIIB and MPS IIIC in Tunisian patients
28. Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe
29. Prenatal Three-Dimensional Ultrasound Detection of Adducted Thumbs in X-Linked Hydrocephaly: Two Case Reports with Molecular Genetic Studies
30. Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases
31. CCM molecular screening in a diagnosis context: novel unclassified variants leading to abnormal splicing and importance of large deletions
32. Pathomechanistic characterization of two exonic L1CAM variants located in trans in an obligate carrier of X-linked hydrocephalus
33. Evidence for tangential migration disturbances in human lissencephaly resulting from a defect in LIS1, DCX and ARX genes
34. Supplement to: Genetic compensation in a human genomic disorder.
35. Autistic disorder in patients with Williams-Beuren syndrome: a reconsideration of the Williams-Beuren syndrome phenotype.
36. Molecular evaluation of foetuses with holoprosencephaly shows high incidence of microdeletions in the HPE genes
37. Les retards mentaux d’origine génétique
38. Homozygous SMN1 Exons 1–6 Deletion: Pitfalls in Genetic Counseling and General Recommendations for Spinal Muscular Atrophy Molecular Diagnosis
39. MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations
40. Clinical and molecular delineation of the 17q21.31 microdeletion syndrome
41. A cryopyrin-associated periodic syndrome with joint destruction
42. Golli-MBP Copy Number Analysis by FISH, QMPSF and MAPH in 195 Patients with Hypomyelinating Leukodystrophies
43. Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformations
44. Bickers-Adams phenotype caused by disruptive brain damage
45. Early diagnosis of a recurrence of X-linked hydrocephalus by detection of adductus thumbs in a male fetus at the first trimester of the pregnancy
46. Detection of heterozygous SMN1 deletions in SMA families using a simple fluorescent multiplex PCR method
47. Neurological presentation of a congenital disorder of glycosylation CDG Ia: implications for diagnosis and genetic counseling
48. Retards mentaux d’origine génétique
49. Prenatal diagnosis of hydrocephalus-stenosis of the aqueduct of Sylvius by ultrasound in the first trimester of pregnancy. Report of two cases.
50. Identification of a novel mutation in the autoimmune regulator (AIRE-1) gene in a French family with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.
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