Mariateresa Di Stazio
IRCCS Materno Infantile Burlo Garofolo(IT)
Publications by Year
Research Areas
Hearing, Cochlea, Tinnitus, Genetics, Platelet Disorders and Treatments, Blood groups and transfusion, dental development and anomalies, Biochemical Analysis and Sensing Techniques
Most-Cited Works
- → Mutations in the 5′ UTR of ANKRD26, the Ankirin Repeat Domain 26 Gene, Cause an Autosomal-Dominant Form of Inherited Thrombocytopenia, THC2(2011)218 cited
- → Nonmuscle Myosin Heavy-Chain Gene MYH14 Is Expressed in Cochlea and Mutated in Patients Affected by Autosomal Dominant Hearing Impairment (DFNA4)(2004)169 cited
- → Clinical and genetic aspects of Bernard-Soulier syndrome: searching for genotype/phenotype correlations(2010)105 cited
- → Correlation between the clinical phenotype of MYH9 -related disease and tissue distribution of class II nonmuscle myosin heavy chains(2004)79 cited
- Application of a diagnostic algorithm for inherited thrombocytopenias to 46 consecutive patients.(2004)
- → Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations(2007)62 cited
- → Genome-wide association analysis on normal hearing function identifiesPCDH20andSLC28A3as candidates for hearing function and loss(2015)47 cited
- → Systematic analysis of factors that improve homologous direct repair (HDR) efficiency in CRISPR/Cas9 technique(2021)33 cited
- → Cleft lip with or without cleft palate: implication of the heavy chain of non-muscle myosin IIA(2007)33 cited
- → TBL1Y: a new gene involved in syndromic hearing loss(2018)30 cited