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- [31] Genotype-Phenotype Correlations in Patients with Hereditary AngioedemaJOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2017, 139 (02) : AB383 - AB383Maia, Luana S. M.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Ribeirao Preto Med Sch, Ribeirao Preto, Brazil Univ Sao Paulo, Ribeirao Preto Med Sch, Ribeirao Preto, BrazilLeme Ferriani, Mariana Paes论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Ribeirao Preto Med Sch, Ribeirao Preto, Brazil Univ Sao Paulo, Ribeirao Preto Med Sch, Ribeirao Preto, BrazilNunes, Fernanda Leonel论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Ribeirao Preto Med Sch, Ribeirao Preto, Brazil Univ Sao Paulo, Ribeirao Preto Med Sch, Ribeirao Preto, BrazilFerraro, Maria Fernanda论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Ribeirao Preto Med Sch, Ribeirao Preto, Brazil Univ Sao Paulo, Ribeirao Preto Med Sch, Ribeirao Preto, BrazilDias, Marina Mendonca论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Ribeirao Preto Med Sch, Ribeirao Preto, Brazil Univ Sao Paulo, Ribeirao Preto Med Sch, Ribeirao Preto, BrazilSerpa, Faradiba Sarquis论文数: 0 引用数: 0 h-index: 0机构: Escola Super Ciencias Santa Casa Misericor Vitoria, Vitoria, Brazil Univ Sao Paulo, Ribeirao Preto Med Sch, Ribeirao Preto, BrazilMotta, Antonio Abilio论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Clin Immunol & Allergy Div, Sao Paulo, Brazil Univ Sao Paulo, Ribeirao Preto Med Sch, Ribeirao Preto, BrazilValle, Solange Rodrigues论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Rio de Janeiro, Clementino Fraga Filho Univ Hosp, Rio De Janeiro, Brazil Univ Sao Paulo, Ribeirao Preto Med Sch, Ribeirao Preto, BrazilSilva, Wilson Araujo, Jr.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Ribeirao Preto Med Sch, Ribeirao Preto, Brazil Univ Sao Paulo, Ribeirao Preto Med Sch, Ribeirao Preto, BrazilAragon, Davi Casale论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Ribeirao Preto Med Sch, Ribeirao Preto, Brazil Univ Sao Paulo, Ribeirao Preto Med Sch, Ribeirao Preto, BrazilSarti, Willy论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Ribeirao Preto Med Sch, Ribeirao Preto, Brazil Univ Sao Paulo, Ribeirao Preto Med Sch, Ribeirao Preto, BrazilArruda, Luisa Karla P.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Ribeirao Preto Med Sch, Ribeirao Preto, Brazil Univ Sao Paulo, Ribeirao Preto Med Sch, Ribeirao Preto, BrazilMoreno, Adriana S.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Ribeirao Preto Med Sch, Ribeirao Preto, Brazil Univ Sao Paulo, Ribeirao Preto Med Sch, Ribeirao Preto, Brazil
- [32] Alternating Hemiplegia of Childhood: Genotype-Phenotype Correlations in a Cohort of 39 Italian PatientsFRONTIERS IN NEUROLOGY, 2021, 12Cordani, Ramona论文数: 0 引用数: 0 h-index: 0机构: Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, ItalyStagnaro, Michela论文数: 0 引用数: 0 h-index: 0机构: Ist Ricovero & Cura Carattere Sci Giannina Gaslin, Child Neuropsychiat Unit, Dept Clin & Surg Neurosci & Rehabil, Genoa, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, ItalyPisciotta, Livia论文数: 0 引用数: 0 h-index: 0机构: Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, Italy Azienda Socio Sanit Terr Fatebenefratellil Sacco, Child Neuropsychiat Unit, Milan, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, ItalyTiziano, Francesco Danilo论文数: 0 引用数: 0 h-index: 0机构: Univ Cattolica Sacro Cuore, Sect Genom Med, Dept Life Sci & Publ Hlth, Rome, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, ItalyCalevo, Maria Grazia论文数: 0 引用数: 0 h-index: 0机构: Ist Ricovero & Cura Carattere Sci Ist Giannina Ga, Epidemiol Biostat & Comm Unit, Genoa, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, ItalyNobili, Lino论文数: 0 引用数: 0 h-index: 0机构: Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, Italy Ist Ricovero & Cura Carattere Sci Giannina Gaslin, Child Neuropsychiat Unit, Dept Clin & Surg Neurosci & Rehabil, Genoa, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, ItalyDe Grandis, Elisa论文数: 0 引用数: 0 h-index: 0机构: Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, Italy Ist Ricovero & Cura Carattere Sci Giannina Gaslin, Child Neuropsychiat Unit, Dept Clin & Surg Neurosci & Rehabil, Genoa, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, Italy
- [33] Genetic Basis and Genotype-Phenotype Correlations in Han Chinese Patients with Idiopathic Dilated CardiomyopathySCIENTIFIC REPORTS, 2020, 10 (01)Zhang, Xin-Lin论文数: 0 引用数: 0 h-index: 0机构: Nanjing Univ, Dept Cardiol, Sch Med, Affiliated Drum Tower Hosp, Nanjing, Peoples R China Nanjing Univ, Dept Cardiol, Sch Med, Affiliated Drum Tower Hosp, Nanjing, Peoples R ChinaXie, Jun论文数: 0 引用数: 0 h-index: 0机构: Nanjing Univ, Dept Cardiol, Sch Med, Affiliated Drum Tower Hosp, Nanjing, Peoples R China Nanjing Univ, Dept Cardiol, Sch Med, Affiliated Drum Tower Hosp, Nanjing, Peoples R ChinaLan, Rong-Fang论文数: 0 引用数: 0 h-index: 0机构: Nanjing Univ, Dept Cardiol, Sch Med, Affiliated Drum Tower Hosp, Nanjing, Peoples R China Nanjing Univ, Dept Cardiol, Sch Med, Affiliated Drum Tower Hosp, Nanjing, Peoples R ChinaKang, Li-Na论文数: 0 引用数: 0 h-index: 0机构: Nanjing Univ, Dept Cardiol, Sch Med, Affiliated Drum Tower Hosp, Nanjing, Peoples R China Nanjing Univ, Dept Cardiol, Sch Med, Affiliated Drum Tower Hosp, Nanjing, Peoples R ChinaWang, Lian论文数: 0 引用数: 0 h-index: 0机构: Nanjing Univ, Dept Cardiol, Sch Med, Affiliated Drum Tower Hosp, Nanjing, Peoples R China Nanjing Univ, Dept Cardiol, Sch Med, Affiliated Drum Tower Hosp, Nanjing, Peoples R ChinaXu, Wei论文数: 0 引用数: 0 h-index: 0机构: Nanjing Univ, Dept Cardiol, Sch Med, Affiliated Drum Tower Hosp, Nanjing, Peoples R China Nanjing Univ, Dept Cardiol, Sch Med, Affiliated Drum Tower Hosp, Nanjing, Peoples R ChinaXu, Biao论文数: 0 引用数: 0 h-index: 0机构: Nanjing Univ, Dept Cardiol, Sch Med, Affiliated Drum Tower Hosp, Nanjing, Peoples R China Nanjing Univ, Dept Cardiol, Sch Med, Affiliated Drum Tower Hosp, Nanjing, Peoples R China
- [34] Genotype-phenotype correlations in retinoblastomaEUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 588 - 589Le Gall, Jessica论文数: 0 引用数: 0 h-index: 0机构: Inst Curie Hosp, Genet, Paris, France PSL Res Univ, Paris, France Inst Curie Hosp, Genet, Paris, FranceMahmoudi, Meriam论文数: 0 引用数: 0 h-index: 0机构: Inst Curie Hosp, Genet, Paris, France PSL Res Univ, Paris, France Inst Curie Hosp, Genet, Paris, FranceMezghani, Sarah论文数: 0 引用数: 0 h-index: 0机构: Inst Curie Hosp, Imaging, Paris, France Inst Curie Hosp, Genet, Paris, FranceBouchoucha, Yassine论文数: 0 引用数: 0 h-index: 0机构: Inst Curie Hosp, Pediat, Paris, France Inst Curie Hosp, Genet, Paris, FranceMatet, Alexandre论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Cite, Paris, France Inst Curie Hosp, Ocular Oncol, Paris, France Inst Curie Hosp, Genet, Paris, FranceCardoen, Liesbeth论文数: 0 引用数: 0 h-index: 0机构: Inst Curie Hosp, Imaging, Paris, France Inst Curie Hosp, Genet, Paris, FranceGhazelian, Hrant论文数: 0 引用数: 0 h-index: 0机构: Inst Curie Hosp, Genet, Paris, FranceCarriere, Jennifer论文数: 0 引用数: 0 h-index: 0机构: Inst Curie Hosp, Genet, Paris, France PSL Res Univ, Paris, France Inst Curie Hosp, Genet, Paris, FranceFort, Nicolas论文数: 0 引用数: 0 h-index: 0机构: Inst Curie Hosp, Genet, Paris, France PSL Res Univ, Paris, France Inst Curie Hosp, Genet, Paris, FranceGauthier-Villars, Marion论文数: 0 引用数: 0 h-index: 0机构: Inst Curie Hosp, Genet, Paris, France PSL Res Univ, Paris, France Inst Curie Hosp, Genet, Paris, FranceStoppa-Lyonnet, Dominique论文数: 0 引用数: 0 h-index: 0机构: Inst Curie Hosp, Genet, Paris, France Univ Paris Cite, Paris, France Inst Curie Hosp, Genet, Paris, FranceHua, Clement论文数: 0 引用数: 0 h-index: 0机构: PSL Res Univ, Paris, France Inst Curie Hosp, Mol Oncol Team, Paris, France Inst Curie Hosp, Genet, Paris, FranceRadvanyi, Francois论文数: 0 引用数: 0 h-index: 0机构: PSL Res Univ, Paris, France Inst Curie Hosp, Mol Oncol Team, Paris, France Inst Curie Hosp, Genet, Paris, FranceFreneaux, Paul论文数: 0 引用数: 0 h-index: 0机构: Inst Curie Hosp, Biopathol, Paris, France Inst Curie Hosp, Genet, Paris, FranceBrisse, Herve论文数: 0 引用数: 0 h-index: 0机构: Inst Curie Hosp, Imaging, Paris, France Inst Curie Hosp, Genet, Paris, FranceCassoux, Nathalie论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Cite, Paris, France Inst Curie Hosp, Ocular Oncol, Paris, France Inst Curie Hosp, Genet, Paris, FranceDoz, Francois论文数: 0 引用数: 0 h-index: 0机构: Inst Curie Hosp, Pediat, Paris, France Univ Paris Cite, Paris, France Inst Curie Hosp, Genet, Paris, FranceLisa, Golmard论文数: 0 引用数: 0 h-index: 0机构: Inst Curie Hosp, Genet, Paris, France PSL Res Univ, Paris, France Inst Curie Hosp, Genet, Paris, France
- [35] Genotype-phenotype correlations in FSHDBMC Medical Genomics, 12Nikolay Zernov论文数: 0 引用数: 0 h-index: 0机构: Research Center for Medical Genetics,School of BiomedicineMikhail Skoblov论文数: 0 引用数: 0 h-index: 0机构: Research Center for Medical Genetics,School of Biomedicine
- [36] Genotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variantsNEUROLOGY-GENETICS, 2020, 6 (06)Malerba, Federica论文数: 0 引用数: 0 h-index: 0机构: Univ Genoa, Dept Neurosci, Rehabil Ophthalmol Genet Maternal & Child Hlth, Genoa, Italy IRCCS Ist G Gaslini, Pediat Neurol & Muscular Dis Unit, Genoa, Italy Univ Genoa, Dept Neurosci, Rehabil Ophthalmol Genet Maternal & Child Hlth, Genoa, ItalyAlberini, Giulio论文数: 0 引用数: 0 h-index: 0机构: Ist Italiano Tecnol, Ctr Synapt Neurosci & Technol NSYN UniGe, Genoa, Italy Univ Genoa, Dept Expt Med, Genoa, Italy Univ Genoa, Dept Neurosci, Rehabil Ophthalmol Genet Maternal & Child Hlth, Genoa, ItalyBalagura, Ganna论文数: 0 引用数: 0 h-index: 0机构: Univ Genoa, Dept Neurosci, Rehabil Ophthalmol Genet Maternal & Child Hlth, Genoa, Italy IRCCS Ist G Gaslini, Pediat Neurol & Muscular Dis Unit, Genoa, Italy Univ Genoa, Dept Neurosci, Rehabil Ophthalmol Genet Maternal & Child Hlth, Genoa, ItalyMarchese, Francesca论文数: 0 引用数: 0 h-index: 0机构: IRCCS Ist G Gaslini, Pediat Neurol & Muscular Dis Unit, Genoa, Italy Univ Genoa, Dept Neurosci, Rehabil Ophthalmol Genet Maternal & Child Hlth, Genoa, ItalyAmadori, Elisabetta论文数: 0 引用数: 0 h-index: 0机构: Univ Genoa, Dept Neurosci, Rehabil Ophthalmol Genet Maternal & Child Hlth, Genoa, Italy IRCCS Ist G Gaslini, Pediat Neurol & Muscular Dis Unit, Genoa, Italy Univ Genoa, Dept Neurosci, Rehabil Ophthalmol Genet Maternal & Child Hlth, Genoa, ItalyRiva, Antonella论文数: 0 引用数: 0 h-index: 0机构: Univ Genoa, Dept Neurosci, Rehabil Ophthalmol Genet Maternal & Child Hlth, Genoa, Italy IRCCS Ist G Gaslini, Pediat Neurol & Muscular Dis Unit, Genoa, Italy Univ Genoa, Dept Neurosci, Rehabil Ophthalmol Genet Maternal & Child Hlth, Genoa, ItalyVari, Maria Stella论文数: 0 引用数: 0 h-index: 0机构: IRCCS Ist G Gaslini, Pediat Neurol & Muscular Dis Unit, Genoa, Italy Univ Genoa, Dept Neurosci, Rehabil Ophthalmol Genet Maternal & Child Hlth, Genoa, ItalyGennaro, Elena论文数: 0 引用数: 0 h-index: 0机构: IRCCS Ist G Gaslini, Lab Human Genet, Genoa, Italy Univ Genoa, Dept Neurosci, Rehabil Ophthalmol Genet Maternal & Child Hlth, Genoa, ItalyMadia, Francesca论文数: 0 引用数: 0 h-index: 0机构: IRCCS Ist G Gaslini, Unit Med Genet, Genoa, Italy Univ Genoa, Dept Neurosci, Rehabil Ophthalmol Genet Maternal & Child Hlth, Genoa, ItalySalpietro, Vincenzo论文数: 0 引用数: 0 h-index: 0机构: Univ Genoa, Dept Neurosci, Rehabil Ophthalmol Genet Maternal & Child Hlth, Genoa, Italy IRCCS Ist G Gaslini, Pediat Neurol & Muscular Dis Unit, Genoa, Italy Univ Genoa, Dept Neurosci, Rehabil Ophthalmol Genet Maternal & Child Hlth, Genoa, ItalyAngriman, Marco论文数: 0 引用数: 0 h-index: 0机构: Cent Hosp Bolzano, Dept Pediat, Child Neurol & Neurorehabil Unit, Bolzano, Italy Univ Genoa, Dept Neurosci, Rehabil Ophthalmol Genet Maternal & Child Hlth, Genoa, ItalyGiordano, Lucio论文数: 0 引用数: 0 h-index: 0机构: ASST Spedali Civili, Child Neurol & Psychiat Unit, Brescia, Italy Univ Genoa, Dept Neurosci, Rehabil Ophthalmol Genet Maternal & Child Hlth, Genoa, ItalyAccorsi, Patrizia论文数: 0 引用数: 0 h-index: 0机构: ASST Spedali Civili, Child Neurol & Psychiat Unit, Brescia, Italy Univ Genoa, Dept Neurosci, Rehabil Ophthalmol Genet Maternal & Child Hlth, Genoa, ItalyTrivisano, Marina论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Pediat Hosp, Dept Neurosci, IRCCS, Neurol Unit, Rome, Italy Univ Genoa, Dept Neurosci, Rehabil Ophthalmol Genet Maternal & Child Hlth, Genoa, ItalySpecchio, Nicola论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Pediat Hosp, Dept Neurosci, IRCCS, Neurol Unit, Rome, Italy Univ Genoa, Dept Neurosci, Rehabil Ophthalmol Genet Maternal & Child Hlth, Genoa, ItalyRusso, Angelo论文数: 0 引用数: 0 h-index: 0机构: IRCCS, Inst Neurol Sci Bologna, Child Neurol Unit, Bologna, Italy Univ Genoa, Dept Neurosci, Rehabil Ophthalmol Genet Maternal & Child Hlth, Genoa, ItalyGobbi, Giuseppe论文数: 0 引用数: 0 h-index: 0机构: IRCCS, Inst Neurol Sci Bologna, Child Neurol Unit, Bologna, Italy Univ Genoa, Dept Neurosci, Rehabil Ophthalmol Genet Maternal & Child Hlth, Genoa, ItalyRaviglione, Federico论文数: 0 引用数: 0 h-index: 0机构: UONPIA ASST Rhodense, Child Neuropsychiat Unit, Milan, Italy Univ Genoa, Dept Neurosci, Rehabil Ophthalmol Genet Maternal & Child Hlth, Genoa, ItalyPisano, Tiziana论文数: 0 引用数: 0 h-index: 0机构: A Meyer Childrens Hosp, Neurol Unit & Labs, Florence, Italy Univ Genoa, Dept Neurosci, Rehabil Ophthalmol Genet Maternal & Child Hlth, Genoa, ItalyMarini, Carla论文数: 0 引用数: 0 h-index: 0机构: United Hosp Ancona, Pediat Hosp G Salesi, Child Neurol & Psychiat Unit, Ancona, Italy Univ Genoa, Dept Neurosci, Rehabil Ophthalmol Genet Maternal & Child Hlth, Genoa, ItalyMancardi, Maria M.论文数: 0 引用数: 0 h-index: 0机构: IRCCS Ist G Gaslini, Child Neuropsychiat Unit, Genoa, Italy Univ Genoa, Dept Neurosci, Rehabil Ophthalmol Genet Maternal & Child Hlth, Genoa, ItalyNobili, Lino论文数: 0 引用数: 0 h-index: 0机构: IRCCS Ist G Gaslini, Child Neuropsychiat Unit, Genoa, Italy Univ Genoa, Dept Neurosci, Rehabil Ophthalmol Genet Maternal & Child Hlth, Genoa, ItalyFreri, Elena论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ist Neurol Carlo Besta, Dept Pediat Neurosci, Milan, Italy Univ Genoa, Dept Neurosci, Rehabil Ophthalmol Genet Maternal & Child Hlth, Genoa, ItalyCastellotti, Barbara论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ist Neurol Carlo Besta, Unit Genet Neurodegenerat & Metab Dis, Milan, Italy Univ Genoa, Dept Neurosci, Rehabil Ophthalmol Genet Maternal & Child Hlth, Genoa, ItalyCapovilla, Giuseppe论文数: 0 引用数: 0 h-index: 0机构: C Poma Hosp, Epilepsy Ctr, Dept Child Neuropsychiat, Mantua, Italy Fdn Poliambulanza Brescia, Brescia, Italy Univ Genoa, Dept Neurosci, Rehabil Ophthalmol Genet Maternal & Child Hlth, Genoa, ItalyCoppola, Antonietta论文数: 0 引用数: 0 h-index: 0机构: Univ Napoli Federico II, Dept Neurosci Reprod & Odontostomatol Sci, Epilepsy Ctr, Naples, Italy Univ Genoa, Dept Neurosci, Rehabil Ophthalmol Genet Maternal & Child Hlth, Genoa, ItalyVerrotti, Alberto论文数: 0 引用数: 0 h-index: 0机构: Univ Perugia, Dept Pediat, Perugia, Italy Univ Genoa, Dept Neurosci, Rehabil Ophthalmol Genet Maternal & Child Hlth, Genoa, ItalyMartelli, Paola论文数: 0 引用数: 0 h-index: 0机构: ASST Spedali Civili, Child Neurol & Psychiat Unit, Brescia, Italy Univ Genoa, Dept Neurosci, Rehabil Ophthalmol Genet Maternal & Child Hlth, Genoa, ItalyMiceli, Francesco论文数: 0 引用数: 0 h-index: 0机构: Univ Napoli Federico II, Dept Neurosci Reprod & Odontostomatol Sci, Sect Pharmacol, Naples, Italy Univ Genoa, Dept Neurosci, Rehabil Ophthalmol Genet Maternal & Child Hlth, Genoa, ItalyMaragliano, Luca论文数: 0 引用数: 0 h-index: 0机构: Ist Italiano Tecnol, Ctr Synapt Neurosci & Technol NSYN UniGe, Genoa, Italy IRCCS Osped Policlin San Martino, Genoa, Italy Polytech Univ Marche, Dept Life & Environm Sci, Ancona, Italy Univ Genoa, Dept Neurosci, Rehabil Ophthalmol Genet Maternal & Child Hlth, Genoa, ItalyBenfenati, Fabio论文数: 0 引用数: 0 h-index: 0机构: Ist Italiano Tecnol, Ctr Synapt Neurosci & Technol NSYN UniGe, Genoa, Italy IRCCS Osped Policlin San Martino, Genoa, Italy Univ Genoa, Dept Neurosci, Rehabil Ophthalmol Genet Maternal & Child Hlth, Genoa, ItalyCilio, Maria R.论文数: 0 引用数: 0 h-index: 0机构: Catholic Univ Louvain, Div Pediat Neurol, St Luc Univ Hosp, Brussels, Belgium Catholic Univ Louvain, Inst Expt & Clin Res IREC, Brussels, Belgium Univ Genoa, Dept Neurosci, Rehabil Ophthalmol Genet Maternal & Child Hlth, Genoa, ItalyJohannesen, Kathrine M.论文数: 0 引用数: 0 h-index: 0机构: Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Personalized Treatment, Dianalund, Denmark Univ Southern Denmark, Inst Reg Hlth Serv, Odense, Denmark Univ Genoa, Dept Neurosci, Rehabil Ophthalmol Genet Maternal & Child Hlth, Genoa, ItalyMoller, Rikke S.论文数: 0 引用数: 0 h-index: 0机构: Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Personalized Treatment, Dianalund, Denmark Univ Southern Denmark, Inst Reg Hlth Serv, Odense, Denmark Univ Genoa, Dept Neurosci, Rehabil Ophthalmol Genet Maternal & Child Hlth, Genoa, ItalyCeulemans, Berten论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Antwerp, Dept Neurol, Antwerp, Belgium Univ 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- [37] Genotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variantsEPILEPSIA, 2021, 62 : 219 - 220Amadori, Elisabetta论文数: 0 引用数: 0 h-index: 0机构: Univ Genoa, Giannina Gaslini Inst, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, Italy Univ Genoa, Giannina Gaslini Inst, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, ItalyMalerba, Federica论文数: 0 引用数: 0 h-index: 0机构: Univ Genoa, Giannina Gaslini Inst, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, Italy Univ Genoa, Giannina Gaslini Inst, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, ItalyAlberini, Giulio论文数: 0 引用数: 0 h-index: 0机构: Univ Genoa, Dept Expt Med, Ctr Synapt Neurosci & Technol NSYN UniGe, Ist Italiano Tecnol, Genoa, Italy Univ Genoa, Giannina Gaslini Inst, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, ItalyBalagura, Ganna论文数: 0 引用数: 0 h-index: 0机构: Univ Genoa, Giannina Gaslini Inst, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, Italy Univ 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