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Your search keyword '"Oltra S"' showing total 18 results

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Start Over You searched for: Author "Oltra S" Remove constraint Author: "Oltra S" Topic intellectual disability Remove constraint Topic: intellectual disability
18 results on '"Oltra S"'

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1. Germline variant in Ctcf links mental retardation to Wilms tumor predisposition.

2. High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing.

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3. De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy?

4. TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations.

6. Pure duplication of 19p13.3 in three members of a family with intellectual disability and literature review. Definition of a new microduplication syndrome.

7. A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome.

8. Phenotype profiling of patients with intellectual disability and copy number variations.

9. Duplication at Xq13.3-q21.1 with syndromic intellectual disability, a probable role for the ATRX gene.

10. Hypomethylation of the KCNQ1OT1 imprinting center of chromosome 11 associated to Sotos-like features.

11. Detection of known and novel genomic rearrangements by array based comparative genomic hybridisation: deletion of ZNF533 and duplication of CHARGE syndrome genes.

13. [Subtelomeric deletion 9qter: definition of the syndrome and parental origin in 2 patients].

15. A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation.

16. Evaluation of MLPA for the detection of cryptic subtelomeric rearrangements.

17. Localization of MRX82: a new nonsyndromic X-linked mental retardation locus to Xq24-q25 in a Basque family.