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- [1] 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 Genoa, Dept Neurosci, Rehabil Ophthalmol Genet Maternal & Child Hlth, Genoa, ItalyMinetti, Carlo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, ItalyWeckhuysen, Sarah论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Antwerp, Dept Neurol, Antwerp, Belgium VIB Ctr Mol Neurol, Appl & Translat Neurogen Grp, Edegem, Belgium Univ Antwerp, Inst Born Bunge, Lab Neurogenet, Antwerp, Belgium Univ Genoa, Dept Neurosci, Rehabil Ophthalmol Genet Maternal & Child Hlth, Genoa, ItalyZara, Federico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, Unit Med Genet, Genoa, Italy Univ Genoa, Dept Neurosci, Rehabil Ophthalmol Genet Maternal & Child Hlth, Genoa, ItalyTaglialatela, Maurizio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, ItalyStriano, Pasquale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, Italy
- [2] Genotype-Phenotype Correlations in Patients With de Novo KCNQ2 Pathogenic VariantsNEUROLOGY, 2021, 96 (09) : 428 - 428不详论文数: 0 引用数: 0 h-index: 0
- [3] Pathogenic variants in CASK: Expanding the genotype-phenotype correlationsAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2022, 188 (09) : 2617 - 2626Dubbs, Holly论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Neurol, 3401 Civic Ctr Blvd, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Neurol, 3401 Civic Ctr Blvd, Philadelphia, PA 19104 USAOrtiz-Gonzalez, Xilma论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Neurol, 3401 Civic Ctr Blvd, Philadelphia, PA 19104 USA Univ Penn, Dept Neurol, Perelman Sch Med, Philadelphia, PA 19104 USA Univ Penn, Dept Pediat, Perelman Sch Med, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Neurol, 3401 Civic Ctr Blvd, Philadelphia, PA 19104 USAMarsh, Eric D.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Neurol, 3401 Civic Ctr Blvd, Philadelphia, PA 19104 USA Univ Penn, Dept Neurol, Perelman Sch Med, Philadelphia, PA 19104 USA Univ Penn, Dept Pediat, Perelman Sch Med, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Neurol, 3401 Civic Ctr Blvd, Philadelphia, PA 19104 USA
- [4] Genotype-phenotype correlations in individuals with pathogenic RERE variantsHUMAN MUTATION, 2018, 39 (05) : 666 - 675Jordan, Valerie K.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USA Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USAFregeau, Brieana论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Neurol, San Francisco, CA USA Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USAGe, Xiaoyan论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Genet, Houston, TX USA Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USAGiordano, Jessica论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Med Ctr, Inst Genom Med, New York, NY USA Columbia Univ, Med Ctr, Dept OB GYN, New York, NY USA Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USAWapner, Ronald J.论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Med Ctr, Inst Genom Med, New York, NY USA Columbia Univ, Med Ctr, Dept OB GYN, New York, NY USA Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USABalci, Tugce B.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Eastern Ontario, Dept Genet, Ottawa, ON, Canada Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USACarter, Melissa T.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Eastern Ontario, Dept Genet, Ottawa, ON, Canada Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USABernat, John A.论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Stead Family Dept Pediat, Iowa City, IA USA Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USAMoccia, Amanda N.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Sch Med, Dept Human Genet, Ann Arbor, MI USA Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USASrivastava, Anshika论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Sch Med, Dept Human Genet, Ann Arbor, MI USA Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USAMartin, Donna M.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Sch Med, Dept Human Genet, Ann Arbor, MI USA Univ Michigan, Sch Med, Dept Pediat, Ann Arbor, MI USA Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USABielas, Stephanie L.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Sch Med, Dept Human Genet, Ann Arbor, MI USA Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USAPappas, John论文数: 0 引用数: 0 h-index: 0机构: NYU, Sch Med, New York, NY USA Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USASvoboda, Melissa D.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp San Antonio, Dept Pediat, Baylor Coll Med, San Antonio, TX USA Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USARio, Marlene论文数: 0 引用数: 0 h-index: 0机构: INSERM, UMR 1163, Lab Dev Brain Disorders, Paris, France Necker Enfants Malades Univ Hosp, AP HP, Serv Genet, Paris, France Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USABoddaert, Nathalie论文数: 0 引用数: 0 h-index: 0机构: INSERM, UMR 1163, Lab Dev Brain Disorders, Paris, France Necker Enfants Malades Univ Hosp, AP HP, Pediat Radiol, Paris, France Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USACantagrel, Vincent论文数: 0 引用数: 0 h-index: 0机构: INSERM, UMR 1163, Lab Dev Brain Disorders, Paris, France Paris Descartes Sorbonne Paris Cite Univ, Imagine Inst, Paris, France Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USALewis, Andrea M.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Texas Childrens Hosp, Houston, TX 77030 USA Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USAScaglia, Fernando论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Texas Childrens Hosp, Houston, TX 77030 USA Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USAKohler, Jennefer N.论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Sch Med, Stanford, CA 94305 USA Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USABernstein, Jonathan A.论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Sch Med, Stanford, CA 94305 USA Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USADries, Annika M.论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Sch Med, Stanford, CA 94305 USA Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USARosenfeld, Jill A.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USADeFilippo, Colette论文数: 0 引用数: 0 h-index: 0机构: Lucile Packard Childrens Stanford, Stanford Childrens Hlth, Palo Alto, CA USA Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USAThorson, Willa论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miller Sch Med, Miami, FL 33136 USA Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USAYang, Yaping论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Genet, Houston, TX USA Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USASherr, Elliott H.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Neurol, San Francisco, CA USA Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USABi, Weimin论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Genet, Houston, TX USA Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USAScott, Daryl A.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Texas Childrens Hosp, Houston, TX 77030 USA Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USA
- [5] FLNC pathogenic variants in patients with cardiomyopathies: Prevalence and genotype-phenotype correlationsCLINICAL GENETICS, 2019, 96 (04) : 317 - 329论文数: 引用数: h-index:机构:De Groote, Pascal论文数: 0 引用数: 0 h-index: 0机构: CHRU Lille, Pole Cardiovasc & Pulm, Hop Albert Calmette, Lille, France Hop Univ Pitie Salpetriere Charles Foix, AP HP, UF Cardiogenet & Myogenet Mol & Cellulaire, Serv Biochim Metabol, 47-83 Bd Hop, Paris, FranceReant, Patricia论文数: 0 引用数: 0 h-index: 0机构: Univ Bordeaux, Serv Cardiol, CHU Bordeaux, Paris, France Hop Univ Pitie Salpetriere Charles Foix, AP HP, UF Cardiogenet & Myogenet Mol & Cellulaire, Serv Biochim Metabol, 47-83 Bd Hop, Paris, FranceRooryck-Thambo, Caroline论文数: 0 引用数: 0 h-index: 0机构: CHU Bordeaux, Serv Genet Med, Bordeaux, France Hop Univ Pitie Salpetriere Charles Foix, AP HP, UF Cardiogenet & Myogenet Mol & Cellulaire, Serv Biochim Metabol, 47-83 Bd Hop, Paris, FranceDupin-Deguine, Delphine论文数: 0 引用数: 0 h-index: 0机构: CHU Toulouse, Hop Purpan, Serv Genet Med, Toulouse, France CHU Toulouse, Hop Purpan, Serv Otoneurochirurg, Toulouse, France Hop Univ Pitie Salpetriere Charles Foix, AP HP, UF Cardiogenet & Myogenet Mol & Cellulaire, Serv Biochim Metabol, 47-83 Bd Hop, Paris, FranceRambaud, Caroline论文数: 0 引用数: 0 h-index: 0机构: Hop Raymond Poincare, AP HP, Serv Med Legale, Garches, France Hop Univ Pitie Salpetriere Charles Foix, AP HP, UF Cardiogenet & Myogenet Mol & Cellulaire, Serv Biochim Metabol, 47-83 Bd Hop, Paris, FranceKhraiche, Diala论文数: 0 引用数: 0 h-index: 0机构: Hop Necker Enfants Malad, AP HP, Serv Cardiol, Paris, France Hop Univ Pitie Salpetriere Charles Foix, AP HP, UF Cardiogenet & Myogenet Mol & Cellulaire, Serv Biochim Metabol, 47-83 Bd Hop, Paris, FrancePerret, Claire论文数: 0 引用数: 0 h-index: 0机构: UPMC Univ, Sorbonne Univ, INSERM, UMR S 1166, Paris, France UPMC Univ, Sorbonne Univ, ICAN, Paris, France Hop Univ Pitie Salpetriere Charles Foix, AP HP, UF Cardiogenet & Myogenet Mol & Cellulaire, Serv Biochim Metabol, 47-83 Bd Hop, Paris, FrancePruny, Jean Francois论文数: 0 引用数: 0 h-index: 0机构: Hop Univ Pitie Salpetriere, AP HP, Ctr Reference Malad Cardiaques Hereditaires, Paris, France Hop Univ Pitie Salpetriere Charles Foix, AP HP, UF Cardiogenet & Myogenet Mol & Cellulaire, Serv Biochim Metabol, 47-83 Bd Hop, Paris, FranceMathieu-Dramard, Michele论文数: 0 引用数: 0 h-index: 0机构: CHU Amiens Picardie, Serv Genet Clin, Amiens, France Hop Univ Pitie Salpetriere Charles Foix, AP HP, UF Cardiogenet & Myogenet Mol & Cellulaire, Serv Biochim Metabol, 47-83 Bd Hop, Paris, FranceGerard, Marion论文数: 0 引用数: 0 h-index: 0机构: CHU Caen, Serv Genet Med, Caen, France Hop Univ Pitie Salpetriere Charles Foix, AP HP, UF Cardiogenet & Myogenet Mol & Cellulaire, Serv Biochim Metabol, 47-83 Bd Hop, Paris, FranceTroadec, Yann论文数: 0 引用数: 0 h-index: 0机构: CHU Caen, Serv Genet Med, Caen, France Hop Univ Pitie Salpetriere Charles Foix, AP HP, UF Cardiogenet & Myogenet Mol & Cellulaire, Serv Biochim Metabol, 47-83 Bd Hop, Paris, FranceGouya, Laurent论文数: 0 引用数: 0 h-index: 0机构: CHU Bichat Claude Bernard, AP HP, Serv Genet Med, Paris, France Hop Univ Pitie Salpetriere Charles Foix, AP HP, UF Cardiogenet & Myogenet Mol & Cellulaire, Serv Biochim Metabol, 47-83 Bd Hop, Paris, FranceJeunennaitre, Xavier论文数: 0 引用数: 0 h-index: 0机构: Hop Europeen Georges Pompidou, AP HP, Serv Genet, Paris, France Hop Univ Pitie Salpetriere Charles Foix, AP HP, UF Cardiogenet & Myogenet Mol & Cellulaire, Serv Biochim Metabol, 47-83 Bd Hop, Paris, FranceVan Maldergem, Lionel论文数: 0 引用数: 0 h-index: 0机构: Univ Franche Comte, Ctr Genet Humaine, Besancon, France Hop Univ Pitie Salpetriere Charles Foix, AP HP, UF Cardiogenet & Myogenet Mol & Cellulaire, Serv Biochim Metabol, 47-83 Bd Hop, Paris, FranceHagege, Albert论文数: 0 引用数: 0 h-index: 0机构: Hop Europeen Georges Pompidou, AP HP, Serv Cardiol, Paris, France Hop Univ Pitie Salpetriere Charles Foix, AP HP, UF Cardiogenet & Myogenet Mol & Cellulaire, Serv Biochim Metabol, 47-83 Bd Hop, Paris, France论文数: 引用数: h-index:机构:Charron, Philippe论文数: 0 引用数: 0 h-index: 0机构: UPMC Univ, Sorbonne Univ, INSERM, UMR S 1166, Paris, France UPMC Univ, Sorbonne Univ, ICAN, Paris, France Hop Univ Pitie Salpetriere, AP HP, Ctr Reference Malad Cardiaques Hereditaires, Paris, France Hop Univ Pitie Salpetriere Charles Foix, AP HP, UF Cardiogenet & Myogenet Mol & Cellulaire, Serv Biochim Metabol, 47-83 Bd Hop, Paris, FranceRichard, Pascale论文数: 0 引用数: 0 h-index: 0机构: Hop Univ Pitie Salpetriere Charles Foix, AP HP, UF Cardiogenet & Myogenet Mol & Cellulaire, Serv Biochim Metabol, 47-83 Bd Hop, Paris, France UPMC Univ, Sorbonne Univ, INSERM, UMR S 1166, Paris, France UPMC Univ, Sorbonne Univ, ICAN, Paris, France Hop Univ Pitie Salpetriere, AP HP, Ctr Reference Malad Cardiaques Hereditaires, Paris, France Hop Univ Pitie Salpetriere Charles Foix, AP HP, UF Cardiogenet & Myogenet Mol & Cellulaire, Serv Biochim Metabol, 47-83 Bd Hop, Paris, France
- [6] FLNC pathogenic variants in patients with various cardiomyopathies:prevalence and genotype-phenotype correlationsEUROPEAN HEART JOURNAL, 2019, 40 : 703 - 703Ader, F.论文数: 0 引用数: 0 h-index: 0机构: Hosp Pitie Salpetriere, Paris, France Hosp Pitie Salpetriere, Paris, FranceDe Groote, P.论文数: 0 引用数: 0 h-index: 0机构: Hosp Lille, Lille, France Hosp Pitie Salpetriere, Paris, FranceReant, P.论文数: 0 引用数: 0 h-index: 0机构: Hosp Haut Leveque, Bordeaux, France Hosp Pitie Salpetriere, Paris, FranceDupin-Deguine, D.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Toulouse, Toulouse, France Hosp Pitie Salpetriere, Paris, FranceRambaud, C.论文数: 0 引用数: 0 h-index: 0机构: Hop Raymond Poincare, Garches, France Hosp Pitie Salpetriere, Paris, FranceKhraiche, D.论文数: 0 引用数: 0 h-index: 0机构: Hosp Necker, Paris, France Hosp Pitie Salpetriere, Paris, FrancePruny, J. F.论文数: 0 引用数: 0 h-index: 0机构: Hosp Pitie Salpetriere, Paris, France Hosp Pitie Salpetriere, Paris, FranceDramard, M. Mathieu论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Amiens, Amiens, France Hosp Pitie Salpetriere, Paris, FranceTroadec, Y.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Caen, Caen, France Hosp Pitie Salpetriere, Paris, FranceGouya, L.论文数: 0 引用数: 0 h-index: 0机构: Hosp Bichat Claude Bernard, Paris, France Hosp Pitie Salpetriere, Paris, FranceJeunemaitre, X.论文数: 0 引用数: 0 h-index: 0机构: Hop Europeen Georges Pompidou, Paris, France Hosp Pitie Salpetriere, Paris, FranceVan Maldergem, L.论文数: 0 引用数: 0 h-index: 0机构: Univ Besancon, Besancon, France Hosp Pitie Salpetriere, Paris, France论文数: 引用数: h-index:机构:Charron, P.论文数: 0 引用数: 0 h-index: 0机构: Hosp Pitie Salpetriere, Paris, France Hosp Pitie Salpetriere, Paris, FranceRichard, P.论文数: 0 引用数: 0 h-index: 0机构: Hosp Pitie Salpetriere, Paris, France Hosp Pitie Salpetriere, Paris, France
- [7] NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype-phenotype correlationsHUMAN MUTATION, 2019, 40 (06) : 721 - 728Carli, Diana论文数: 0 引用数: 0 h-index: 0机构: Univ Torino, Dept Publ Hlth & Pediat, Turin, Italy Univ Torino, Dept Publ Hlth & Pediat, Turin, ItalyGiorgio, Elisa论文数: 0 引用数: 0 h-index: 0机构: Univ Torino, Dept Med Sci, Via Santena 19, I-10126 Turin, Italy Univ Torino, Dept Publ Hlth & Pediat, Turin, ItalyPantaleoni, Francesca论文数: 0 引用数: 0 h-index: 0机构: Osped Pediatr Bambino Gesu IRCSS, Genet & Rare Dis Res Div, Rome, Italy Univ Torino, Dept Publ Hlth & Pediat, Turin, ItalyBruselles, Alessandro论文数: 0 引用数: 0 h-index: 0机构: Ist Super Sanita, Dept Oncol & Mol Med, Rome, Italy Univ Torino, Dept Publ Hlth & Pediat, Turin, ItalyBarresi, Sabina论文数: 0 引用数: 0 h-index: 0机构: Osped Pediatr Bambino Gesu IRCSS, Genet & Rare Dis Res Div, Rome, Italy Univ Torino, Dept Publ Hlth & Pediat, Turin, ItalyRiberi, Evelise论文数: 0 引用数: 0 h-index: 0机构: Univ Torino, Dept Publ Hlth & Pediat, Turin, Italy Univ Torino, Dept Publ Hlth & Pediat, Turin, ItalyLicciardi, Francesco论文数: 0 引用数: 0 h-index: 0机构: Univ Torino, Dept Publ Hlth & Pediat, Turin, Italy Univ Torino, Dept Publ Hlth & Pediat, Turin, ItalyGazzin, Andrea论文数: 0 引用数: 0 h-index: 0机构: Univ Torino, Dept Publ Hlth & Pediat, Turin, Italy Univ Torino, Dept Publ Hlth & Pediat, Turin, ItalyBaldassarre, Giuseppina论文数: 0 引用数: 0 h-index: 0机构: Univ Torino, Dept Publ Hlth & Pediat, Turin, Italy Univ Torino, Dept Publ Hlth & Pediat, Turin, ItalyPizzi, Simone论文数: 0 引用数: 0 h-index: 0机构: Osped Pediatr Bambino Gesu IRCSS, Genet & Rare Dis Res Div, Rome, Italy Univ Torino, Dept Publ Hlth & Pediat, Turin, ItalyNiceta, Marcello论文数: 0 引用数: 0 h-index: 0机构: Osped Pediatr Bambino Gesu IRCSS, Genet & Rare Dis Res Div, Rome, Italy Univ Torino, Dept Publ Hlth & Pediat, Turin, ItalyRadio, Francesca C.论文数: 0 引用数: 0 h-index: 0机构: Osped Pediatr Bambino Gesu IRCSS, Genet & Rare Dis Res Div, Rome, Italy Univ Torino, Dept Publ Hlth & Pediat, Turin, ItalyMolinatto, Cristina论文数: 0 引用数: 0 h-index: 0机构: Univ Torino, Dept Publ Hlth & Pediat, Turin, Italy Univ Torino, Dept Publ Hlth & Pediat, Turin, ItalyMontin, Davide论文数: 0 引用数: 0 h-index: 0机构: Univ Torino, Dept Publ Hlth & Pediat, Turin, Italy Univ Torino, Dept Publ Hlth & Pediat, Turin, ItalyCalvo, Pier L.论文数: 0 引用数: 0 h-index: 0机构: Citta Salute & Sci Univ Hosp, Pediat Gastroenterol Unit, Turin, Italy Univ Torino, Dept Publ Hlth & Pediat, Turin, ItalyCiolfi, Andrea论文数: 0 引用数: 0 h-index: 0机构: Osped Pediatr Bambino Gesu IRCSS, Genet & Rare Dis Res Div, Rome, Italy Univ Torino, Dept Publ Hlth & Pediat, Turin, ItalyFleischer, Nicole论文数: 0 引用数: 0 h-index: 0机构: FDNA Inc, Boston, MA USA Univ Torino, Dept Publ Hlth & Pediat, Turin, ItalyFerrero, Giovanni B.论文数: 0 引用数: 0 h-index: 0机构: Univ Torino, Dept Publ Hlth & Pediat, Turin, Italy Univ Torino, Dept Publ Hlth & Pediat, Turin, ItalyBrusco, Alfredo论文数: 0 引用数: 0 h-index: 0机构: Univ Torino, Dept Med Sci, Via Santena 19, I-10126 Turin, Italy Citta Salute & Sci Univ Hosp, Med Genet Unit, Turin, Italy Univ Torino, Dept Publ Hlth & Pediat, Turin, ItalyTartaglia, Marco论文数: 0 引用数: 0 h-index: 0机构: Osped Pediatr Bambino Gesu IRCSS, Genet & Rare Dis Res Div, Rome, Italy Univ Torino, Dept Publ Hlth & Pediat, Turin, Italy
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