16 results on '"Nordgren, Ann"'
Search Results
2. Clinical versus automated assessments of morphological variants in twins with and without neurodevelopmental disorders
3. Further evidence for specific IFIH1 mutation as a cause of Singleton–Merten syndrome with phenotypic heterogeneity
4. Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused byEP300mutations
5. Pathogenenic variant in the COL2A1 gene is associated with Spondyloepiphyseal dysplasia type Stanescu
6. Autosomal dominant brachyolmia in a large Swedish family: Phenotypic spectrum and natural course
7. Small mosaic deletion encompassing the snoRNAs and SNURF‐SNRPN results in an atypical Prader–Willi syndrome phenotype
8. The phenotype range of achondrogenesis 1A
9. Partial tetrasomy 14 associated with multiple malformations
10. Chimerism resulting from parthenogenetic activation and dispermic fertilization
11. Molecular and clinical characterization of patients with overlapping 10p deletions
12. Jumping translocation in a phenotypically normal male: A study of mosaicism in spermatozoa, lymphocytes, and fibroblasts
13. Occurrence of cancer in Marfan syndrome: Report of two patients with neuroblastoma and review of the literature.
14. Structural Variants in COL1A1 and COL1A2 in Osteogenesis Imperfecta.
15. Pathogenenic variant in the COL2A1 gene is associated with Spondyloepiphyseal dysplasia type Stanescu.
16. Small mosaic deletion encompassing the snoRNAs and SNURF-SNRPN results in an atypical Prader-Willi syndrome phenotype.
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