40 results on '"Galesi, Ornella"'
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2. Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants
3. Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.
4. Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants
5. Biallelic intragenic duplication in ADGRB3 (BAI3) gene associated with intellectual disability, cerebellar atrophy, and behavioral disorder
6. Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy
7. Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants
8. Descripción y evolución del primer caso de síndrome de Jacobsen diagnosticado en Argentina, su analogía con anemia de Fancon
9. Heterozygous Deletion of Long Noncoding RNA AK127244 Is a Susceptibility Factor for Neurodevelopmental Delay
10. Heterozygous Deletion of Long Noncoding RNA AK127244 Is a Susceptibility Factor for Neurodevelopmental Delay
11. Identification of novel mutations in L1CAM gene by a DHPLC-based assay
12. Phenotypic Spectrum of NFIA Haploinsufficiency: Two Additional Cases and Review of the Literature
13. Dyslexia and Attention Deficit Hyperactivity Disorder Associated to a De Novo 1p34.3 Microdeletion
14. Bilateral Periventricular Nodular Heterotopia and Lissencephaly in an Infant with Unbalanced t(12;17)(q24.31; p13.3) Translocation
15. Additional file 3 of Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders
16. Additional file 2 of Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders
17. Brief Report: Peculiar Evolution of Autistic Behaviors in Two Unrelated Children with Brachidactyly-Mental Retardation Syndrome
18. Definition of minimal duplicated region encompassing the XIAP and STAG2 genes in the Xq25 microduplication syndrome
19. Heterozygous Deletion of Long Noncoding RNA AK127244 Is a Susceptibility Factor for Neurodevelopmental Delay.
20. 8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature
21. Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing
22. Clinical spectrum and follow‐up in six individuals with Lamb–Shaffer syndrome (SOX5)
23. Bilateral periventricular nodular heterotopia and lissencephaly in an infant with unbalanced t(12;17)(q24.31;p13.3) translocation
24. 6q Terminal Deletion Syndrome Associated with a Distinctive EEG and Clinical Pattern: A Report of Five Cases
25. A t(4;9)(q34;p22) Translocation Associated with Partial Epilepsy, Mental Retardation, and Dysmorphism
26. Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations
27. How microsatellite analysis can be exploited for subtelomeric chromosomal rearrangement analysis in mental retardation
28. Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission
29. Clinical spectrum and follow‐up in six individuals with Lamb–Shaffer syndrome (SOX5).
30. Rare variants in the genetic background modulate the expressivity of neurodevelopmental disorders
31. Biallelic intragenic duplication in ADGRB3(BAI3) gene associated with intellectual disability, cerebellar atrophy, and behavioral disorder
32. Definition of minimal duplicated region encompassing theXIAPandSTAG2genes in the Xq25 microduplication syndrome
33. Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome
34. Partial monosomy Xq(Xq23→qter) and trisomy 4p(4p15.33→pter) in a woman with intractable focal epilepsy, borderline intellectual functioning, and dysmorphic features
35. Screening of subtelomeric rearrangements in autistic disorder: Identification of a partial trisomy of 13q34 in a patient bearing a 13q;21p translocation
36. Mutational analysis of the ATRX gene by DGGE: A powerful diagnostic approach for the ATRX syndrome
37. Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan-McDermid syndrome
38. Genetic modifiers and ascertainment drive variable expressivity of complex disorders.
39. Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants.
40. Partial monosomy Xq(Xq23 --> qter) and trisomy 4p(4p15.33 --> pter) in a woman with intractable focal epilepsy, borderline intellectual functioning, and dysmorphic features.
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