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Human Mutation|February 20, 2004
A homozygous GJA1 gene mutation causes a Hallermann-Streiff/ODDD spectrum phenotypeAntonio Pizzuti, Elisabetta Flex, Rita Mingarelli, et al.
Neuromuscular Disorders : NMD|May 29, 2002
Rapid scanning of myotubularin (MTM1) gene by denaturing high-performance liquid chromatography (DHPLC)Elisabetta Flex, Alessandro De Luca, Maria Rosaria D'Apice, et al.
The Journal of Biological Chemistry|January 14, 2009
Acute lymphoblastic leukemia-associated JAK1 mutants activate the Janus kinase/STAT pathway via interleukin-9 receptor alpha homodimersTekla Hornakova, Judith Staerk, Yohan Royer, et al.
International Journal of Molecular Sciences|May 13, 2023
CRISPR/Cas9 and piggyBac Transposon-Based Conversion of a Pathogenic Biallelic TBCD Variant in a Patient-Derived iPSC Line Allows Correction of PEBAT-Related EndophenotypesValentina Muto, Federica Benigni, Valentina Magliocca, et al.
Annals of Neurology|February 26, 2003
Epilepsy with auditory features: a LGI1 gene mutation suggests a loss-of-function mechanismAntonio Pizzuti, Elisabetta Flex, Carlo Di Bonaventura, et al.
Proteins|December 21, 2006
Structural and functional effects of disease-causing amino acid substitutions affecting residues Ala72 and Glu76 of the protein tyrosine phosphatase SHP-2Gianfranco Bocchinfuso, Lorenzo Stella, Simone Martinelli, et al.
American Journal of Medical Genetics. Part A|May 21, 2013
Progressive extreme heterotopic calcificationMargherita Silengo, Claudio Defilippi, Elga Belligni, et al.
Blood|October 30, 2014
Cooperating JAK1 and JAK3 mutants increase resistance to JAK inhibitorsLorraine Springuel, Tekla Hornakova, Elisabeth Losdyck, et al.
European Journal of Medical Genetics|March 6, 2021
Enlarged spinal nerve roots in RASopathies: Report of two casesChiara Leoni, Marta Tedesco, Dario Talloa, et al.
Journal of Medical Genetics|May 21, 2013
Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndromeElisabetta Flex, Andrea Ciolfi, Viviana Caputo, et al.
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