24 results on '"Calcia, Alessandro"'
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2. Bilaterally cleft lip and bilateral thumb polydactyly with triphalangeal component in a patient with two De novo deletions of HSA 4q32 and 4q34 involving PDGFC, GRIA2, and FBXO8 genes
3. A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia
4. Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes
5. A New Case of 13q12.2q13.1 Microdeletion Syndrome Contributes to Phenotype Delineation
6. EXOME SEQUENCING REVEALS A NEW CLN5 MUTATION IN AN ADULT FORM OF CEREBELLAR ATAXIA
7. TWO NOVEL MISSENSE COL4A1 MUTATIONS AND GENETICS HETEROGENEITY IN PORENCEPHALY
8. Cover Image, Volume 170A, Number 7, July 2016
9. Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples
10. A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity
11. EXOME SEQUENCING REVEALS AN ATYPICAL CASE OF SCAR1 WITH MYOCLONIC MOVEMENTS AT ONSET
12. A NOVEL GENE FOR SPINOCEREBELLAR ATAXIA (SCA) LINKED TO CHROMOSOME 6 AND INVOLVED IN FATTY ACID METABOLISM
13. A NOVEL GENE FOR SPINOCEREBELLAR ATAXIA (SCA) LINKED TO CHROMOSOME 6 AND FATTY ACID METABOLISM
14. 790 Kb microduplication in chromosome band 17p13.1 associated with intellectual disability, afebrile seizures, dysmorphic features, diabetes, and hypothyroidism
15. A rare craniosynostosis associated with an atypical 22q11 microdeletion
16. Microduplicazione 17p13.1 in un paziente con diabete mellito2, sindrome metabolica e ritardo mentale
17. Two families with novel missense mutations in COL4A1: When diagnosis can be missed
18. Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications
19. Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH
20. ELOVL5 Mutations Cause Spinocerebellar Ataxia 38
21. Bilaterally cleft lip and bilateral thumb polydactyly with triphalangeal component in a patient with twode novodeletions of HSA 4q32 and 4q34 involvingPDGFC,GRIA2, andFBXO8genes
22. Ade novoX;8 translocation creates aPTK2-THOC2gene fusion withTHOC2expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia
23. Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications.
24. Bilaterally cleft lip and bilateral thumb polydactyly with triphalangeal component in a patient with two De novo deletions of HSA 4q32 and 4q34 involving PDGFC, GRIA 2, and FBXO 8 genes.
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