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Molecular Syndromology 2016, Vol. 7, No. 5
Editorial - Late Breaking Chromosomes
When Recessive Genes Mutate to Dominant Gene Action
Mol Syndromol (2016) 7 (5): 249–250.
https://doi.org/10.1159/000449116
Syndrome Conferences, Symposia or Workshops
Changing Paradigms in Down Syndrome: The First International Conference of the Trisomy 21 Research Society
Jean-Maurice Delabar; Bernadette Allinquant; Diana Bianchi; Tom Blumenthal; Alain Dekker; Jamie Edgin; John O'Bryan; Mara Dierssen; Marie-Claude Potier; Frances Wiseman; Faycal Guedj; Nicole Créau; Roger Reeves; Katheleen Gardiner; Jorge Busciglio
Mol Syndromol (2016) 7 (5): 251–261.
https://doi.org/10.1159/000449049
Review Article
Disorders of Transcriptional Regulation: An Emerging Category of Multiple Malformation Syndromes
Mol Syndromol (2016) 7 (5): 262–273.
https://doi.org/10.1159/000448747
The Family of Crumbs Genes and Human Disease
Mol Syndromol (2016) 7 (5): 274–281.
https://doi.org/10.1159/000448109
Original Article
PARK2 Microduplication: Clinical and Molecular Characterization of a Further Case and Review of the Literature
Topic Article Package:
Topic Article Package: IALP
Orazio Palumbo; Pietro Palumbo; Maria P. Leone; Raffaella Stallone; Teresa Palladino; Marcella Vendemiale; Stefano Palladino; Francesco Papadia; Massimo Carella; Rira Fischetto
Mol Syndromol (2016) 7 (5): 282–286.
https://doi.org/10.1159/000448852
Short Report
Distal 7q11.23 Duplication, an Emerging Microduplication Syndrome: A Case Report and Further Characterisation
Mol Syndromol (2016) 7 (5): 287–291.
https://doi.org/10.1159/000448698
Novel Insights from Clinical Practice
Language Impairment Resulting from a de novo Deletion of 7q32.1q33
Topic Article Package:
Topic Article Package: IALP
Mol Syndromol (2016) 7 (5): 292–298.
https://doi.org/10.1159/000448208
