8 results on '"Giurgea, Irina"'
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2. Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis
3. Molecular and cellular issues of KMT2A variants involved in Wiedemann-Steiner syndrome
4. Extended spectrum of MBD5 mutations in neurodevelopmental disorders
5. Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11
6. BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects
7. A locus for sacral/anorectal malformations maps to 6q25.3 in a 0.3 Mb interval region
8. Overgrowth and trisomy 15q26.1-qter including the IGF1 receptor gene: report of two families and review of the literature
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