16 results on '"Annerén, Göran"'
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2. Investigation of gene dosage imbalances in patients with Noonan syndrome using multiplex ligation-dependent probe amplification analysis
3. Clinical variability of the 22q11.2 duplication syndrome
4. Severe psychomotor retardation in a boy with a supernumerary derivative chromosome resulting in partial trisomy 21 and partial trisomy 7p
5. Trisomy 4q syndrome: presentation of a new case and review of the literature
6. Caffeine metabolism and the risk of spontaneous abortion of normal karyotype fetuses
7. Generation of two human iPSC lines (UUIGPi013-A and UUIPGi014-A) from cases with Down syndrome and full trisomy for chromosome 21 (T21)
8. A maternal de novo non-reciprocal translocation results in a 6q13-q16 deletion in one offspring and a 6q13-q16 duplication in another
9. Genotype–phenotype analysis of 18q12.1-q12.2 copy number variation in autism
10. A novel microdeletion syndrome at 9q21.13 characterised by mental retardation, speech delay, epilepsy and characteristic facial features
11. De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability - further delineation of the 6q14 microdeletion syndrome and review of the literature
12. Unbalanced translocation 9;16 in two children with dysmorphic features, and severe developmental delay: Evidence of cross-over within derivative chromosome 9 in patient #1
13. Duplication 16q12.1–q22.1 characterized by array CGH in a girl with spina bifida
14. Mesenchymal Stem Cell Engraftment in Bone Following In Utero Transplantation in a Patient with Severe Osteogenesis Imperfecta.
15. Donor chimerism across full allogenic barriers achieved by in utero transplantation of fetal mesenchymal stem cells in a case of osteogenesis imperfecta
16. PC-based system for classifying dysmorphic syndromes in children
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