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- [32] Design, synthesis, anticancer evaluation, molecular docking and cell cycle analysis of 3-methyl-4,7-dihydropyrazolo[1,5-a]pyrimidine derivatives as potent histone lysine demethylases (KDM) inhibitors and apoptosis inducersBIOORGANIC CHEMISTRY, 2019, 88Metwally, Nadia Hanafy论文数: 0 引用数: 0 h-index: 0机构: Cairo Univ, Fac Sci, Dept Chem, Giza, Egypt Cairo Univ, Fac Sci, Dept Chem, Giza, EgyptMohamed, Mona Said论文数: 0 引用数: 0 h-index: 0机构: Cairo Univ, Fac Sci, Dept Chem, Giza, Egypt Cairo Univ, Fac Sci, Dept Chem, Giza, EgyptRagb, Eman Ali论文数: 0 引用数: 0 h-index: 0机构: Cairo Univ, Fac Sci, Dept Chem, Giza, Egypt Cairo Univ, Fac Sci, Dept Chem, Giza, Egypt
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- [34] Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variantsEUROPEAN JOURNAL OF HUMAN GENETICS, 2022, 31 (2) : 202 - 215Leonardi, Emanuela论文数: 0 引用数: 0 h-index: 0机构: Univ Padua, Dept Womens & Childrens Hlth, Padua, Italy Pediat Res Inst, Citta Speranza, Padua, Italy Univ Padua, Dept Biomed Sci, Padua, Italy Univ Padua, Dept Womens & Childrens Hlth, Padua, ItalyAspromonte, Maria Cristina论文数: 0 引用数: 0 h-index: 0机构: Univ Padua, Dept Womens & Childrens Hlth, Padua, Italy Pediat Res Inst, Citta Speranza, Padua, Italy Univ Padua, Dept Biomed Sci, Padua, Italy Univ Padua, Dept Womens & Childrens Hlth, Padua, ItalyDrongitis, Denise论文数: 0 引用数: 0 h-index: 0机构: CNR, Inst Genet & Biophys Adriano Buzzati Traverso, Naples, Italy Univ Padua, Dept Womens & Childrens Hlth, Padua, ItalyBettella, Elisa论文数: 0 引用数: 0 h-index: 0机构: Univ Padua, Dept Womens & Childrens Hlth, Padua, Italy Pediat Res Inst, Citta Speranza, Padua, Italy Univ Padua, Dept Womens & Childrens Hlth, Padua, ItalyVerrillo, Lucia论文数: 0 引用数: 0 h-index: 0机构: CNR, Inst Genet & Biophys Adriano Buzzati Traverso, Naples, Italy Univ Padua, Dept Womens & Childrens Hlth, Padua, ItalyPolli, Roberta论文数: 0 引用数: 0 h-index: 0机构: Univ Padua, Dept Womens & Childrens Hlth, Padua, Italy Pediat Res Inst, Citta Speranza, Padua, Italy Univ Padua, Dept Womens & Childrens Hlth, Padua, ItalyMcEntagart, Meriel论文数: 0 引用数: 0 h-index: 0机构: St Georges Univ Hosp, Med Genet Unit, London, England Univ Padua, Dept Womens & Childrens Hlth, Padua, ItalyLicchetta, Laura论文数: 0 引用数: 0 h-index: 0机构: Ist Sci Neurol Bologna, IRCCS, Bologna, Italy Univ Padua, Dept Womens & Childrens Hlth, Padua, ItalyDilena, Robertino论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS CaGranda Osped Maggiore Policlin, Neurophysiopathol Unit, Milan, Italy Univ Padua, Dept Womens & Childrens Hlth, Padua, ItalyD'Arrigo, Stefano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 Padua, Dept Womens & Childrens Hlth, Padua, ItalyCiaccio, Claudia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 Padua, Dept Womens & Childrens Hlth, Padua, ItalyEsposito, Silvia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 Padua, Dept Womens & Childrens Hlth, Padua, ItalyLeuzzi, Vincenzo论文数: 0 引用数: 0 h-index: 0机构: Sapienza Univ Rome, Dept Human Neurosci, Unit Child Neurol & Psychiat, Rome, Italy Univ Padua, Dept Womens & Childrens Hlth, Padua, ItalyTorella, Annalaura论文数: 0 引用数: 0 h-index: 0机构: Univ Campania Luigi Vanvitelli, Caserta, Italy Telethon Inst Genet & Med TIGEM, Pozzuoli, Italy Univ Padua, Dept Womens & Childrens Hlth, Padua, ItalyBaldo, Demetrio论文数: 0 引用数: 0 h-index: 0机构: ULSS 2 Treviso Hosp, Unit Med Genet, Treviso, Italy Univ Padua, Dept Womens & Childrens Hlth, Padua, ItalyLonardo, Fortunato论文数: 0 引用数: 0 h-index: 0机构: AORN San Pio, Med Genet Unit, Benevento, Italy Univ Padua, Dept Womens & Childrens Hlth, Padua, ItalyBonato, Giulia论文数: 0 引用数: 0 h-index: 0机构: Univ Padua, Dept Neurosci, Movement Disorders Unit, Padua, Italy Univ Padua, Dept Womens & Childrens Hlth, Padua, ItalyPellegrin, Serena论文数: 0 引用数: 0 h-index: 0机构: Reg Hosp Bolzano, Dept Pediat, Child Neurol & Neurorehabil Unit, Bolzano, Italy Univ Padua, Dept Womens & Childrens Hlth, Padua, ItalyStanzial, Franco论文数: 0 引用数: 0 h-index: 0机构: Reg Hosp Bolzano, Dept Pediat, Genet Counseling Serv, Bolzano, Italy Univ Padua, Dept Womens & Childrens Hlth, Padua, ItalyPosmyk, Renata论文数: 0 引用数: 0 h-index: 0机构: Med Univ Bialystok, Dept Clin Genet, Bialystok, Poland Univ Padua, Dept Womens & Childrens Hlth, Padua, ItalyKaczorowska, Ewa论文数: 0 引用数: 0 h-index: 0机构: Med Univ Gdansk, Dept Biol & Med Genet, Gdansk, Poland Univ Padua, Dept Womens & Childrens Hlth, Padua, ItalyCarecchio, Miryam论文数: 0 引用数: 0 h-index: 0机构: Univ Padua, Dept Neurosci, Movement Disorders Unit, Padua, Italy Univ Padua, Dept Womens & Childrens Hlth, Padua, ItalyGos, Monika论文数: 0 引用数: 0 h-index: 0机构: Inst Mother & Child Hlth, Dept Med Genet, Dev Genet Lab, Warsaw, Poland Univ Padua, Dept Womens & Childrens Hlth, Padua, ItalyRzonca-Niewczas, Sylwia论文数: 0 引用数: 0 h-index: 0机构: Inst Mother & Child Hlth, Dept Med Genet, Dev Genet Lab, Warsaw, Poland Univ Padua, Dept Womens & Childrens Hlth, Padua, ItalyMiano, Maria Giuseppina论文数: 0 引用数: 0 h-index: 0机构: CNR, Inst Genet & Biophys Adriano Buzzati Traverso, Naples, Italy Univ Padua, Dept Womens & Childrens Hlth, Padua, ItalyMurgia, Alessandra论文数: 0 引用数: 0 h-index: 0机构: Univ Padua, Dept Womens & Childrens Hlth, Padua, Italy Pediat Res Inst, Citta Speranza, Padua, Italy Univ Padua, Dept Womens & Childrens Hlth, Padua, Italy
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- [39] Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literatureCLINICAL GENETICS, 2020, 98 (01) : 43 - 55Carmignac, Virginie论文数: 0 引用数: 0 h-index: 0机构: Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, France CHU Dijon Bourgogne, Ctr Reference Malad Genet Express Cutanee, Dijon, France Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, FranceNambot, Sophie论文数: 0 引用数: 0 h-index: 0机构: Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, France CHU Dijon Bourgogne, Hop Enfants, Ctr Genet, Dijon, France CHU Dijon Bourgogne, Hop Enfants, Ctr Reference Anomalies Dev & Syndromes Malformat, Dijon, France CHU Dijon Bourgogne, Unite Fonctionnelle Diagnost Innovat Genom Malad, Lab Genet Chromosom & Mol, Plateau Tech Biol, Dijon, France CHU Dijon, Federat Hosp Univ Med Translat & Anomalies Dev FH, Dijon, France Univ Bourgogne Franche Comte, Dijon, France Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, FranceLehalle, Daphne论文数: 0 引用数: 0 h-index: 0机构: CHU Dijon Bourgogne, Hop Enfants, Ctr Genet, Dijon, France CHU Dijon Bourgogne, Hop Enfants, Ctr Reference Anomalies Dev & Syndromes Malformat, Dijon, France Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, FranceCallier, Patrick论文数: 0 引用数: 0 h-index: 0机构: Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, France CHU Dijon Bourgogne, Unite Fonctionnelle Diagnost Innovat Genom Malad, Lab Genet Chromosom & Mol, Plateau Tech Biol, Dijon, France CHU Dijon, Federat Hosp Univ Med Translat & Anomalies Dev FH, Dijon, France Univ Bourgogne Franche Comte, Dijon, France Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, FranceMoortgat, Stephanie论文数: 0 引用数: 0 h-index: 0机构: Inst Pathol & Genet, Ctr Genet Humaine, Charleroi, Belgium Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, FranceBenoit, Valerie论文数: 0 引用数: 0 h-index: 0机构: Inst Pathol & Genet, Ctr Genet Humaine, Charleroi, Belgium Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, France论文数: 引用数: h-index:机构:Delobel, Bruno论文数: 0 引用数: 0 h-index: 0机构: Hop St Vincent De Paul, Ctr Genet Chromosom, GHICL, Lille, France Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, FranceSmol, Thomas论文数: 0 引用数: 0 h-index: 0机构: Univ Lille, Malad RAres DEv Embryonnaire & MEtab, RADEME, EA 7364, Lille, France CHU Lille, Inst Genet Med, Lille, France Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, FranceThuillier, Caroline论文数: 0 引用数: 0 h-index: 0机构: CHU Lille, Inst Genet Med, Lille, France Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, FranceZordan, Cecile论文数: 0 引用数: 0 h-index: 0机构: CHU Bordeaux, Serv Genet Clin, Bordeaux, France Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, FranceNaudion, Sophie论文数: 0 引用数: 0 h-index: 0机构: CHU Bordeaux, Serv Genet Clin, Bordeaux, France Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, FranceBienvenu, Thierry论文数: 0 引用数: 0 h-index: 0机构: INSERM, Inst Psychiat & Neurosci Paris, U1266, Paris, France Univ Paris, Paris, France Grp Univ Paris Ctr, AP HP, Lab Biochim & Genet Mol, Site Cochin, Paris, France Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, FranceTouraine, Renaud论文数: 0 引用数: 0 h-index: 0机构: CHU St Etienne, Ctr Reference Anomalies Dev, Serv Genet Clin Chromosom & Mol, St Priest En Jarez, France Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, FranceRamond, Francis论文数: 0 引用数: 0 h-index: 0机构: CHU St Etienne, Ctr Reference Anomalies Dev, Serv Genet Clin Chromosom & Mol, St Priest En Jarez, France Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, FranceZweier, Christiane论文数: 0 引用数: 0 h-index: 0机构: Friedrich Alexander Univ Erlangen Nurnberg, Inst Human Genet, Erlangen, Germany Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, FranceReis, Andre论文数: 0 引用数: 0 h-index: 0机构: Friedrich Alexander Univ Erlangen Nurnberg, Inst Human Genet, Erlangen, Germany Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, FranceKraus, Cornelia论文数: 0 引用数: 0 h-index: 0机构: Friedrich Alexander Univ Erlangen Nurnberg, Inst Human Genet, Erlangen, Germany Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, FranceNizon, Mathilde论文数: 0 引用数: 0 h-index: 0机构: CHU Nantes, Serv Genet Med, Nantes, France Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, FranceCogne, Benjamin论文数: 0 引用数: 0 h-index: 0机构: CHU Nantes, Serv Genet Med, Nantes, France Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, FranceVerloes, Alain论文数: 0 引用数: 0 h-index: 0机构: Hop Robert Debre, Dept Genet, Paris, France Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, FranceTran Mau-Them, Frederic论文数: 0 引用数: 0 h-index: 0机构: Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, France CHU Dijon Bourgogne, Unite Fonctionnelle Diagnost Innovat Genom Malad, Lab Genet Chromosom & Mol, Plateau Tech Biol, Dijon, France Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, FranceSorlin, Arthur论文数: 0 引用数: 0 h-index: 0机构: Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, France CHU Dijon Bourgogne, Hop Enfants, Ctr Genet, Dijon, France CHU Dijon Bourgogne, Hop Enfants, Ctr Reference Anomalies Dev & Syndromes Malformat, Dijon, France CHU Dijon Bourgogne, Unite Fonctionnelle Diagnost Innovat Genom Malad, Lab Genet Chromosom & Mol, Plateau Tech Biol, Dijon, France Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, FranceJouan, Thibaud论文数: 0 引用数: 0 h-index: 0机构: Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, France Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, FranceDuffourd, Yannis论文数: 0 引用数: 0 h-index: 0机构: Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, France CHU Dijon, Federat Hosp Univ Med Translat & Anomalies Dev FH, Dijon, France Univ Bourgogne Franche Comte, Dijon, France Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, FranceTisserant, Emilie论文数: 0 引用数: 0 h-index: 0机构: Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, France CHU Dijon, Federat Hosp Univ Med Translat & Anomalies Dev FH, Dijon, France Univ Bourgogne Franche Comte, Dijon, France Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, FrancePhilippe, Christophe论文数: 0 引用数: 0 h-index: 0机构: Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, France CHU Dijon Bourgogne, Unite Fonctionnelle Diagnost Innovat Genom Malad, Lab Genet Chromosom & Mol, Plateau Tech Biol, Dijon, France Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, FranceVitobello, Antonio论文数: 0 引用数: 0 h-index: 0机构: Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, France CHU Dijon Bourgogne, Unite Fonctionnelle Diagnost Innovat Genom Malad, Lab Genet Chromosom & Mol, Plateau Tech Biol, Dijon, France Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, FranceThevenon, Julien论文数: 0 引用数: 0 h-index: 0机构: Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, France CHU Dijon, Federat Hosp Univ Med Translat & Anomalies Dev FH, Dijon, France Univ Bourgogne Franche Comte, Dijon, France Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, FranceFaivre, Laurence论文数: 0 引用数: 0 h-index: 0机构: Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, France CHU Dijon Bourgogne, Unite Fonctionnelle Diagnost Innovat Genom Malad, Lab Genet Chromosom & Mol, Plateau Tech Biol, Dijon, France CHU Dijon, Federat Hosp Univ Med Translat & Anomalies Dev FH, Dijon, France Univ Bourgogne Franche Comte, Dijon, France Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, FranceThauvin-Robinet, Christel论文数: 0 引用数: 0 h-index: 0机构: Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, France CHU Dijon Bourgogne, Unite Fonctionnelle Diagnost Innovat Genom Malad, Lab Genet Chromosom & Mol, Plateau Tech Biol, Dijon, France CHU Dijon, Federat Hosp Univ Med Translat & Anomalies Dev FH, Dijon, France Univ Bourgogne Franche Comte, Dijon, France Hop Robert Debre, Dept Genet, Paris, France Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, France
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