35 results on '"Anderlid, Britt-Marie"'
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2. Outcome at age 7 of epilepsy presenting in the first 2 years of life. A population‐based study
3. Epilepsy syndromes, etiologies, and the use of next‐generation sequencing in epilepsy presenting in the first 2 years of life: A population‐based study
4. Clinical versus automated assessments of morphological variants in twins with and without neurodevelopmental disorders
5. Variable neurodevelopmental and morphological phenotypes of carriers with 12q12 duplications
6. Variable neurodevelopmental and morphological phenotypes of carriers with 12q12 duplications
7. HLA Polymorphism in Regressive and Non‐Regressive Autism: A Preliminary Study
8. Front Cover
9. Genomic screening in rare disorders: New mutations and phenotypes, highlighting ALG14 as a novel cause of severe intellectual disability
10. Benign paroxysmal torticollis of infancy does not lead to neurological sequelae
11. Toward clinical and molecular understanding of pathogenic variants in the ZBTB18 gene
12. Further evidence for specific IFIH1 mutation as a cause of Singleton–Merten syndrome with phenotypic heterogeneity
13. Smith's Recognizable Patterns of Human Deformation, 4th Edition. By Graham JM Jr, Sanchez-Lara PA. Elsevier, Philadelphia, 2016. 399 pp. ISBN: 978-0-323-29494-2.
14. Erratum
15. Rare copy number variants are common in young children with autism spectrum disorder
16. CREBBPandEP 300mutational spectrum and clinical presentations in a cohort of S wedish patients with R ubinstein– T aybi syndrome
17. Rare copy number variants are common in young children with autism spectrum disorder
18. Copy number variations in children with brain malformations and refractory epilepsy
19. 3p25.3 microdeletion of GABA transporters SLC6A1 and SLC6A11 results in intellectual disability, epilepsy and stereotypic behavior
20. Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome
21. Small mosaic deletion encompassing the snoRNAs and SNURF‐SNRPN results in an atypical Prader–Willi syndrome phenotype
22. Partial tetrasomy 14 associated with multiple malformations
23. Molecular and clinical characterization of 25 individuals with exonic deletions ofNRXN1and comprehensive review of the literature
24. Copy number variation characteristics in subpopulations of patients with autism spectrum disorders
25. Noonan Syndrome and Related Disorders - A Matter of Deregulated Ras Signalling
26. Chimerism resulting from parthenogenetic activation and dispermic fertilization
27. Molecular and clinical characterization of patients with overlapping 10p deletions
28. Genetics for pediatricians
29. Association of adenomatous polyposis coli (APC) gene polymorphisms with autism spectrum disorder (ASD)
30. Genetics for pediatricians
31. Detailed clinical description of four patients with 1.3 and 2.1 Mb chromosome imbalances derived from a familial t(12;17)(q24.33;q25.3)
32. Subtelomeric deletions of chromosome 9q: A novel microdeletion syndrome
33. Subtelomeric rearrangements detected in patients with idiopathic mental retardation
34. Detailed characterization of 12 supernumerary ring chromosomes using micro‐FISH and search for uniparental disomy
35. Maternal isodisomy of chromosome 9 with no impact on the phenotype in a woman with two isochromosomes: i(9p) and i(9q)
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