Thoracic dimples and dysmorphic features associated with a partial duplication and triplication of chromosome 12q24
Source
Clinical dysmorphology - ISSN 0962-8827-25:25 (2016) p. 167-173
Detection of a case of chronic myeloid leukaemia with deletions at the t(9;22) translocation breakpoints by a genome-wide non-invasive prenatal test
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Prenatal diagnosis - ISSN 0197-3851-36:8 (2016) p. 760-765
Positron emission tomography (PET) quantification of $GABA_{A}$ receptors in the brain of fragile X patients
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PLoS ONE - ISSN 1932-6203-10:7 (2015) p.
A CGG-Repeat Expansion Mutation in ZNF713 Causes FRA7A: Association with Autistic Spectrum Disorder in Two Families
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Human mutation - ISSN 1059-7794-35:11 (2014) p. 1295-1300
The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism
Source
American journal of medical genetics: part C: seminars in medical genetics - ISSN 1552-4868-166:3 (2014) p. 315-326