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- [41] New Insights in 9q21.13 Microdeletion Syndrome: Genotype-Phenotype Correlation of 28 PatientsGENES, 2023, 14 (05)De Falco, Alessandro论文数: 0 引用数: 0 h-index: 0机构: AOU Federico II, UOC Genet Med, I-80131 Naples, Italy Univ Napoli Federico II, Dipartimento Med Mol Biotecnol Med, I-80136 Naples, Italy Univ Federico II, Dept Mol Med & Med Biotechnol, I-80131 Naples, Italy AOU Federico II, UOC Genet Med, I-80131 Naples, ItalyIolascon, Achille论文数: 0 引用数: 0 h-index: 0机构: AOU Federico II, UOC Genet Med, I-80131 Naples, Italy Univ Napoli Federico II, Dipartimento Med Mol Biotecnol Med, I-80136 Naples, Italy Univ Federico II, Dept Mol Med & Med Biotechnol, I-80131 Naples, Italy CEINGE Biotecnol Avanzate, I-80145 Naples, Italy AOU Federico II, UOC Genet Med, I-80131 Naples, ItalyAscione, Flora论文数: 0 引用数: 0 h-index: 0机构: A O R N Antonio Cardarelli, Hosp Directorate, I-80100 Naples, Italy AOU Federico II, UOC Genet Med, I-80131 Naples, ItalyPiscopo, Carmelo论文数: 0 引用数: 0 h-index: 0机构: A O R N Antonio Cardarelli, Med & Lab Genet Unit, I-80100 Naples, Italy AOU Federico II, UOC Genet Med, I-80131 Naples, Italy
- [42] Genotype-phenotype correlation of novel KV7.1 mutations identified in patients with Long QT syndromeEUROPEAN HEART JOURNAL, 2017, 38 : 1241 - 1242Refaat, M.论文数: 0 引用数: 0 h-index: 0机构: Amer Univ Beirut, Med Ctr, Internal Med, Beirut, Lebanon Amer Univ Beirut, Med Ctr, Internal Med, Beirut, LebanonBomholtz, S.论文数: 0 引用数: 0 h-index: 0机构: Univ Copenhagen, Copenhagen, Denmark Amer Univ Beirut, Med Ctr, Internal Med, Beirut, LebanonSteffensen, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Copenhagen, Copenhagen, Denmark Amer Univ Beirut, Med Ctr, Internal Med, Beirut, LebanonDavid, J.论文数: 0 引用数: 0 h-index: 0机构: Univ Copenhagen, Copenhagen, Denmark Amer Univ Beirut, Med Ctr, Internal Med, Beirut, LebanonEspinosa, K.论文数: 0 引用数: 0 h-index: 0机构: Univ Copenhagen, Copenhagen, Denmark Amer Univ Beirut, Med Ctr, Internal Med, Beirut, LebanonBentzen, B.论文数: 0 引用数: 0 h-index: 0机构: Univ Copenhagen, Copenhagen, Denmark Amer Univ Beirut, Med Ctr, Internal Med, Beirut, LebanonNussbaum, R.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, San Francisco, CA 94143 USA Amer Univ Beirut, Med Ctr, Internal Med, Beirut, LebanonWojciak, J.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, San Francisco, CA 94143 USA Amer Univ Beirut, Med Ctr, Internal Med, Beirut, LebanonScheinman, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, San Francisco, CA 94143 USA Amer Univ Beirut, Med Ctr, Internal Med, Beirut, LebanonSchmitt, N.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, San Francisco, CA 94143 USA Amer Univ Beirut, Med Ctr, Internal Med, Beirut, Lebanon
- [43] Corneal findings in patients with Loeys-Dietz syndrome type 4: a genotype-phenotype correlation studyCANADIAN JOURNAL OF OPHTHALMOLOGY-JOURNAL CANADIEN D OPHTALMOLOGIE, 2020, 55 (04): : E123 - E124Benson, Matthew D.论文数: 0 引用数: 0 h-index: 0
- [44] Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patientsJOURNAL OF MEDICAL GENETICS, 2023, 60 (07) : 644 - 654Martinez-Cayuelas, Elena论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Fdn Jimenez Diaz, Dept Pediat, Madrid, Spain Hosp Univ Fdn Jimenez Diaz, Dept Pediat, Madrid, SpainBlanco-Kelly, Fiona论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Fdn Jimenez Diaz IIS FJD, Dept Genet & Genom, Madrid 28040, Spain Inst Salud Carlos III, Ctr Invest Biomed Red Enfermedades Raras, Madrid, Spain Hosp Univ Fdn Jimenez Diaz, Dept Pediat, Madrid, SpainLopez-Grondona, Fermina论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Fdn Jimenez Diaz IIS FJD, Dept Genet & Genom, Madrid 28040, Spain Hosp Univ Fdn Jimenez Diaz, Dept Pediat, Madrid, SpainSwafiri, Saoud Tahsin论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Fdn Jimenez Diaz IIS FJD, Dept Genet & Genom, Madrid 28040, Spain Inst Salud Carlos III, Ctr Invest Biomed Red Enfermedades Raras, Madrid, Spain Hosp Univ Fdn Jimenez Diaz, Dept Pediat, Madrid, SpainLopez-Rodriguez, Rosario论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Fdn Jimenez Diaz IIS FJD, Dept Genet & Genom, Madrid 28040, Spain Univ San Pablo CEU, Sch Pharm, CEU Univ, Madrid, Spain Hosp Univ Fdn Jimenez Diaz, Dept Pediat, Madrid, SpainLosada-Del Pozo, Rebeca论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Fdn Jimenez Diaz, Dept Pediat, Madrid, Spain Hosp Univ Fdn Jimenez Diaz, Dept Pediat, Madrid, SpainMahillo-Fernandez, Ignacio论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Fdn Jimenez Diaz IIS FJD, Dept Stat, Madrid, Spain Hosp Univ Fdn Jimenez Diaz, Dept Pediat, Madrid, SpainMoreno, Beatriz论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Fdn Jimenez Diaz, Dept Pediat, Madrid, Spain Hosp Univ Fdn Jimenez Diaz, Dept Pediat, Madrid, SpainRodrigo-Moreno, Maria论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Fdn Jimenez Diaz, Dept Pediat, Madrid, Spain Hosp Univ Fdn Jimenez Diaz, Dept Pediat, Madrid, SpainCasas-Alba, Didac论文数: 0 引用数: 0 h-index: 0机构: Hosp St Joan Deu, Pediat Insitute Rare Dis IPER, Clin Genet & Dysmorphol, Dept Genet & Mol Med, Barcelona, Spain Hosp Univ Fdn Jimenez Diaz, Dept Pediat, Madrid, SpainLopez-Gonzalez, Aitor论文数: 0 引用数: 0 h-index: 0机构: Hosp St Joan Deu, Pediat Insitute Rare Dis IPER, Clin Genet & Dysmorphol, Dept Genet & Mol Med, Barcelona, Spain Hosp Univ Fdn Jimenez Diaz, Dept Pediat, Madrid, SpainGarcia-Minaur, Sixto论文数: 0 引用数: 0 h-index: 0机构: Inst Salud Carlos III, Ctr Invest Biomed Red Enfermedades Raras, Madrid, Spain Hosp Univ La Paz, Med & Mol Genet Inst INGEMM, Madrid, Spain Hosp Univ Fdn Jimenez Diaz, Dept Pediat, Madrid, SpainMori, Maria Angeles论文数: 0 引用数: 0 h-index: 0机构: Inst Salud Carlos III, Ctr Invest Biomed Red Enfermedades Raras, Madrid, Spain Hosp Univ La Paz, Med & Mol Genet Inst INGEMM, Madrid, Spain Hosp Univ Fdn Jimenez Diaz, Dept Pediat, Madrid, SpainPacio-Minguez, Marta论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ La Paz, Med & Mol Genet Inst INGEMM, Madrid, Spain Hosp Univ Fdn Jimenez Diaz, Dept Pediat, Madrid, SpainRikeros-Orozco, Emi论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ La Paz, Med & Mol Genet Inst INGEMM, Madrid, Spain Hosp Univ Fdn Jimenez Diaz, Dept Pediat, Madrid, SpainSantos-Simarro, Fernando论文数: 0 引用数: 0 h-index: 0机构: Inst Salud Carlos III, Ctr Invest Biomed Red Enfermedades Raras, Madrid, Spain Hosp Univ La Paz, Med & Mol Genet Inst INGEMM, Madrid, Spain Hosp Univ Fdn Jimenez Diaz, Dept Pediat, Madrid, SpainCruz-Rojo, Jaime论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ 12 Octubre, Dysmorphol & Genet Unit UDISGEN, Madrid, Spain Hosp Univ 12 Octubre, Dept Pediat, Endocrinol Unit, Madrid, Spain Hosp Univ Fdn Jimenez Diaz, Dept Pediat, Madrid, SpainQuesada-Espinosa, Juan Francisco论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ 12 Octubre, Dysmorphol & Genet Unit UDISGEN, Madrid, Spain Hosp Univ 12 Octubre, Dept Genet, Madrid, Spain Hosp Univ Fdn Jimenez Diaz, Dept Pediat, Madrid, SpainSanchez-Calvin, Maria Teresa论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ 12 Octubre, Dysmorphol & Genet Unit UDISGEN, Madrid, Spain Hosp Univ 12 Octubre, Dept Genet, Madrid, Spain Hosp Univ Fdn Jimenez Diaz, Dept Pediat, Madrid, SpainSanchez-Del Pozo, Jaime论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ 12 Octubre, Dysmorphol & Genet Unit UDISGEN, Madrid, Spain Hosp Univ 12 Octubre, Dept Pediat, Endocrinol Unit, Madrid, Spain Hosp Univ Fdn Jimenez Diaz, Dept Pediat, Madrid, SpainFonz, Raquel Bernado论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Navarra, Dept Pediat, Pediat Neurol Unit, Navarrabiomed Pediat Neurol Res Grp, Pamplona, Spain Hosp Univ Fdn Jimenez Diaz, Dept Pediat, Madrid, SpainIsidoro-Garcia, Maria论文数: 0 引用数: 0 h-index: 0机构: Univ Salamanca, Dept Biochem, Hosp Univ Salamanca, IBSAL, Salamanca, Spain Hosp Univ Fdn Jimenez Diaz, Dept Pediat, Madrid, SpainRuiz-Ayucar, Irene论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Salamanca, Dept Pediat, Salamanca, Spain Hosp Univ Fdn Jimenez Diaz, Dept Pediat, Madrid, SpainAlvarez-Mora, Maria Isabel论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Barcelona, IDIBAPS Inst Invest Biomed August Pi & Sunyer, Dept Biochem & Mol Genet, Barcelona, Spain Hosp Univ Fdn Jimenez Diaz, Dept Pediat, Madrid, SpainBlanco-Lago, Raquel论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Cent Asturias, Dept Pediat, Pediat Neurol Unit, Oviedo, Spain Hosp Univ Fdn Jimenez Diaz, Dept Pediat, Madrid, SpainDe Azua, Begona论文数: 0 引用数: 0 h-index: 0机构: Hosp Son Llatzer, Dept Pediat, Palma De Mallorca, Spain Hosp Univ Fdn Jimenez Diaz, Dept Pediat, Madrid, SpainEiris, Jesus论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Santiago de Compostela, Dept Pediat Neurol, Santiago De Compostela, Spain Hosp Univ Fdn Jimenez Diaz, Dept Pediat, Madrid, SpainGarcia-Penas, Juan Jose论文数: 0 引用数: 0 h-index: 0机构: Hosp Infantil Univ Nino Jesus, Dept Pediat, Pediat Neurol Unit, Madrid, Spain Hosp Univ Fdn Jimenez Diaz, Dept Pediat, Madrid, SpainGil-Fournier, Belen论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Getafe, Dept Genet, Madrid, Spain Hosp Univ Fdn Jimenez Diaz, Dept Pediat, Madrid, SpainGomez-Lado, Carmen论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Santiago de Compostela, Dept Pediat Neurol, Santiago De Compostela, Spain Hosp Univ Fdn Jimenez Diaz, Dept Pediat, Madrid, SpainIrazabal, Nadia论文数: 0 引用数: 0 h-index: 0机构: Hosp Can Misses, Dept Pediat, Eivissa, Spain Hosp Univ Fdn Jimenez Diaz, Dept Pediat, Madrid, SpainLopez-Gonzalez, Vanessa论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Virgen de La Arrixaca, Dept Genet, Med Genet Unit, Murcia, Spain Hosp Univ Fdn Jimenez Diaz, Dept Pediat, Madrid, SpainMadrigal, Irene论文数: 0 引用数: 0 h-index: 0机构: Inst Salud Carlos III, Ctr Invest Biomed Red Enfermedades Raras, Madrid, Spain Hosp Clin Barcelona, IDIBAPS Inst Invest Biomed August Pi & Sunyer, Dept Biochem & Mol Genet, Barcelona, Spain Hosp Univ Fdn Jimenez Diaz, Dept Pediat, Madrid, SpainMalaga, Ignacio论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Cent Asturias, Dept Pediat, Pediat Neurol Unit, Oviedo, Spain Hosp Univ Fdn Jimenez Diaz, Dept Pediat, Madrid, SpainMartinez-Menendez, Beatriz论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Getafe, Dept Neurol, Pediat Neurol Unit, Madrid, Spain Hosp Univ Fdn Jimenez Diaz, Dept Pediat, Madrid, SpainRamiro-Leon, Soraya论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Getafe, Dept Genet, Madrid, Spain Hosp Univ Fdn Jimenez Diaz, Dept Pediat, Madrid, SpainGarcia-Hoyos, Maria论文数: 0 引用数: 0 h-index: 0机构: NIMGenet Genom & Med, Genet Diag Serv, Madrid, Spain Hosp Univ Fdn Jimenez Diaz, Dept Pediat, Madrid, Spain论文数: 引用数: h-index:机构:Lopez-Pison, Javier论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Miguel Servet, Dept Pediat, Pediat Neurol Unit, Zaragoza, Spain Hosp Univ Fdn Jimenez Diaz, Dept Pediat, Madrid, SpainAguilera-Albesa, Sergio论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Navarra, Dept Pediat, Pediat Neurol Unit, Navarrabiomed Pediat Neurol Res Grp, Pamplona, Spain Hosp Univ Fdn Jimenez Diaz, Dept Pediat, Madrid, SpainAlvarez, Sara论文数: 0 引用数: 0 h-index: 0机构: NIMGenet Genom & Med, Genet Diag Serv, Madrid, Spain Hosp Univ Fdn Jimenez Diaz, Dept Pediat, Madrid, SpainFernandez-Jaen, Alberto论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Quironsalud Madrid, Dept Pediat Neurol, Madrid, Spain Hosp Univ Fdn Jimenez Diaz, Dept Pediat, Madrid, SpainLlano-Rivas, Isabel论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Cruces Biocruces, Dept Genet, Bizcaia Hlth Res Inst, Bizcaia, Spain Hosp Univ Fdn Jimenez Diaz, Dept Pediat, Madrid, SpainGener-Querol, Blanca论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Cruces Biocruces, Dept Genet, Bizcaia Hlth Res Inst, Bizcaia, Spain Hosp Univ Fdn Jimenez Diaz, Dept Pediat, Madrid, SpainAyuso, Carmen论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Fdn Jimenez Diaz IIS FJD, Dept Genet & Genom, Madrid 28040, Spain Inst Salud Carlos III, Ctr Invest Biomed Red Enfermedades Raras, Madrid, Spain Hosp Univ Fdn Jimenez Diaz, Dept Pediat, Madrid, SpainArteche-Lopez, Ana论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ 12 Octubre, Dysmorphol & Genet Unit UDISGEN, Madrid, Spain Hosp Univ 12 Octubre, Dept Genet, Madrid, Spain Hosp Univ Fdn Jimenez Diaz, Dept Pediat, Madrid, SpainPalomares-Bralo, Maria论文数: 0 引用数: 0 h-index: 0机构: Inst Salud Carlos III, Ctr Invest Biomed Red Enfermedades Raras, Madrid, Spain Hosp Univ La Paz, Med & Mol Genet Inst INGEMM, Madrid, Spain Hosp Univ Fdn Jimenez Diaz, Dept Pediat, Madrid, SpainCueto-Gonzalez, Anna论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Vall dHebron, Vall dHebron Res Inst, Dept Clin & Mol Genet, Barcelona, Spain Hosp Univ Fdn Jimenez Diaz, Dept Pediat, Madrid, SpainValenzuela, Irene论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Vall dHebron, Vall dHebron Res Inst, Dept Clin & Mol Genet, Barcelona, Spain Hosp Univ Fdn Jimenez Diaz, Dept Pediat, Madrid, SpainMartinez-Monseny, Antonio论文数: 0 引用数: 0 h-index: 0机构: Hosp St Joan Deu, Pediat Insitute Rare Dis IPER, Clin Genet & Dysmorphol, Dept Genet & Mol Med, Barcelona, Spain Hosp Univ Fdn Jimenez Diaz, Dept Pediat, Madrid, Spain
- [45] Clinical description, molecular delineation, and genotype-phenotype correlation in KBG syndrome: 67 new patients and review of the literatureEUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 : 461 - 462Martinez-Cayuelas, Elena论文数: 0 引用数: 0 h-index: 0机构: Fdn Jimenez Diaz Univ Hosp, Dept Pediat, Madrid, Spain Fdn Jimenez Diaz Univ Hosp, Dept Pediat, Madrid, SpainLorda, Isabel论文数: 0 引用数: 0 h-index: 0机构: Fdn Jimenez Diaz Univ Hosp, Dept Genet & Genom, Madrid, Spain Ctr Biomed Network Res Rare Dis CIBERER, ISCIII, Madrid, Spain Fdn Jimenez Diaz Univ Hosp, Dept Pediat, Madrid, SpainBlanco-Kelly, Fiona论文数: 0 引用数: 0 h-index: 0机构: Fdn Jimenez Diaz Univ Hosp, Dept Genet & Genom, Madrid, Spain Ctr Biomed Network Res Rare Dis CIBERER, ISCIII, Madrid, Spain Fdn Jimenez Diaz Univ Hosp, Dept Pediat, Madrid, SpainLopez-Rodriguez, Rosario论文数: 0 引用数: 0 h-index: 0机构: Fdn Jimenez Diaz Univ Hosp, Dept Genet & Genom, Madrid, Spain Fdn Jimenez Diaz Univ Hosp, Dept Pediat, Madrid, SpainLopez-Grondona, Fermina论文数: 0 引用数: 0 h-index: 0机构: Fdn Jimenez Diaz Univ Hosp, Dept Genet & Genom, Madrid, Spain Fdn Jimenez Diaz Univ Hosp, Dept Pediat, Madrid, SpainTahsin-Swafiri, Saoud论文数: 0 引用数: 0 h-index: 0机构: Fdn Jimenez Diaz Univ Hosp, Dept Genet & Genom, Madrid, Spain Ctr Biomed Network Res Rare Dis CIBERER, ISCIII, Madrid, Spain Fdn Jimenez Diaz Univ Hosp, Dept Pediat, Madrid, SpainLosada, Rebeca论文数: 0 引用数: 0 h-index: 0机构: Fdn Jimenez Diaz Univ Hosp, Dept Pediat, Madrid, Spain Fdn Jimenez Diaz Univ Hosp, Dept Pediat, Madrid, SpainMoreno, Beatriz论文数: 0 引用数: 0 h-index: 0机构: Fdn Jimenez Diaz Univ Hosp, Dept Pediat, Madrid, Spain Fdn Jimenez Diaz Univ Hosp, Dept Pediat, Madrid, SpainRodrigo, Maria论文数: 0 引用数: 0 h-index: 0机构: Fdn Jimenez Diaz Univ Hosp, Dept Pediat, Madrid, Spain Fdn Jimenez Diaz Univ Hosp, Dept Pediat, Madrid, SpainAyuso, Carmen论文数: 0 引用数: 0 h-index: 0机构: Fdn Jimenez Diaz Univ Hosp, Dept Genet & Genom, Madrid, Spain Ctr Biomed Network Res Rare Dis CIBERER, ISCIII, Madrid, Spain Fdn Jimenez Diaz Univ Hosp, Dept Pediat, Madrid, SpainLopez-Gonzalez, Aitor论文数: 0 引用数: 0 h-index: 0机构: St Joan Deu Hosp, Dept Genet & Mol Med, Pediat Inst Rare Dis IPER, Barcelona, Spain Fdn Jimenez Diaz Univ Hosp, Dept Pediat, Madrid, SpainMartinez-Monseny, Antonio论文数: 0 引用数: 0 h-index: 0机构: St Joan Deu Hosp, Dept Genet & Mol Med, Pediat Inst Rare Dis IPER, Barcelona, Spain Fdn Jimenez Diaz Univ Hosp, Dept Pediat, Madrid, SpainValenzuela Palafoll, Irene论文数: 0 引用数: 0 h-index: 0机构: Vall dHebron Univ Hosp, Dept Clin & Mol Genet, Barcelona, Spain Fdn Jimenez Diaz Univ Hosp, Dept Pediat, Madrid, SpainCueto-Gonzalez, Anna Maria论文数: 0 引用数: 0 h-index: 0机构: Vall dHebron Univ Hosp, Dept Clin & Mol Genet, Barcelona, Spain Fdn Jimenez Diaz Univ Hosp, Dept Pediat, Madrid, SpainGarcia-Minaur, Sixto论文数: 0 引用数: 0 h-index: 0机构: La Paz Univ Hosp, Struct & Funct Genom INGEMM, Madrid, Spain Fdn Jimenez Diaz Univ Hosp, Dept Pediat, Madrid, SpainSantos-Simarro, Fernando论文数: 0 引用数: 0 h-index: 0机构: La Paz Univ Hosp, Struct & Funct Genom INGEMM, Madrid, Spain Fdn Jimenez Diaz Univ Hosp, Dept Pediat, Madrid, SpainCruz, Jaime论文数: 0 引用数: 0 h-index: 0机构: 12 Octubre Univ Hosp, Dept Genet & Genom, Madrid, Spain Fdn Jimenez Diaz Univ Hosp, Dept Pediat, Madrid, SpainQuesada Espinosa, Juan Francisco论文数: 0 引用数: 0 h-index: 0机构: 12 Octubre Univ Hosp, Dept Genet & Genom, Madrid, Spain Fdn Jimenez Diaz Univ Hosp, Dept Pediat, Madrid, SpainSanchez del Pozo, Jaime论文数: 0 引用数: 0 h-index: 0机构: 12 Octubre Univ Hosp, Dept Genet & Genom, Madrid, Spain Fdn Jimenez Diaz Univ Hosp, Dept Pediat, Madrid, SpainArteche Lopez, Ana Rosa论文数: 0 引用数: 0 h-index: 0机构: 12 Octubre Univ Hosp, Dept Genet & Genom, Madrid, Spain Fdn Jimenez Diaz Univ Hosp, Dept Pediat, Madrid, SpainGener Querol, Blanca论文数: 0 引用数: 0 h-index: 0机构: Cruces Univ Hosp, Baracaldo, Spain Fdn Jimenez Diaz Univ Hosp, Dept Pediat, Madrid, SpainLlano Rivas, Isabel论文数: 0 引用数: 0 h-index: 0机构: Cruces Univ Hosp, Baracaldo, Spain Fdn Jimenez Diaz Univ Hosp, Dept Pediat, Madrid, SpainFernandez-Jaen, Alberto论文数: 0 引用数: 0 h-index: 0机构: Quironsalud Univ Hosp, Dept Pediat Neurol, Madrid, Spain Fdn Jimenez Diaz Univ Hosp, Dept Pediat, Madrid, SpainBernardo Fonz, Raquel论文数: 0 引用数: 0 h-index: 0机构: Navarra Univ Hosp, Pediat Neurol Unit, Dept Pediat, Navarra, Spain Fdn Jimenez Diaz Univ Hosp, Dept Pediat, Madrid, SpainAguilera Albesa, Sergio论文数: 0 引用数: 0 h-index: 0机构: Navarra Univ Hosp, Pediat Neurol Unit, Dept Pediat, Navarra, Spain Fdn Jimenez Diaz Univ Hosp, Dept Pediat, Madrid, SpainPrieto, Pablo论文数: 0 引用数: 0 h-index: 0机构: Salamanca Univ Hosp, Dept Pediat, Salamanca, Spain Fdn Jimenez Diaz Univ Hosp, Dept Pediat, Madrid, SpainLopez Pison, Javier论文数: 0 引用数: 0 h-index: 0机构: Miguel Servet Univ Hosp, Zaragoza, Spain Fdn Jimenez Diaz Univ Hosp, Dept Pediat, Madrid, SpainLopez, Vanessa论文数: 0 引用数: 0 h-index: 0机构: Virgen Arrixaca Univ Hosp, Dept Med Genet, Murcia, Spain Fdn Jimenez Diaz Univ Hosp, Dept Pediat, Madrid, SpainMalaga, Ignacio论文数: 0 引用数: 0 h-index: 0机构: Asturias Cent Univ Hosp, Pediat Neurol Unit, Dept Pediat, Oviedo, Spain Fdn Jimenez Diaz Univ Hosp, Dept Pediat, Madrid, SpainPalomares Bralo, Maria论文数: 0 引用数: 0 h-index: 0机构: Ctr Biomed Network Res Rare Dis CIBERER, ISCIII, Madrid, Spain La Paz Univ Hosp, Struct & Funct Genom INGEMM, Madrid, Spain Fdn Jimenez Diaz Univ Hosp, Dept Pediat, Madrid, SpainRamiro Leon, Soraya论文数: 0 引用数: 0 h-index: 0机构: Getafe Univ Hosp, Madrid, Spain Fdn Jimenez Diaz Univ Hosp, Dept Pediat, Madrid, SpainMartinez Menendez, Beatriz论文数: 0 引用数: 0 h-index: 0机构: Getafe Univ Hosp, Madrid, Spain Fdn Jimenez Diaz Univ Hosp, Dept Pediat, Madrid, SpainGil-Fourier, Belen论文数: 0 引用数: 0 h-index: 0机构: Getafe Univ Hosp, Madrid, Spain Fdn Jimenez Diaz Univ Hosp, Dept Pediat, Madrid, SpainEiris, Jesus论文数: 0 引用数: 0 h-index: 0机构: Santiago Univ Hosp, Santiago, Spain Fdn Jimenez Diaz Univ Hosp, Dept Pediat, Madrid, SpainJose, Juan论文数: 0 引用数: 0 h-index: 0机构: Nino Jesus Univ Hosp, Madrid, Spain Fdn Jimenez Diaz Univ Hosp, Dept Pediat, Madrid, SpainPenas, Garcia论文数: 0 引用数: 0 h-index: 0机构: Son Llatzer Univ Hosp, Mallorca, Spain Fdn Jimenez Diaz Univ Hosp, Dept Pediat, Madrid, SpainDe Azua Brea, Begona论文数: 0 引用数: 0 h-index: 0机构: Can Misses Univ Hosp, Ibiza, Spain Fdn Jimenez Diaz Univ Hosp, Dept Pediat, Madrid, SpainIrazabal, Nadia论文数: 0 引用数: 0 h-index: 0机构: Barcelona Clin Hosp, Barcelona, Spain Fdn Jimenez Diaz Univ Hosp, Dept Pediat, Madrid, SpainMadrigal, Irene论文数: 0 引用数: 0 h-index: 0机构: Barcelona Clin Hosp, Barcelona, Spain Fdn Jimenez Diaz Univ Hosp, Dept Pediat, Madrid, SpainIsabel Alvarez, Maria论文数: 0 引用数: 0 h-index: 0机构: NIMGenetics, Madrid, Spain Fdn Jimenez Diaz Univ Hosp, Dept Pediat, Madrid, SpainAlvarez, Sara论文数: 0 引用数: 0 h-index: 0机构: NIMGenetics, Madrid, Spain Fdn Jimenez Diaz Univ Hosp, Dept Pediat, Madrid, SpainGarcia, Maria论文数: 0 引用数: 0 h-index: 0机构: NIMGenetics, Madrid, Spain Fdn Jimenez Diaz Univ Hosp, Dept Pediat, Madrid, SpainAlmoguera Castillo, Berta论文数: 0 引用数: 0 h-index: 0机构: Fdn Jimenez Diaz Univ Hosp, Dept Genet & Genom, Madrid, Spain Ctr Biomed Network Res Rare Dis CIBERER, ISCIII, Madrid, Spain Fdn Jimenez Diaz Univ Hosp, Dept Pediat, Madrid, Spain
- [46] KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variantsGENETICS IN MEDICINE, 2019, 21 (04) : 850 - 860论文数: 引用数: h-index:机构:Goudie, David论文数: 0 引用数: 0 h-index: 0机构: Ninewells Hosp & Med Sch, Clin Genet, Dundee, Scotland Univ Hosp Bristol, Clin Genet, Southwell St, Bristol, Avon, EnglandBlair, Edward论文数: 0 引用数: 0 h-index: 0机构: Oxford Univ Hosp NHS Fdn Trust, Oxford Ctr Genom Med, Oxford, England Churchill Hosp, Dept Clin Genet, Oxford, England Univ Hosp Bristol, Clin Genet, Southwell St, Bristol, Avon, EnglandChandler, Kate论文数: 0 引用数: 0 h-index: 0机构: Cent Manchester Fdn NHS Trust, St Marys Hosp, Manchester Acad Hlth Sci Ctr, Manchester Ctr Genom Med, Manchester, Lancs, England Univ Hosp Bristol, Clin Genet, Southwell St, Bristol, Avon, EnglandJoss, Shelagh论文数: 0 引用数: 0 h-index: 0机构: Queen Elizabeth Univ Hosp, West Scotland Genet Serv, Glasgow, Lanark, Scotland Univ Hosp Bristol, Clin Genet, Southwell St, Bristol, Avon, EnglandMcKay, Victoria论文数: 0 引用数: 0 h-index: 0机构: Liverpool Womens NHS Fdn Trust, Cheshire & Merseyside Reg Genet Serv, Crown St, Liverpool, Merseyside, England Univ Hosp Bristol, Clin Genet, Southwell St, Bristol, Avon, EnglandGreen, Andrew论文数: 0 引用数: 0 h-index: 0机构: Our Ladys Childrens Hosp, Dept Clin Genet, Dublin, Ireland Univ Coll Dublin, Sch Med & Med Sci, Dublin, Ireland Univ Hosp Bristol, Clin Genet, Southwell St, Bristol, Avon, EnglandArmstrong, Ruth论文数: 0 引用数: 0 h-index: 0机构: Addenbrookes Hosp, East Anglian Med Genet Serv, Cambridge, England Univ Hosp Bristol, Clin Genet, Southwell St, Bristol, Avon, EnglandLees, Melissa论文数: 0 引用数: 0 h-index: 0机构: Great Ormond St Hosp NHS Trust, Clin Genet, London, England Univ Hosp Bristol, Clin Genet, Southwell St, Bristol, Avon, EnglandKamien, Benjamin论文数: 0 引用数: 0 h-index: 0机构: Hunter Genet, Newcastle, NSW, Australia Univ Hosp Bristol, Clin Genet, Southwell St, Bristol, Avon, EnglandHopper, Bruce论文数: 0 引用数: 0 h-index: 0机构: Hunter Genet, Newcastle, NSW, Australia Univ Hosp Bristol, Clin Genet, Southwell St, Bristol, Avon, EnglandTan, Tiong Yang论文数: 0 引用数: 0 h-index: 0机构: Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Melbourne, Vic, Australia Univ Melbourne, Dept Paediat, Melbourne, Vic, Australia Univ Hosp Bristol, Clin Genet, Southwell St, Bristol, Avon, EnglandYap, Patrick论文数: 0 引用数: 0 h-index: 0机构: Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Melbourne, Vic, Australia Genet Hlth Serv New Zealand, Auckland, New Zealand Univ Hosp Bristol, Clin Genet, Southwell St, Bristol, Avon, EnglandStark, Zornitza论文数: 0 引用数: 0 h-index: 0机构: Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Melbourne, Vic, Australia Univ Hosp Bristol, Clin Genet, Southwell St, Bristol, Avon, EnglandOkamoto, Nobuhiko论文数: 0 引用数: 0 h-index: 0机构: Osaka Med Ctr, Dept Med Genet, Osaka, Japan Osaka Med Ctr, Res Inst Maternal & Child Hlth, Osaka, Japan Univ Hosp Bristol, Clin Genet, Southwell St, Bristol, Avon, EnglandMiyake, Noriko论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa, Japan Univ Hosp Bristol, Clin Genet, Southwell St, Bristol, Avon, EnglandMatsumoto, Naomichi论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa, Japan Univ Hosp Bristol, Clin Genet, Southwell St, Bristol, Avon, EnglandMacnamara, Ellen论文数: 0 引用数: 0 h-index: 0机构: NHGRI, NIH, Bethesda, MD 20892 USA Univ Hosp Bristol, Clin Genet, Southwell St, Bristol, Avon, EnglandMurphy, Jennifer L.论文数: 0 引用数: 0 h-index: 0机构: NHGRI, NIH, Bethesda, MD 20892 USA Univ Hosp Bristol, Clin Genet, Southwell St, Bristol, Avon, EnglandMcCormick, Elizabeth论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USA Univ Hosp Bristol, Clin Genet, Southwell St, Bristol, Avon, EnglandHakonarson, Hakon论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USA Univ Hosp Bristol, Clin Genet, Southwell St, Bristol, Avon, EnglandFalk, Marni J.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USA Univ Hosp Bristol, Clin Genet, Southwell St, Bristol, Avon, EnglandLi, Dong论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USA Univ Hosp Bristol, Clin Genet, Southwell St, Bristol, Avon, EnglandBlackburn, Patrick论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Ctr Individualized Med, Rochester, MN USA Univ Hosp Bristol, Clin Genet, Southwell St, Bristol, Avon, EnglandKlee, Eric论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Ctr Individualized Med, Rochester, MN USA Mayo Clin, Dept Clin Genom, Rochester, MN USA Univ Hosp Bristol, Clin Genet, Southwell St, Bristol, Avon, EnglandBabovic-Vuksanovic, Dusica论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Ctr Individualized Med, Rochester, MN USA Mayo Clin, Dept Clin Genom, Rochester, MN USA Univ Hosp Bristol, Clin Genet, Southwell St, Bristol, Avon, EnglandSchelley, Susan论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Dept Pediat, Div Med Genet, Stanford, CA 94305 USA Univ Hosp Bristol, Clin Genet, Southwell St, Bristol, Avon, EnglandHudgins, Louanne论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Dept Pediat, Div Med Genet, Stanford, CA 94305 USA Univ Hosp Bristol, Clin Genet, Southwell St, Bristol, Avon, England论文数: 引用数: h-index:机构:Isidor, Bertrand论文数: 0 引用数: 0 h-index: 0机构: CHU Nantes, Serv Genet Med, Nantes, France Univ Hosp Bristol, Clin Genet, Southwell St, Bristol, Avon, EnglandCogne, Benjamin论文数: 0 引用数: 0 h-index: 0机构: CHU Nantes, Serv Genet Med, Nantes, France Univ Hosp Bristol, Clin Genet, Southwell St, Bristol, Avon, EnglandBradbury, Kimberley论文数: 0 引用数: 0 h-index: 0机构: Clin Genet Guys & St Thomas NHS Fdn Trust, Guys Hosp, London, England Univ Hosp Bristol, Clin Genet, Southwell St, Bristol, Avon, EnglandWilliams, Mark论文数: 0 引用数: 0 h-index: 0机构: Mater Grp, Mol Diagnost, South Brisbane, Qld, Australia Univ Hosp Bristol, Clin Genet, Southwell St, Bristol, Avon, 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Bristol, Clin Genet, Southwell St, Bristol, Avon, EnglandReijnders, Margot论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, Nijmegen, Netherlands Univ Hosp Bristol, Clin Genet, Southwell St, Bristol, Avon, EnglandSchuurs-Hoeijmakers, Janneke论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, Nijmegen, Netherlands Univ Hosp Bristol, Clin Genet, Southwell St, Bristol, Avon, EnglandWafik, Mohamed论文数: 0 引用数: 0 h-index: 0机构: Oxford Univ Hosp NHS Fdn Trust, Oxford Ctr Genom Med, Oxford, England Churchill Hosp, Dept Clin Genet, Oxford, England Univ Hosp Bristol, Clin Genet, Southwell St, Bristol, Avon, EnglandBlomhoff, Anne论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Dept Med Genet, Oslo, Norway Univ Hosp Bristol, Clin Genet, Southwell St, Bristol, Avon, EnglandRuivenkamp, Claudia A. 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M.论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Child Hlth, Clin & Mol Genet Unit, London, England Univ Amsterdam, Acad Med Ctr, Dept Pediat, NL-1105 AZ Amsterdam, Netherlands Univ Antwerp Hosp, Dept Med Genet, Prins Boudewijnlaan, BelgiumHilhorts-Hofstee, Yvonne论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Clin Genet, Leiden, Netherlands Univ Antwerp Hosp, Dept Med Genet, Prins Boudewijnlaan, BelgiumHolder, Muriel论文数: 0 引用数: 0 h-index: 0机构: Hop Jeanne de Flandre, Clin Genet Ctr, Lille, France Univ Antwerp Hosp, Dept Med Genet, Prins Boudewijnlaan, BelgiumHoyng, Carel论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Ophthalmol, NL-6525 ED Nijmegen, Netherlands Univ Antwerp Hosp, Dept Med Genet, Prins Boudewijnlaan, BelgiumJones, Kristi J.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Western Sydney Genet Program, Sydney, NSW, Australia Univ Sydney, Discipline Paediat & Child Hlth, Sydney, NSW 2006, Australia Univ Antwerp Hosp, Dept Med Genet, Prins Boudewijnlaan, BelgiumJosifova, Dragana论文数: 0 引用数: 0 h-index: 0机构: Guys Hosp, Dept Clin Genet, London SE1 9RT, England Univ Antwerp Hosp, Dept Med Genet, Prins Boudewijnlaan, BelgiumKaitila, Ilkka论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Cent Hosp, Dept Clin Genet, Helsinki, Finland Univ Antwerp Hosp, Dept Med Genet, Prins Boudewijnlaan, BelgiumKjaergaard, Suzanne论文数: 0 引用数: 0 h-index: 0机构: Rigshosp, Dept Clin Genet, DK-2100 Copenhagen, Denmark Univ Antwerp Hosp, Dept Med Genet, Prins Boudewijnlaan, BelgiumKroes, Yolande H.论文数: 0 引用数: 0 h-index: 0机构: Ctr Med Genet, Utrecht, Netherlands Univ Antwerp Hosp, Dept Med Genet, Prins Boudewijnlaan, BelgiumLagerstedt, Kristina论文数: 0 引用数: 0 h-index: 0机构: Karolinska Univ Hosp, Dept Clin Genet, Stockholm, Sweden Univ Antwerp Hosp, Dept Med Genet, Prins Boudewijnlaan, BelgiumLees, Melissa论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Child Hlth, Clin & Mol Genet Unit, London, England Univ Antwerp Hosp, Dept Med Genet, Prins Boudewijnlaan, BelgiumLeMerrer, Martine论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, Necker Enfants Malad Hosp, Dept Med Genet, Paris, France Univ Antwerp Hosp, Dept Med Genet, Prins Boudewijnlaan, BelgiumMagnani, Cinzia论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Parma, Dept Paediat, Parma, Italy Univ Antwerp Hosp, Dept Med Genet, Prins Boudewijnlaan, BelgiumMarcelis, Carlo论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen Med Ctr, Dept Human Genet, Nijmegen, Netherlands Univ Antwerp Hosp, Dept Med Genet, Prins Boudewijnlaan, BelgiumMartorell, Loreto论文数: 0 引用数: 0 h-index: 0机构: Hosp St Joan de Deu, Dept Genet, Barcelona, Spain Univ Antwerp Hosp, Dept Med Genet, Prins Boudewijnlaan, BelgiumMathieu, Michele论文数: 0 引用数: 0 h-index: 0机构: CHU Nord, Amiens, France Univ Antwerp Hosp, Dept Med Genet, Prins Boudewijnlaan, BelgiumMcEntagart, Meriel论文数: 0 引用数: 0 h-index: 0机构: St Georges Univ London, London, England Univ Antwerp Hosp, Dept Med Genet, Prins Boudewijnlaan, BelgiumMendicino, Angela论文数: 0 引用数: 0 h-index: 0机构: ASL RME, DTMI, UOS Genet, Rome, Italy Univ Antwerp Hosp, Dept Med Genet, Prins Boudewijnlaan, BelgiumMorton, Jenny论文数: 0 引用数: 0 h-index: 0机构: Birmingham Womens Hosp, Clin Genet Unit, Birmingham, W Midlands, England Univ Antwerp Hosp, Dept Med Genet, Prins Boudewijnlaan, BelgiumOrazio, Gabrielli论文数: 0 引用数: 0 h-index: 0机构: Osped G Salesi, Dept Clin Genet, Ancona, Italy Univ Antwerp Hosp, Dept Med Genet, Prins Boudewijnlaan, BelgiumPaquis, Veronique论文数: 0 引用数: 0 h-index: 0机构: Hop Arghet, Dept Clin Genet, Nice, France Univ Antwerp Hosp, Dept Med Genet, Prins Boudewijnlaan, BelgiumReish, Orit论文数: 0 引用数: 0 h-index: 0机构: Assaf Harofeh Med Ctr, Inst Genet, IL-70300 Zerifin, Israel Univ Antwerp Hosp, Dept Med Genet, Prins Boudewijnlaan, BelgiumSimola, Kalle O. J.论文数: 0 引用数: 0 h-index: 0机构: Tampere Univ Hosp, Dept Pediat, Tampere, Finland Univ Antwerp Hosp, Dept Med Genet, Prins Boudewijnlaan, BelgiumSmithson, Sarah F.论文数: 0 引用数: 0 h-index: 0机构: St Michaels Hosp, Dept Clin Genet, Bristol, Avon, England Univ Antwerp Hosp, Dept Med Genet, Prins Boudewijnlaan, BelgiumTemple, Karen I.论文数: 0 引用数: 0 h-index: 0机构: Univ Southampton, Div Human Genet, Acad Unit Genet Med, Southampton, Hants, England Univ Antwerp Hosp, Dept Med Genet, Prins Boudewijnlaan, BelgiumVan Aken, Elisabeth论文数: 0 引用数: 0 h-index: 0机构: Ghent Univ Hosp, Dept Ophthalmol, B-9000 Ghent, Belgium Univ Antwerp Hosp, Dept Med Genet, Prins Boudewijnlaan, BelgiumVan Bever, Yolande论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC, Dept Clin Genet, Rotterdam, Netherlands Univ Antwerp Hosp, Dept Med Genet, Prins Boudewijnlaan, Belgiumvan den Ende, Jenneke论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp Hosp, Ctr Med Genet, Antwerp, Belgium Univ Antwerp Hosp, Dept Med Genet, Prins Boudewijnlaan, BelgiumVan Hagen, Johanna M.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr, Dept Clin Genet, Amsterdam, Netherlands Univ Antwerp Hosp, Dept Med Genet, Prins Boudewijnlaan, BelgiumZelante, Leopoldo论文数: 0 引用数: 0 h-index: 0机构: IRCCS Casa Sollievo Sofferenza, Gen Med Serv, San Giovanni Rotondo, Italy Univ Antwerp Hosp, Dept Med Genet, Prins Boudewijnlaan, BelgiumZordania, Riina论文数: 0 引用数: 0 h-index: 0机构: Tallinn Childrens Hosp, Tallinn, Estonia Univ Antwerp Hosp, Dept Med Genet, Prins Boudewijnlaan, BelgiumDe Paepe, Anne论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp Hosp, Dept Med Genet, Prins Boudewijnlaan, Belgium Univ Antwerp Hosp, Dept Med Genet, Prins Boudewijnlaan, BelgiumLeroy, Bart P.论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp Hosp, Dept Med Genet, Prins Boudewijnlaan, Belgium Ghent Univ Hosp, Dept Ophthalmol, B-9000 Ghent, Belgium Univ Antwerp Hosp, Dept Med Genet, Prins Boudewijnlaan, Belgium
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