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- [22] Diagnostic Usefulness of MLPA Techniques for Recurrent Copy Number Variants Detection in Global Developmental Delay/Intellectual DisabilityINTERNATIONAL JOURNAL OF GENERAL MEDICINE, 2021, 14 : 4511 - 4515Miclea, Diana论文数: 0 引用数: 0 h-index: 0机构: Iuliu Hatieganu Univ Med & Pharm, Dept Mol Sci, Pasteur St 6, Cluj Napoca 400349, Romania Emergency Clin Hosp Children, Cluj Napoca, Romania Iuliu Hatieganu Univ Med & Pharm, Dept Mol Sci, Pasteur St 6, Cluj Napoca 400349, RomaniaSzucs, Adriana论文数: 0 引用数: 0 h-index: 0机构: Iuliu Hatieganu Univ Med & Pharm, Dept Mol Sci, Pasteur St 6, Cluj Napoca 400349, Romania Emergency Clin Hosp Children, Cluj Napoca, Romania Iuliu Hatieganu Univ Med & Pharm, Dept Mol Sci, Pasteur St 6, Cluj Napoca 400349, RomaniaMirea, Andreea论文数: 0 引用数: 0 h-index: 0机构: Iuliu Hatieganu Univ Med & Pharm, Dept Mol Sci, Pasteur St 6, Cluj Napoca 400349, Romania Emergency Clin Hosp Children, Cluj Napoca, Romania Iuliu Hatieganu Univ Med & Pharm, Dept Mol Sci, Pasteur St 6, Cluj Napoca 400349, RomaniaStefan, Delia-Maria论文数: 0 引用数: 0 h-index: 0机构: Iuliu Hatieganu Univ Med & Pharm, Dept Mol Sci, Pasteur St 6, Cluj Napoca 400349, Romania Emergency Clin Hosp Children, Cluj Napoca, Romania Iuliu Hatieganu Univ Med & Pharm, Dept Mol Sci, Pasteur St 6, Cluj Napoca 400349, RomaniaNazarie, Florina论文数: 0 引用数: 0 h-index: 0机构: Iuliu Hatieganu Univ Med & Pharm, Dept Mol Sci, Pasteur St 6, Cluj Napoca 400349, Romania Emergency Clin Hosp Children, Cluj Napoca, Romania Iuliu Hatieganu Univ Med & Pharm, Dept Mol Sci, Pasteur St 6, Cluj Napoca 400349, RomaniaBucerzan, Simona论文数: 0 引用数: 0 h-index: 0机构: Emergency Clin Hosp Children, Cluj Napoca, Romania Iuliu Hatieganu Univ Med & Pharm, Dept Mother & Child, Cluj Napoca, Romania Iuliu Hatieganu Univ Med & Pharm, Dept Mol Sci, Pasteur St 6, Cluj Napoca 400349, RomaniaLazea, Cecilia论文数: 0 引用数: 0 h-index: 0机构: Emergency Clin Hosp Children, Cluj Napoca, Romania Iuliu Hatieganu Univ Med & Pharm, Dept Mother & Child, Cluj Napoca, Romania Iuliu Hatieganu Univ Med & Pharm, Dept Mol Sci, Pasteur St 6, Cluj Napoca 400349, RomaniaGrama, Alina论文数: 0 引用数: 0 h-index: 0机构: Emergency Clin Hosp Children, Cluj Napoca, Romania Iuliu Hatieganu Univ Med & Pharm, Dept Mother & Child, Cluj Napoca, Romania Iuliu Hatieganu Univ Med & Pharm, Dept Mol Sci, Pasteur St 6, Cluj Napoca 400349, RomaniaPop, Tudor Lucian论文数: 0 引用数: 0 h-index: 0机构: Emergency Clin Hosp Children, Cluj Napoca, Romania Iuliu Hatieganu Univ Med & Pharm, Dept Mother & Child, Cluj Napoca, Romania Iuliu Hatieganu Univ Med & Pharm, Dept Mol Sci, Pasteur St 6, Cluj Napoca 400349, RomaniaFarcas, Marius论文数: 0 引用数: 0 h-index: 0机构: Cty Emergency Clin Hosp, Cluj Napoca, Romania Iuliu Hatieganu Univ Med & Pharm, Dept Mol Sci, Pasteur St 6, Cluj Napoca 400349, RomaniaZaharie, Gabriela论文数: 0 引用数: 0 h-index: 0机构: Iuliu Hatieganu Univ Med & Pharm, Dept Mother & Child, Cluj Napoca, Romania Cty Emergency Clin Hosp, Cluj Napoca, Romania Iuliu Hatieganu Univ Med & Pharm, Dept Mol Sci, Pasteur St 6, Cluj Napoca 400349, RomaniaMatyas, Melinda论文数: 0 引用数: 0 h-index: 0机构: Iuliu Hatieganu Univ Med & Pharm, Dept Mother & Child, Cluj Napoca, Romania Cty Emergency Clin Hosp, Cluj Napoca, Romania Iuliu Hatieganu Univ Med & Pharm, Dept Mol Sci, Pasteur St 6, Cluj Napoca 400349, RomaniaMager, Monica论文数: 0 引用数: 0 h-index: 0机构: Emergency Clin Hosp Children, Cluj Napoca, Romania Iuliu Hatieganu Univ Med & Pharm, Dept Mother & Child, Cluj Napoca, Romania Iuliu Hatieganu Univ Med & Pharm, Dept Mol Sci, Pasteur St 6, Cluj Napoca 400349, RomaniaVintan, Mihaela论文数: 0 引用数: 0 h-index: 0机构: Emergency Clin Hosp Children, Cluj Napoca, Romania Iuliu Hatieganu Univ Med & Pharm, Dept Mother & Child, Cluj Napoca, Romania Iuliu Hatieganu Univ Med & Pharm, Dept Mol Sci, Pasteur St 6, Cluj Napoca 400349, RomaniaPopp, Radu论文数: 0 引用数: 0 h-index: 0机构: Iuliu Hatieganu Univ Med & Pharm, Dept Mol Sci, Pasteur St 6, Cluj Napoca 400349, Romania Iuliu Hatieganu Univ Med & Pharm, Dept Mol Sci, Pasteur St 6, Cluj Napoca 400349, RomaniaAlkhzouz, Camelia论文数: 0 引用数: 0 h-index: 0机构: Emergency Clin Hosp Children, Cluj Napoca, Romania Iuliu Hatieganu Univ Med & Pharm, Dept Mother & Child, Cluj Napoca, Romania Iuliu Hatieganu Univ Med & Pharm, Dept Mol Sci, Pasteur St 6, Cluj Napoca 400349, Romania
- [23] Dissecting the genotype in syndromic intellectual disability using whole exome sequencing in addition to genome-wide copy number analysisHUMAN GENETICS, 2013, 132 (07) : 825 - 841Classen, Carl Friedrich论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp, Dept Pediat, D-18057 Rostock, Germany Univ Hosp, Dept Pediat, D-18057 Rostock, GermanyRiehmer, Vera论文数: 0 引用数: 0 h-index: 0机构: Hannover Med Sch, Dept Human Genet, D-30625 Hannover, Germany Univ Bonn, Inst Human Genet, D-53127 Bonn, Germany Univ Hosp, Dept Pediat, D-18057 Rostock, GermanyLandwehr, Christina论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Inst Human Genet, D-53127 Bonn, Germany Inst Med Diagnost, D-12247 Berlin, Germany Univ Hosp, Dept Pediat, D-18057 Rostock, GermanyKosfeld, Anne论文数: 0 引用数: 0 h-index: 0机构: Hannover Med Sch, Dept Human Genet, D-30625 Hannover, Germany Univ Hosp, Dept Pediat, D-18057 Rostock, GermanyHeilmann, Stefanie论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Inst Human Genet, D-53127 Bonn, Germany Univ Bonn, Dept Genom, Life & Brain Ctr, D-53127 Bonn, Germany Univ Hosp, Dept Pediat, D-18057 Rostock, GermanyScholz, Caroline论文数: 0 引用数: 0 h-index: 0机构: Hannover Med Sch, Dept Human Genet, D-30625 Hannover, Germany Univ Hosp, Dept Pediat, D-18057 Rostock, GermanyKabisch, Sarah论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp, Dept Pediat, D-18057 Rostock, Germany Univ Hosp Hamburg Eppendorf, Div Neonatol & Intens Care, Dept Pediat, D-20246 Hamburg, Germany Univ Hosp, Dept Pediat, D-18057 Rostock, GermanyEngels, Hartmut论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Inst Human Genet, D-53127 Bonn, Germany Univ Hosp, Dept Pediat, D-18057 Rostock, GermanyTierling, Sascha论文数: 0 引用数: 0 h-index: 0机构: Univ Saarland, Biowissenschaften FR8 3, D-66041 Saarbrucken, Germany Univ Hosp, Dept Pediat, D-18057 Rostock, GermanyZivicnjak, Miroslav论文数: 0 引用数: 0 h-index: 0机构: Hannover Med Sch, Dept Pediat Kidney Liver & Metab Dis, D-30625 Hannover, Germany Univ Hosp, Dept Pediat, D-18057 Rostock, GermanySchacherer, Frank论文数: 0 引用数: 0 h-index: 0机构: Biobase GmbH, D-38304 Wolfenbuttel, Germany Univ Hosp, Dept Pediat, D-18057 Rostock, GermanyHaffner, Dieter论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp, Dept Pediat, D-18057 Rostock, Germany Hannover Med Sch, Dept Pediat Kidney Liver & Metab Dis, D-30625 Hannover, Germany Univ Hosp, Dept Pediat, D-18057 Rostock, GermanyWeber, Ruthild G.论文数: 0 引用数: 0 h-index: 0机构: Hannover Med Sch, Dept Human Genet, D-30625 Hannover, Germany Univ Bonn, Inst Human Genet, D-53127 Bonn, Germany Univ Hosp, Dept Pediat, D-18057 Rostock, Germany
- [24] Copy number variations from whole exome sequencing in children with skeletal dysplasiaHORMONE RESEARCH IN PAEDIATRICS, 2024, 97 : 478 - 478Kubota, Takuo论文数: 0 引用数: 0 h-index: 0机构: Osaka Univ, Dept Pediat, Grad Sch Med, Suita, Osaka, Japan Osaka Univ, Dept Pediat, Grad Sch Med, Suita, Osaka, JapanYamamoto, Kenich论文数: 0 引用数: 0 h-index: 0机构: Osaka Univ, Div Hlth Sci, Lab Childrens Hlth & Genet, Grad Sch Med, Suita, Osaka, Japan Osaka Univ, Dept Pediat, Grad Sch Med, Suita, Osaka, JapanYamada, Chieko论文数: 0 引用数: 0 h-index: 0机构: Osaka Univ, Dept Pediat, Grad Sch Med, Suita, Osaka, Japan Osaka Univ, Dept Pediat, Grad Sch Med, Suita, Osaka, JapanNakayama, Hirofumi论文数: 0 引用数: 0 h-index: 0机构: Osaka Univ, Dept Pediat, Grad Sch Med, Suita, Osaka, Japan Osaka Univ, Dept Oral & Maxillofacial Surg, Grad Sch Dent, Suita, Osaka, Japan Osaka Univ, Dept Pediat, Grad Sch Med, Suita, Osaka, JapanNakano, Yukako论文数: 0 引用数: 0 h-index: 0机构: Osaka Univ, Dept Pediat, Grad Sch Med, Suita, Osaka, Japan Osaka Univ, Dept Pediat, Grad Sch Med, Suita, Osaka, JapanFujiwara, Makoto论文数: 0 引用数: 0 h-index: 0机构: Osaka Univ, Dept Pediat, Grad Sch Med, Suita, Osaka, Japan Osaka Univ, Dept Pediat, Grad Sch Med, Suita, Osaka, JapanOhata, Yasuhisa论文数: 0 引用数: 0 h-index: 0机构: Osaka Univ, Dept Pediat, Grad Sch Med, Suita, Osaka, Japan Osaka Univ, Dept Pediat, Grad Sch Med, Suita, Osaka, JapanKitaoka, Taichi论文数: 0 引用数: 0 h-index: 0机构: ISEIKAI Int Gen Hosp, Dept Pediat, Osaka, Japan Osaka Univ, Dept Pediat, Grad Sch Med, Suita, Osaka, JapanOzono, Keiichi论文数: 0 引用数: 0 h-index: 0机构: ISEIKAI Int Gen Hosp, Ctr Promoting Treatment Intractable Dis, Osaka, Japan Osaka Univ, Dept Pediat, Grad Sch Med, Suita, Osaka, JapanKitabatake, Yasuji论文数: 0 引用数: 0 h-index: 0机构: Osaka Univ, Dept Pediat, Grad Sch Med, Suita, Osaka, Japan Osaka Univ, Dept Pediat, Grad Sch Med, Suita, Osaka, Japan
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- [27] The clinical benefit of array-based comparative genomic hybridization for detection of copy number variants in Czech children with intellectual disability and developmental delayBMC Medical Genomics, 12Marketa Wayhelova论文数: 0 引用数: 0 h-index: 0机构: Masaryk University,Institute of Experimental Biology, Faculty of ScienceJan Smetana论文数: 0 引用数: 0 h-index: 0机构: Masaryk University,Institute of Experimental Biology, Faculty of ScienceVladimira Vallova论文数: 0 引用数: 0 h-index: 0机构: Masaryk University,Institute of Experimental Biology, Faculty of ScienceEva Hladilkova论文数: 0 引用数: 0 h-index: 0机构: Masaryk University,Institute of Experimental Biology, Faculty of ScienceHana Filkova论文数: 0 引用数: 0 h-index: 0机构: Masaryk University,Institute of Experimental Biology, Faculty of ScienceMarta Hanakova论文数: 0 引用数: 0 h-index: 0机构: Masaryk University,Institute of Experimental Biology, Faculty of ScienceMarcela Vilemova论文数: 0 引用数: 0 h-index: 0机构: Masaryk University,Institute of Experimental Biology, Faculty of SciencePetra Nikolova论文数: 0 引用数: 0 h-index: 0机构: Masaryk University,Institute of Experimental Biology, Faculty of ScienceBarbora Gromesova论文数: 0 引用数: 0 h-index: 0机构: Masaryk University,Institute of Experimental Biology, Faculty of ScienceRenata Gaillyova论文数: 0 引用数: 0 h-index: 0机构: Masaryk University,Institute of Experimental Biology, Faculty of SciencePetr Kuglik论文数: 0 引用数: 0 h-index: 0机构: Masaryk University,Institute of Experimental Biology, Faculty of Science
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