515 results on '"Anderlid, Britt-Marie"'
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2. Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta
3. Tissue specific trisomy 15 mosaicism associated with urogenital malformations
4. Consensus recommendations on organization of care for individuals with Phelan-McDermid syndrome
5. Consensus recommendations on counselling in Phelan-McDermid syndrome, with special attention to recurrence risk and to ring chromosome 22
6. Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
7. Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
8. Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy
9. Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability
10. Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders
11. Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay
12. Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
13. High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses
14. JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome
15. Lissencephaly in an epilepsy cohort: Molecular, radiological and clinical aspects
16. Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients
17. Single cell analysis of autism patient with bi-allelic NRXN1-alpha deletion reveals skewed fate choice in neural progenitors and impaired neuronal functionality
18. X-linked Malformation Deafness: Neurodevelopmental Symptoms Are Common in Children With IP3 Malformation and Mutation in POU3F4
19. Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP
20. De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias
21. Deficiency of the Heterogeneous Nuclear Ribonucleoprotein U locus leads to delayed hindbrain neurogenesis
22. Presynaptic dysfunction in CASK-related neurodevelopmental disorders
23. From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability
24. Deficiency of the Heterogeneous Nuclear Ribonucleoprotein U locus leads to delayed hindbrain neurogenesis.
25. Extending the phenotypes associated with TRIO gene variants in a cohort of 25 patients and review of the literature
26. Consensus recommendations on organization of care for individuals with Phelan-McDermid syndrome
27. Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders
28. Extending the phenotypes associated with TRIO gene variants in a cohort of 25 patients and review of the literature
29. Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains
30. Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability
31. Polymicrogyria: epidemiology, imaging, and clinical aspects in a population-based cohort
32. First-Degree Relatives of Young Children with Autism Spectrum Disorders: Some Gender Aspects
33. ZEB2 haploinsufficient Mowat-Wilson syndrome induced pluripotent stem cells show disrupted GABAergic transcriptional regulation and function
34. Deficiency of Heterogeneous Nuclear Ribonucleoprotein U leads to delayed neurogenesis
35. Reduced immunoglobulin gene diversity in patients with Cornelia de Lange syndrome
36. DNA Methylation Signature for JARID2-Neurodevelopmental Syndrome
37. Outcome at age 7 of epilepsy presenting in the first 2 years of life. A population‐based study
38. ZEB2 haploinsufficient Mowat-Wilson syndrome induced pluripotent stem cells show disrupted GABAergic transcriptional regulation and function
39. Letter to the Editor regarding the manuscript “Lissencephaly: Update on diagnostics and clinical management” by Koenig et al. Eur J Paediatr Neurol. 2021; 35; 147-152
40. Whole‐Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation
41. X-linked Malformation and Cochlear Implantation
42. SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females
43. Copy Number Variations in Children with Brain Malformations and Refractory Epilepsy
44. Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders
45. CTNND2—a candidate gene for reading problems and mild intellectual disability
46. 3p25.3 Microdeletion of GABA Transporters SLC6A1 and SLC6A11 Results in Intellectual Disability, Epilepsy and Stereotypic Behavior
47. X-linked Malformation Deafness: Neurodevelopmental Symptoms Are Common in Children With IP3 Malformation and Mutation in POU3F4
48. Small mosaic deletion encompassing the snoRNAs and SNURF-SNRPN results in an atypical Prader–Willi syndrome phenotype
49. Different mutations in PDE4D associated with developmental disorders with mirror phenotypes
50. A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT
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