270 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. Searching for secondary findings: considering actionability and preserving the right not to know
17. Inference of Diagnostic Markers and Therapeutic Targets From CSF Proteomics for the Treatment of Hydrocephalus
18. Murine MPDZ‐linked hydrocephalus is caused by hyperpermeability of the choroid plexus
19. A de novo variant in ADGRL2 suggests a novel mechanism underlying the previously undescribed association of extreme microcephaly with severely reduced sulcation and rhombencephalosynapsis
20. Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use
21. MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype
22. Hydrocephalus due to multiple ependymal malformations is caused by mutations in the MPDZ gene
23. NGLY1 Deficiency: A Rare Newly Described Condition with a Typical Presentation
24. Murine MPDZ‐linked hydrocephalus is caused by hyperpermeability of the choroid plexus
25. Significant contribution of intragenic deletions to ARID1B mutation spectrum
26. A case of autoimmune polyendocrine syndrome type 1 with ocular findings and unique AIRE gene defect
27. 9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping
28. A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability
29. Molecular characterization of MPS IIIA, MPS IIIB and MPS IIIC in Tunisian patients
30. Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe
31. Prenatal Three-Dimensional Ultrasound Detection of Adducted Thumbs in X-Linked Hydrocephaly: Two Case Reports with Molecular Genetic Studies
32. SMA – OUTCOME MEASURES AND REGISTRIES
33. Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases
34. CCM molecular screening in a diagnosis context: novel unclassified variants leading to abnormal splicing and importance of large deletions
35. Pathomechanistic characterization of two exonic L1CAM variants located in trans in an obligate carrier of X-linked hydrocephalus
36. Role of cytoskeletal abnormalities in the neuropathology and pathophysiology of type I lissencephaly
37. Evidence for tangential migration disturbances in human lissencephaly resulting from a defect in LIS1, DCX and ARX genes
38. Human lissencephaly with cerebellar hypoplasia due to mutations in TUBA1A: expansion of the foetal neuropathological phenotype
39. Refining the phenotype of SINO syndrome: A comprehensive cohort report of 14 novel cases
40. Supplement to: Genetic compensation in a human genomic disorder.
41. Autistic disorder in patients with Williams-Beuren syndrome: a reconsideration of the Williams-Beuren syndrome phenotype.
42. Molecular evaluation of foetuses with holoprosencephaly shows high incidence of microdeletions in the HPE genes
43. Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders
44. Les retards mentaux d’origine génétique
45. Homozygous SMN1 Exons 1–6 Deletion: Pitfalls in Genetic Counseling and General Recommendations for Spinal Muscular Atrophy Molecular Diagnosis
46. SMA: REGISTRIES, BIOMARKERS & OUTCOME MEASURES
47. 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
48. Clinical and molecular delineation of the 17q21.31 microdeletion syndrome
49. SUN-040 Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED) Syndrome: Prospective Screening of Asplenism and Pneumonitis in a Cohort of 25 Patients
50. A cryopyrin-associated periodic syndrome with joint destruction
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