7 results on '"Bertok, Sara"'
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2. Microduplication in the 2p16.1p15 chromosomal region linked to developmental delay and intellectual disability
3. Diagnostic efficacy and new variants in isolated and complex autism spectrum disorder using molecular karyotyping
4. Characterization of a de novo sSMC 17 detected in a girl with developmental delay and dysmorphic features
5. Tracking of the origin of recurrent mutations of the BRCA1 and BRCA2 genes in the North-East of Italy and improved mutation analysis strategy
6. Painful micturition in a small child: an unusual clinical picture of paroxysmal extreme pain disorder
7. A SALL4 zinc finger missense mutation predicted to result in increased DNA binding affinity is associated with cranial midline defects and mild features of Okihiro syndrome
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