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Noemi Panzironi
Noemi Panzironi
Sapienza University of Rome
Biology
Genetics
Exome sequencing
Proband
Loss function
4
Papers
7
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0
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Heterozygous nonsense ARX mutation in a family highlights the complexity of clinical and molecular diagnosis in case of chromosomal and single gene disorder co-inheritance.
2020
Molecular Genetics & Genomic Medicine
Alice Traversa
Enrica Marchionni
Agnese Giovannetti
Maria Luce Genovesi
Noemi Panzironi
Katia Margiotti
Giulia Napoli
Francesca Piceci-Sparascio
Alessandro De Luca
Francesco Petrizzelli
Massimo Carella
Francesco Cardona
Silvia Bernardo
Lucia Manganaro
Tommaso Mazza
Antonio Pizzuti
Viviana Caputo
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MitImpact 3: modeling the residue interaction network of the Respiratory Chain subunits.
2020
Nucleic Acids Research
Stefano Castellana
Tommaso Biagini
Francesco Petrizzelli
Luca Parca
Noemi Panzironi
Viviana Caputo
Angelo L. Vescovi
Massimo Carella
Tommaso Mazza
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Citations (2)
GDF5 mutation case report and a systematic review of molecular and clinical spectrum: Expanding current knowledge on genotype-phenotype correlations
2020
Bone
Maria Luce Genovesi
Daniele Guadagnolo
Enrica Marchionni
Agnese Giovannetti
Alice Traversa
Noemi Panzironi
Silvia Bernardo
Pietro Palumbo
Francesco Petrizzelli
Massimo Carella
Tommaso Mazza
Antonio Pizzuti
Viviana Caputo
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Mechanisms of the pathogenesis of missense mutations on the KDM6A-H3 interaction in type 2 Kabuki Syndrome
2020
Computational and structural biotechnology journal
Francesco Petrizzelli
Tommaso Biagini
Alessandro Barbieri
Luca Parca
Noemi Panzironi
Stefano Castellana
Viviana Caputo
Angelo L. Vescovi
Massimo Carella
Tommaso Mazza
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Citations (3)
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