172 results on '"Biamino, Elisa"'
Search Results
2. A novel COLEC10 mutation in a child with 3MC syndrome
3. Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG)
4. Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities
5. Matrisome and Immune Pathways Contribute to Extreme Vascular Outcomes in Williams–Beuren Syndrome
6. Intrahepatic Administration of Human Liver Stem Cells in Infants with Inherited Neonatal-Onset Hyperammonemia: A Phase I Study
7. Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome: the interconnections of epigenetic machinery disorders
8. Matrisome and Immune Pathways Contribute to Extreme Vascular Outcomes in Williams-Beuren Syndrome.
9. P212: Modifiers of arterial stenosis in Williams syndrome: Using genomics to discover drivers of vessel-specific outcomes
10. Prevention and management of hearing loss in syndromic craniosynostosis: A case series
11. Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome
12. Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders
13. Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders
14. Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders
15. Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders
16. Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire
17. PIGN encephalopathy: Characterizing the epileptology
18. DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies
19. Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders
20. A Novel 3q29 Deletion Associated With Autism, Intellectual Disability, Psychiatric Disorders, and Obesity
21. PLAYING COMPETITIVE BASKETBALL IN FACE OF LATE-ONSET POMPE DISEASE
22. Remittent hyperammonemia in congenital portosystemic shunt
23. Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of Kabuki Syndrome Patients
24. MO059COLEC10 AND 3MC SYNDROME: EXPANDING THE GENOTYPIC AND PHENOTYPIC SPECTRUM OF A VERY RARE DISEASE
25. Onset of treatment-resistant schizophrenia in an adolescent with undiagnosed autism
26. Presenting phenotype and clinical evaluation in a cohort of 22 Williams–Beuren syndrome patients
27. Progressive extreme heterotopic calcification
28. Intrahepatic Administration of Human Liver Stem Cells in Infants with Inherited Neonatal-Onset Hyperammonemia: A Phase I Study
29. Early higher dosage of alglucosidase alpha in classic Pompe disease
30. Subtelomeric FISH analysis in 76 patients with syndromic developmental delay/intellectual disability
31. Haploinsufficiency of PRR12causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities
32. Succinic semialdehyde dehydrogenase deficiency: The combination of a novel ALDH5A1 gene mutation and a missense SNP strongly affects SSADH enzyme activity and stability
33. Genetica dell'autismo
34. Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes
35. Metabolic progression to clinical phenotype in classic Fabry disease
36. An atypical form of progressive extreme heterotopic calcification in a patient with a de novo insertional translocation der(X)ins(X;2)(q26.1;p13.3)
37. Cover Image, Volume 170A, Number 7, July 2016
38. Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples
39. A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity
40. 790 Kb microduplication in chromosome band 17p13.1 associated with intellectual disability, afebrile seizures, dysmorphic features, diabetes, and hypothyroidism
41. Heterotopic bone formation not related to PHO/FOP disease: a new entity
42. A familial case of DD/ID variable psychiatric phenotype and optic atrophy due to a novel 1,5 Mb deletion on 2q29
43. Missense variants in RPH3Acause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder
44. A rare craniosynostosis associated with an atypical 22q11 microdeletion
45. Un caso di inv dup del(9p) con sex-reversal e cardiopatia congenita
46. Microduplicazione 17p13.1 in un paziente con diabete mellito2, sindrome metabolica e ritardo mentale
47. Target sequencing approach intended to discover new mutations in non-syndromic intellectual disability
48. Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability
49. Good survival outcome of metastatic SDH-deficient gastrointestinal stromal tumors harboring SDHA mutations
50. ZIC 3 mutation analysis in five familial cases of heterotaxy: identification of a new mutation
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