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- [21] Severe intellectual disability and autistic features associated with microduplication 2q23.1EUROPEAN JOURNAL OF HUMAN GENETICS, 2012, 20 (04) : 398 - 403Chung, Brian H. Y.论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Div Clin & Metab Genet, Dept Pediat, Toronto, ON M5G 1X8, Canada Hosp Sick Children, Div Clin & Metab Genet, Dept Pediat, Toronto, ON M5G 1X8, CanadaMullegama, Sureni论文数: 0 引用数: 0 h-index: 0机构: Virginia Commonwealth Univ, Dept Human & Mol Genet, Sch Med, Richmond, VA USA Hosp Sick Children, Div Clin & Metab Genet, Dept Pediat, Toronto, ON M5G 1X8, CanadaMarshall, Christian R.论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Ctr Appl Genom, Toronto, ON M5G 1X8, Canada Hosp Sick Children, Div Clin & Metab Genet, Dept Pediat, Toronto, ON M5G 1X8, CanadaLionel, Anath C.论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Ctr Appl Genom, Toronto, ON M5G 1X8, Canada Univ Toronto, McLaughlin Ctr Mol Med, Dept Mol Genet, Toronto, ON M5G 1X8, Canada Hosp Sick Children, Div Clin & Metab Genet, Dept Pediat, Toronto, ON M5G 1X8, CanadaWeksberg, Rosanna论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Div Clin & Metab Genet, Dept Pediat, Toronto, ON M5G 1X8, Canada Univ Toronto, McLaughlin Ctr Mol Med, Dept Mol Genet, Toronto, ON M5G 1X8, Canada Hosp Sick Children, Div Clin & Metab Genet, Dept Pediat, Toronto, ON M5G 1X8, CanadaDupuis, Lucie论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Div Clin & Metab Genet, Dept Pediat, Toronto, ON M5G 1X8, Canada Hosp Sick Children, Div Clin & Metab Genet, Dept Pediat, Toronto, ON M5G 1X8, CanadaBrick, Lauren论文数: 0 引用数: 0 h-index: 0机构: McMaster Univ, Med Ctr, Dept Pediat, Clin Genet Program, Hamilton, ON, Canada McMaster Childrens Hosp, Hamilton, ON, Canada Hosp Sick Children, Div Clin & Metab Genet, Dept Pediat, Toronto, ON M5G 1X8, CanadaLi, Chumei论文数: 0 引用数: 0 h-index: 0机构: McMaster Univ, Med Ctr, Dept Pediat, Clin Genet Program, Hamilton, ON, Canada McMaster Childrens Hosp, Hamilton, ON, Canada Hosp Sick Children, Div Clin & Metab Genet, Dept Pediat, Toronto, ON M5G 1X8, CanadaScherer, Stephen W.论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Ctr Appl Genom, Toronto, ON M5G 1X8, Canada Univ Toronto, McLaughlin Ctr Mol Med, Dept Mol Genet, Toronto, ON M5G 1X8, Canada Hosp Sick Children, Div Clin & Metab Genet, Dept Pediat, Toronto, ON M5G 1X8, CanadaAradhya, Swaroop论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD USA Hosp Sick Children, Div Clin & Metab Genet, Dept Pediat, Toronto, ON M5G 1X8, CanadaStavropoulos, D. James论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Dept Pediat Lab Med, Cytogenet Lab, Toronto, ON M5G 1X8, Canada Univ Toronto, Dept Lab Med & Pathol, Toronto, ON M5G 1X8, Canada Hosp Sick Children, Div Clin & Metab Genet, Dept Pediat, Toronto, ON M5G 1X8, CanadaElsea, Sarah H.论文数: 0 引用数: 0 h-index: 0机构: Virginia Commonwealth Univ, Dept Human & Mol Genet, Sch Med, Richmond, VA USA Virginia Commonwealth Univ, Dept Pediat, Sch Med, Richmond, VA USA Hosp Sick Children, Div Clin & Metab Genet, Dept Pediat, Toronto, ON M5G 1X8, CanadaMendoza-Londono, Roberto论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Div Clin & Metab Genet, Dept Pediat, Toronto, ON M5G 1X8, Canada Hosp Sick Children, Div Clin & Metab Genet, Dept Pediat, Toronto, ON M5G 1X8, Canada
- [22] Expanding the Phenotype of 8p23.1 Deletion Syndrome: Eight New Cases Resembling the Clinical Spectrum of 22q11.2 MicrodeletionJOURNAL OF PEDIATRICS, 2023, 252 : 56 - +Montenegro, Marilia Moreira论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo FMUSP, Med Sch, Dept Pathol, Cytogen Lab, Sao Paulo, SP, Brazil Univ Sao Paulo FMUSP, Clin Hosp, Med Sch, Lab Med Res Pediat LIM 36, Sao Paulo, SP, Brazil Univ Sao Paulo FMUSP, Clin Hosp, Childrens Inst, Dept Pediat,Med Sch, Sao Paulo, SP, Brazil Ave Dr Eneas Carvalho Aguiar 647, 5 Andar, LIM36, BR-05403000 Sao Paulo, SP, Brazil Univ Sao Paulo FMUSP, Med Sch, Dept Pathol, Cytogen Lab, Sao Paulo, SP, BrazilCamilotti, Debora论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Inst Biosci, Human Genome & Stem Cell Res Ctr, Dept Genet & Evolutionary Biol, Sao Paulo, SP, Brazil Univ Sao Paulo FMUSP, Med Sch, Dept Pathol, Cytogen Lab, Sao Paulo, SP, BrazilQuaio, Caio Robledo D'Anglioli Costa论文数: 0 引用数: 0 h-index: 0机构: Albert Einstein Israeli Hosp, Sao Paulo, Brazil Univ Sao Paulo FMUSP, Med Sch, Dept Pathol, Cytogen Lab, Sao Paulo, SP, BrazilGasparini, Yanca论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo FMUSP, Med Sch, Dept Pathol, Cytogen Lab, Sao Paulo, SP, Brazil Univ Sao Paulo FMUSP, Med Sch, Dept Pathol, Cytogen Lab, Sao Paulo, SP, BrazilZanardo, Evelin Aline论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo FMUSP, Med Sch, Dept Pathol, Cytogen Lab, Sao Paulo, SP, Brazil Univ Sao Paulo FMUSP, Med Sch, Dept Pathol, Cytogen Lab, Sao Paulo, SP, BrazilRangel-Santos, Andreia论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo FMUSP, Clin Hosp, Med Sch, Lab Med Res Pediat LIM 36, Sao Paulo, SP, Brazil Univ Sao Paulo FMUSP, Med Sch, Dept Pathol, Cytogen Lab, Sao Paulo, SP, BrazilNovo-Filho, Gil Monteiro论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo FMUSP, Med Sch, Dept Pathol, Cytogen Lab, Sao Paulo, SP, Brazil Univ Sao Paulo FMUSP, Med Sch, Dept Pathol, Cytogen Lab, Sao Paulo, SP, BrazilFrancisco, Gleyson论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo FMUSP, Med Sch, Dept Pathol, Cytogen Lab, Sao Paulo, SP, Brazil Univ Sao Paulo FMUSP, Med Sch, Dept Pathol, Cytogen Lab, Sao Paulo, SP, BrazilLiro, Lucas论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo FMUSP, Med Sch, Dept Pathol, Cytogen Lab, Sao Paulo, SP, Brazil Univ Sao Paulo FMUSP, Med Sch, Dept Pathol, Cytogen Lab, Sao Paulo, SP, BrazilNascimento, Amom论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo FMUSP, Med Sch, Dept Pathol, Cytogen Lab, Sao Paulo, SP, Brazil Univ Sao Paulo FMUSP, Med Sch, Dept Pathol, Cytogen Lab, Sao Paulo, SP, BrazilChehimi, Samar Nasser论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo FMUSP, Med Sch, Dept Pathol, Cytogen Lab, Sao Paulo, SP, Brazil Univ Sao Paulo FMUSP, Med Sch, Dept Pathol, Cytogen Lab, Sao Paulo, SP, BrazilSoares, Diogo Cordeiro Queiroz论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo FMUSP, Clin Hosp, Childrens Inst, Dept Pediat,Med Sch, Sao Paulo, SP, Brazil Univ Sao Paulo FMUSP, Med Sch, Dept Pathol, Cytogen Lab, Sao Paulo, SP, BrazilKrepischi, Ana C. V.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Inst Biosci, Human Genome & Stem Cell Res Ctr, Dept Genet & Evolutionary Biol, Sao Paulo, SP, Brazil Univ Sao Paulo FMUSP, Med Sch, Dept Pathol, Cytogen Lab, Sao Paulo, SP, BrazilGrassi, Marcilia Sierro论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo FMUSP, Clin Hosp, Childrens Inst, Dept Pediat,Med Sch, Sao Paulo, SP, Brazil Univ Sao Paulo FMUSP, Med Sch, Dept Pathol, Cytogen Lab, Sao Paulo, SP, BrazilHonjo, Rachel Sayuri论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo FMUSP, Clin Hosp, Childrens Inst, Dept Pediat,Genet Unit,Med Sch, Sao Paulo, SP, Brazil Univ Sao Paulo FMUSP, Med Sch, Dept Pathol, Cytogen Lab, Sao Paulo, SP, BrazilPalmeira, Patricia论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo FMUSP, Clin Hosp, Med Sch, Lab Med Res Pediat LIM 36, Sao Paulo, SP, Brazil Univ Sao Paulo FMUSP, Med Sch, Dept Pathol, Cytogen Lab, Sao Paulo, SP, BrazilKim, Chong Ae论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo FMUSP, Clin Hosp, Childrens Inst, Dept Pediat,Genet Unit,Med Sch, Sao Paulo, SP, Brazil Univ Sao Paulo FMUSP, Med Sch, Dept Pathol, Cytogen Lab, Sao Paulo, SP, BrazilCarneiro-Sampaio, Magda Maria Sales论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo FMUSP, Clin Hosp, Childrens Inst, Dept Pediat,Med Sch, Sao Paulo, SP, Brazil Univ Sao Paulo FMUSP, Med Sch, Dept Pathol, Cytogen Lab, Sao Paulo, SP, BrazilRosenberg, Carla论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Inst Biosci, Human Genome & Stem Cell Res Ctr, Dept Genet & Evolutionary Biol, Sao Paulo, SP, Brazil Univ Sao Paulo FMUSP, Med Sch, Dept Pathol, Cytogen Lab, Sao Paulo, SP, BrazilKulikowski, Leslie Domenici论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo FMUSP, Med Sch, Dept Pathol, Cytogen Lab, Sao Paulo, SP, Brazil Univ Sao Paulo FMUSP, Med Sch, Dept Pathol, Cytogen Lab, Sao Paulo, SP, Brazil
- [23] 19q13.32 microdeletion syndrome further delineation of the clinical phenotypeMOLECULAR CYTOGENETICS, 2019, 12Van Zutven, Laura论文数: 0 引用数: 0 h-index: 0机构: Erasmus Mc, Clin Genet, Rotterdam, Netherlands Erasmus Mc, Clin Genet, Rotterdam, NetherlandsVan Ravenswaaij-Arts, Conny论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Groningen, Clin Genet, Groningen, Netherlands Erasmus Mc, Clin Genet, Rotterdam, NetherlandsDijkhuizen, Trijnie论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Groningen, Clin Genet, Groningen, Netherlands Erasmus Mc, Clin Genet, Rotterdam, NetherlandsMcgregor-Schuerman, Magda论文数: 0 引用数: 0 h-index: 0机构: Rkz St Vincentius Pediat, Paramaribo, Suriname Erasmus Mc, Clin Genet, Rotterdam, NetherlandsVan Bever, Yolande论文数: 0 引用数: 0 h-index: 0机构: Erasmus Mc, Clin Genet, Rotterdam, Netherlands Erasmus Mc, Clin Genet, Rotterdam, NetherlandsSrebniak, Malgorzata论文数: 0 引用数: 0 h-index: 0机构: Erasmus Mc, Clin Genet, Rotterdam, Netherlands Erasmus Mc, Clin Genet, Rotterdam, Netherlands
- [24] 17q21.31 Microdeletion Syndrome: Further Expanding the Clinical PhenotypeCYTOGENETIC AND GENOME RESEARCH, 2009, 127 (01) : 61 - 66Sharkey, F. H.论文数: 0 引用数: 0 h-index: 0机构: Western Gen Hosp, Microarray Facil, Reg Cytogenet Lab, Edinburgh EH4 2XU, Midlothian, Scotland Western Gen Hosp, Microarray Facil, Reg Cytogenet Lab, Edinburgh EH4 2XU, Midlothian, ScotlandMorrison, N.论文数: 0 引用数: 0 h-index: 0机构: Yorkhill Hosp, Dept Cytogenet, Glasgow, Lanark, Scotland Western Gen Hosp, Microarray Facil, Reg Cytogenet Lab, Edinburgh EH4 2XU, Midlothian, ScotlandMurray, R.论文数: 0 引用数: 0 h-index: 0机构: Western Gen Hosp, Microarray Facil, Reg Cytogenet Lab, Edinburgh EH4 2XU, Midlothian, Scotland Western Gen Hosp, Microarray Facil, Reg Cytogenet Lab, Edinburgh EH4 2XU, Midlothian, ScotlandIremonger, J.论文数: 0 引用数: 0 h-index: 0机构: Western Gen Hosp, Microarray Facil, Reg Cytogenet Lab, Edinburgh EH4 2XU, Midlothian, Scotland Western Gen Hosp, Microarray Facil, Reg Cytogenet Lab, Edinburgh EH4 2XU, Midlothian, ScotlandStephen, J.论文数: 0 引用数: 0 h-index: 0机构: Borders Gen Hosp, Dept Paediat, Melrose, MA USA Western Gen Hosp, Microarray Facil, Reg Cytogenet Lab, Edinburgh EH4 2XU, Midlothian, ScotlandMaher, E.论文数: 0 引用数: 0 h-index: 0机构: Western Gen Hosp, Microarray Facil, Reg Cytogenet Lab, Edinburgh EH4 2XU, Midlothian, Scotland Western Gen Hosp, Microarray Facil, Reg Cytogenet Lab, Edinburgh EH4 2XU, Midlothian, ScotlandTolmie, J.论文数: 0 引用数: 0 h-index: 0机构: Yorkhill Hosp, Ferguson Smith Ctr Clin Genet, Glasgow, Lanark, Scotland Western Gen Hosp, Microarray Facil, Reg Cytogenet Lab, Edinburgh EH4 2XU, Midlothian, ScotlandJackson, A. P.论文数: 0 引用数: 0 h-index: 0机构: MRC, Human Genet Unit, Med & Dev Genet Sect, Edinburgh, Midlothian, Scotland Western Gen Hosp, Microarray Facil, Reg Cytogenet Lab, Edinburgh EH4 2XU, Midlothian, Scotland
- [25] Phenotypic and Molecular Convergence of 2q23.1 Deletion Syndrome with Other Neurodevelopmental Syndromes Associated with Autism Spectrum DisorderINTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2015, 16 (04): : 7627 - 7643Mullegama, Sureni V.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 & Human Genet, Houston, TX 77030 USAAlaimo, Joseph T.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 & Human Genet, Houston, TX 77030 USAChen, Li论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Fudan Univ, Sch Basic Med Sci, Dept Cellular & Genet Med, Shanghai 200032, Peoples R China Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAElsea, Sarah H.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 & Human Genet, Houston, TX 77030 USA
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- [27] The methyl binding domain containing protein MBD5 is a transcriptional regulator responsible for 2q23.1 deletion syndromeRARE DISEASES, 2014, 2 (01)Walz, Katherina论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Dr John T Macdonald Fdn, Dept Human Genet, Miami, FL 33146 USA Univ Miami, Miller Sch Med, Dept Med, Miami, FL USA Univ Miami, Dr John T Macdonald Fdn, Dept Human Genet, Miami, FL 33146 USAYoung, Juan I.论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Dr John T Macdonald Fdn, Dept Human Genet, Miami, FL 33146 USA Univ Miami, Miller Sch Med, Dept Med, Miami, FL USA Univ Miami, Dr John T Macdonald Fdn, Dept Human Genet, Miami, FL 33146 USA
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