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Andrea Superti-Furga
Andrea Superti-Furga
University of Freiburg
Biology
Genetics
Dwarfism
Bioinformatics
Microdeletion syndrome
3
Papers
73
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Refinement of the 12q14 microdeletion syndrome: primordial dwarfism and developmental delay with or without osteopoikilosis
2009
European Journal of Human Genetics
Francesca Mari
Pia Hermanns
Maria Luisa Giovannucci Uzielli
Fiorella Galluzzi
Daryl A. Scott
Brendan Lee
Alessandra Renieri
Sheila Unger
Bernhard Zabel
Andrea Superti-Furga
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Citations (31)
Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata.
2008
American Journal of Medical Genetics Part A
Michelle Nino
Claudia Matos-Miranda
Momoe Maeda
Li Chen
Judith Allanson
Christine M. Armour
Carol L. Greene
Majeeda Kamaluddeen
Debra Rita
Livija Medne
Elaine H. Zackai
Sahar Mansour
Andrea Superti-Furga
Amy Feldman Lewanda
Michael B. Bober
Kenneth N. Rosenbaum
Nancy Braverman
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Citations (34)
Spondylo‐ocular syndrome: A new entity involving the eye and spine
2006
American Journal of Medical Genetics Part A
Yasemin Alanay
Andrea Superti-Furga
Fatih Karel
Ergul Tuncbilek
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Citations (8)
1