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Angela DEustacchio

21

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Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

2018
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Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

2018 Nature Genetics
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Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

2018 Nature Genetics
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Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

2017 Science & Engineering Faculty
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A technical application of quantitative next generation sequencing for chimerism evaluation

2016 Molecular Medicine Reports
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Usher syndrome: an effective sequencing approach to establish a genetic and clinical diagnosis.

2015 Hearing Research
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Identification of point mutations and large intragenic deletions in Fanconi anemia using next-generation sequencing technology.

2015 Molecular Genetics & Genomic Medicine
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A novel deletion mutation involving TMEM38B in a patient with autosomal recessive osteogenesis imperfecta

2014 Gene
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Hereditary hearing loss: a 96 gene targeted sequencing protocol reveals novel alleles in a series of Italian and Qatari patients

2014 Gene
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New Hereditary Hearing Loss (hhl) Genes/mutations Identified By High Throughput Technologies In The Qatari Population

2014
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