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- [1] Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A DysfunctionAMERICAN JOURNAL OF HUMAN GENETICS, 2015, 96 (05) : 765 - 774Weaver, K. Nicole论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Dept Pediat, Cincinnati, OH 45229 USA Univ Cincinnati, Coll Med, Cincinnati, OH 45229 USA Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Dept Pediat, Cincinnati, OH 45229 USAWatt, Kristin E. Noack论文数: 0 引用数: 0 h-index: 0机构: Stowers Inst Med Res, Kansas City, MO 64110 USA Univ Kansas, Med Ctr, Kansas City, KS 66160 USA Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Dept Pediat, Cincinnati, OH 45229 USAHufnagel, Robert B.论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Dept Pediat, Cincinnati, OH 45229 USA Univ Cincinnati, Coll Med, Cincinnati, OH 45229 USA Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Dept Pediat, Cincinnati, OH 45229 USAAcedo, Joaquin Navajas论文数: 0 引用数: 0 h-index: 0机构: Stowers Inst Med Res, Kansas City, MO 64110 USA Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Dept Pediat, Cincinnati, OH 45229 USALinscott, Luke L.论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp Med Ctr, Dept Radiol, Cincinnati, OH 45229 USA Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Dept Pediat, Cincinnati, OH 45229 USASund, Kristen L.论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Dept Pediat, Cincinnati, OH 45229 USA Univ Cincinnati, Coll Med, Cincinnati, OH 45229 USA Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Dept Pediat, Cincinnati, OH 45229 USABender, Patricia L.论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Dept Pediat, Cincinnati, OH 45229 USA Univ Cincinnati, Coll Med, Cincinnati, OH 45229 USA Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Dept Pediat, Cincinnati, OH 45229 USAKoenig, Rainer论文数: 0 引用数: 0 h-index: 0机构: Univ Klinikum Frankfurt, Inst Humangenet, D-60596 Frankfurt, Germany Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Dept Pediat, Cincinnati, OH 45229 USALourenco, Charles M.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Neurogenet Unit, Clin Hosp Ribeirao Preto, BR-14049900 Sao Paulo, Brazil Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Dept Pediat, Cincinnati, OH 45229 USAHehr, Ute论文数: 0 引用数: 0 h-index: 0机构: Univ Klinikum Regensburg, Zentrum Humangenet, D-93053 Regensburg, Germany Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Dept Pediat, Cincinnati, OH 45229 USAHopkin, Robert J.论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Dept Pediat, Cincinnati, OH 45229 USA Univ Cincinnati, Coll Med, Cincinnati, OH 45229 USA Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Dept Pediat, Cincinnati, OH 45229 USALohmann, Dietmar R.论文数: 0 引用数: 0 h-index: 0机构: Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, D-45122 Essen, Germany Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Dept Pediat, Cincinnati, OH 45229 USATrainor, Paul A.论文数: 0 引用数: 0 h-index: 0机构: Stowers Inst Med Res, Kansas City, MO 64110 USA Univ Kansas, Med Ctr, Kansas City, KS 66160 USA Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Dept Pediat, Cincinnati, OH 45229 USAWieczorek, Dagmar论文数: 0 引用数: 0 h-index: 0机构: Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, D-45122 Essen, Germany Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Dept Pediat, Cincinnati, OH 45229 USASaal, Howard M.论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Dept Pediat, Cincinnati, OH 45229 USA Univ Cincinnati, Coll Med, Cincinnati, OH 45229 USA Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Dept Pediat, Cincinnati, OH 45229 USA
- [2] Severe neurodegenerative disease in brothers with homozygous mutation in POLR1AEuropean Journal of Human Genetics, 2017, 25 : 315 - 323Bülent Kara论文数: 0 引用数: 0 h-index: 0机构: Kocaeli University Medical Faculty,Division of Child Neurology, Department of PaediatricsÇiğdem Köroğlu论文数: 0 引用数: 0 h-index: 0机构: Kocaeli University Medical Faculty,Division of Child Neurology, Department of PaediatricsKarita Peltonen论文数: 0 引用数: 0 h-index: 0机构: Kocaeli University Medical Faculty,Division of Child Neurology, Department of PaediatricsRuchama C Steinberg论文数: 0 引用数: 0 h-index: 0机构: Kocaeli University Medical Faculty,Division of Child Neurology, Department of PaediatricsHülya Maraş Genç论文数: 0 引用数: 0 h-index: 0机构: Kocaeli University Medical Faculty,Division of Child Neurology, Department of PaediatricsMaarit Hölttä-Vuori论文数: 0 引用数: 0 h-index: 0机构: Kocaeli University Medical Faculty,Division of Child Neurology, Department of PaediatricsAyşe Güven论文数: 0 引用数: 0 h-index: 0机构: Kocaeli University Medical Faculty,Division of Child Neurology, Department of PaediatricsKristiina Kanerva论文数: 0 引用数: 0 h-index: 0机构: Kocaeli University Medical Faculty,Division of Child Neurology, Department of PaediatricsTuğba Kotil论文数: 0 引用数: 0 h-index: 0机构: Kocaeli University Medical Faculty,Division of Child Neurology, Department of PaediatricsSeyhun Solakoğlu论文数: 0 引用数: 0 h-index: 0机构: Kocaeli University Medical Faculty,Division of Child Neurology, Department of PaediatricsYou Zhou论文数: 0 引用数: 0 h-index: 0机构: Kocaeli University Medical Faculty,Division of Child Neurology, Department of PaediatricsVesa M Olkkonen论文数: 0 引用数: 0 h-index: 0机构: Kocaeli University Medical Faculty,Division of Child Neurology, Department of PaediatricsElina Ikonen论文数: 0 引用数: 0 h-index: 0机构: Kocaeli University Medical Faculty,Division of Child Neurology, Department of PaediatricsMarikki Laiho论文数: 0 引用数: 0 h-index: 0机构: Kocaeli University Medical Faculty,Division of Child Neurology, Department of PaediatricsAslıhan Tolun论文数: 0 引用数: 0 h-index: 0机构: Kocaeli University Medical Faculty,Division of Child Neurology, Department of Paediatrics
- [3] Severe neurodegenerative disease in brothers with homozygous mutation in POLR1AEUROPEAN JOURNAL OF HUMAN GENETICS, 2017, 25 (03) : 315 - 323Kara, Bulent论文数: 0 引用数: 0 h-index: 0机构: Kocaeli Univ, Fac Med, Dept Paediat, Div Child Neurol, Kocaeli, Turkey Kocaeli Univ, Fac Med, Dept Paediat, Div Child Neurol, Kocaeli, TurkeyKoroglu, Cigdem论文数: 0 引用数: 0 h-index: 0机构: Bogazici Univ, Dept Mol Biol & Genet, KP 301, TR-34342 Istanbul, Turkey Kocaeli Univ, Fac Med, Dept Paediat, Div Child Neurol, Kocaeli, TurkeyPeltonen, Karita论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Ctr Drug Res, Helsinki, Finland Kocaeli Univ, Fac Med, Dept Paediat, Div Child Neurol, Kocaeli, TurkeySteinberg, Ruchama C.论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Sch Med, Cellular & Mol Med Program, Baltimore, MD USA Kocaeli Univ, Fac Med, Dept Paediat, Div Child Neurol, Kocaeli, TurkeyGenc, Hulya Maras论文数: 0 引用数: 0 h-index: 0机构: Kocaeli Univ, Fac Med, Dept Paediat, Div Child Neurol, Kocaeli, Turkey Kocaeli Univ, Fac Med, Dept Paediat, Div Child Neurol, Kocaeli, TurkeyHoltta-Vuori, Maarit论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Dept Anat, Fac Med, Helsinki, Finland Minerva Fdn, Inst Med Res, Helsinki, Finland Kocaeli Univ, Fac Med, Dept Paediat, Div Child Neurol, Kocaeli, TurkeyGuven, Ayse论文数: 0 引用数: 0 h-index: 0机构: Bogazici Univ, Dept Mol Biol & Genet, KP 301, TR-34342 Istanbul, Turkey Kocaeli Univ, Fac Med, Dept Paediat, Div Child Neurol, Kocaeli, TurkeyKanerva, Kristiina论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Dept Anat, Fac Med, Helsinki, Finland Minerva Fdn, Inst Med Res, Helsinki, Finland Kocaeli Univ, Fac Med, Dept Paediat, Div Child Neurol, Kocaeli, TurkeyKotil, Tugba论文数: 0 引用数: 0 h-index: 0机构: Istanbul Univ, Dept Histol & Embryol, Istanbul Fac Med, Istanbul, Turkey Kocaeli Univ, Fac Med, Dept Paediat, Div Child Neurol, Kocaeli, TurkeySolakoglu, Seyhun论文数: 0 引用数: 0 h-index: 0机构: Istanbul Univ, Dept Histol & Embryol, Istanbul Fac Med, Istanbul, Turkey Kocaeli Univ, Fac Med, Dept Paediat, Div Child Neurol, Kocaeli, TurkeyZhou, You论文数: 0 引用数: 0 h-index: 0机构: Minerva Fdn, Inst Med Res, Helsinki, Finland Cardiff Univ, Syst Immun Univ Res Inst, Sch Med, Cardiff, S Glam, Wales Cardiff Univ, Div Infect & Immun, Sch Med, Cardiff, S Glam, Wales Kocaeli Univ, Fac Med, Dept Paediat, Div Child Neurol, Kocaeli, TurkeyOlkkonen, Vesa M.论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Dept Anat, Fac Med, Helsinki, Finland Minerva Fdn, Inst Med Res, Helsinki, Finland Kocaeli Univ, Fac Med, Dept Paediat, Div Child Neurol, Kocaeli, TurkeyIkonen, Elina论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Dept Anat, Fac Med, Helsinki, Finland Minerva Fdn, Inst Med Res, Helsinki, Finland Kocaeli Univ, Fac Med, Dept Paediat, Div Child Neurol, Kocaeli, TurkeyLaiho, Marikki论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Ctr Drug Res, Helsinki, Finland Johns Hopkins Univ, Sch Med, Dept Radiat Oncol, Baltimore, MD USA Johns Hopkins Univ, Sch Med, Sidney Kimmel Comprehens Canc Ctr, Baltimore, MD USA Kocaeli Univ, Fac Med, Dept Paediat, Div Child Neurol, Kocaeli, TurkeyTolun, Aslihan论文数: 0 引用数: 0 h-index: 0机构: Bogazici Univ, Dept Mol Biol & Genet, KP 301, TR-34342 Istanbul, Turkey Kocaeli Univ, Fac Med, Dept Paediat, Div Child Neurol, Kocaeli, Turkey
- [4] Mandibulofacial dysostosis bauru type syndrome: A new caseAMERICAN JOURNAL OF MEDICAL GENETICS, 1999, 86 (02): : 199 - 201Zechi-Ceide, RM论文数: 0 引用数: 0 h-index: 0机构: USP, Serv Genet Clin, Hosp Reabilitacao Anomalias Craniofaciais, BR-17043900 Bauru, SP, Brazil USP, Serv Genet Clin, Hosp Reabilitacao Anomalias Craniofaciais, BR-17043900 Bauru, SP, BrazilGuion-Almeida, ML论文数: 0 引用数: 0 h-index: 0机构: USP, Serv Genet Clin, Hosp Reabilitacao Anomalias Craniofaciais, BR-17043900 Bauru, SP, Brazil USP, Serv Genet Clin, Hosp Reabilitacao Anomalias Craniofaciais, BR-17043900 Bauru, SP, Brazil
- [5] A MANDIBULOFACIAL DYSOSTOSIS SYNDROME WITH A CHROMOSOMAL ABNORMALITYANNALES DE PEDIATRIE, 1987, 34 (08): : 641 - 643CHABROLLE, JP论文数: 0 引用数: 0 h-index: 0CHAUVEAU, P论文数: 0 引用数: 0 h-index: 0LELUYER, B论文数: 0 引用数: 0 h-index: 0DELAPORTE, B论文数: 0 引用数: 0 h-index: 0COUDRAY, J论文数: 0 引用数: 0 h-index: 0
- [6] Mandibulofacial dysostosis with microcephaly: a syndrome to rememberBMJ CASE REPORTS, 2019, 12 (08)Silva, Joana Brandao论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Vila Nova de Gaia Espinho EPE, Pediat Dept, Vila Nova De Gaia, Portugal Ctr Hosp Vila Nova de Gaia Espinho EPE, Pediat Dept, Vila Nova De Gaia, PortugalSoares, Diana论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Vila Nova de Gaia Espinho EPE, Pediat Dept, Vila Nova De Gaia, Portugal Ctr Hosp Vila Nova de Gaia Espinho EPE, Pediat Dept, Vila Nova De Gaia, PortugalLeao, Miguel论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Sao Joao, Paediat Dept, Paediat Neurol Unit, Porto, Portugal Ctr Hosp Vila Nova de Gaia Espinho EPE, Pediat Dept, Vila Nova De Gaia, PortugalSantos, Helena论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Vila Nova de Gaia Espinho EPE, Paediat Dept, Infancy & Adolescent Neurosci Unit, Vila Nova De Gaia, Portugal Ctr Hosp Vila Nova de Gaia Espinho EPE, Pediat Dept, Vila Nova De Gaia, Portugal
- [7] Mandibulofacial Dysostosis (Treacher Collins Syndrome) novel de novo mutation in TCOF1MEDICINE, 2016, 95 (10)Martins, Marcia论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Tras Os Montes & Alto Douro, Genet Clin, Vila Real, Portugal Ctr Hosp Tras Os Montes & Alto Douro, Genet Clin, Vila Real, PortugalBotelho, Pedro论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Tras Os Montes & Alto Douro, Cytogenet Lab, Vila Real, Portugal Ctr Hosp Tras Os Montes & Alto Douro, Genet Clin, Vila Real, PortugalSouto, Marta论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Tras Os Montes & Alto Douro, Cytogenet Lab, Vila Real, Portugal Ctr Hosp Tras Os Montes & Alto Douro, Genet Clin, Vila Real, PortugalArantes, Regina论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Tras Os Montes & Alto Douro, Cytogenet Lab, Vila Real, Portugal Ctr Hosp Tras Os Montes & Alto Douro, Genet Clin, Vila Real, PortugalMoutinho, Osvaldo论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Tras Os Montes & Alto Douro, Genet Clin, Vila Real, Portugal Ctr Hosp Tras Os Montes & Alto Douro, Genet Clin, Vila Real, PortugalPinto-Leite, Rosario论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Tras Os Montes & Alto Douro, Cytogenet Lab, Vila Real, Portugal Ctr Hosp Tras Os Montes & Alto Douro, Genet Clin, Vila Real, Portugal
- [8] Treacher Collins syndrome (Mandibulofacial dysostosis)OTOLOGY & NEUROTOLOGY, 2002, 23 (06) : 1005 - 1005Crovetto, MA论文数: 0 引用数: 0 h-index: 0机构: Hosp Basurto, Vizcaya, Spain Hosp Basurto, Vizcaya, SpainLinthicum, TH论文数: 0 引用数: 0 h-index: 0机构: Hosp Basurto, Vizcaya, Spain
- [9] Mandibulofacial dysostosis, microtia, and limb anomalies in a newborn: a new form of acrofacial dysostosis syndrome?CLINICAL GENETICS, 2010, 78 (06) : 570 - 574Zhang, Y.论文数: 0 引用数: 0 h-index: 0机构: Chongqing Med Univ, Minist Educ, Key Lab Lab Med Diagnost, Chongqing 400016, Peoples R China Chongqing Med Univ, Minist Educ, Key Lab Lab Med Diagnost, Chongqing 400016, Peoples R ChinaDai, Y.论文数: 0 引用数: 0 h-index: 0机构: Chongqing Med Univ, Minist Educ, Key Lab Lab Med Diagnost, Chongqing 400016, Peoples R China Chongqing Med Univ, Minist Educ, Key Lab Lab Med Diagnost, Chongqing 400016, Peoples R ChinaLiu, Y.论文数: 0 引用数: 0 h-index: 0机构: Sun Yat Sen Univ, Tung Wah Hosp, Dept Med Genet, Guangzhou 523012, Guangdong, Peoples R China Chongqing Med Univ, Minist Educ, Key Lab Lab Med Diagnost, Chongqing 400016, Peoples R ChinaRen, J.论文数: 0 引用数: 0 h-index: 0机构: Jinan Univ, Shenzhen Peoples Hosp, Clin Med Coll 2, Guangzhou 518020, Guangdong, Peoples R China Chongqing Med Univ, Minist Educ, Key Lab Lab Med Diagnost, Chongqing 400016, Peoples R China
- [10] Mandibulofacial Dysostosis with Microcephaly: Mutation and Database UpdateHUMAN MUTATION, 2016, 37 (02) : 148 - 154Huang, Lijia论文数: 0 引用数: 0 h-index: 0机构: Univ Ottawa, Childrens Hosp, Eastern Ontario Res Inst, Ottawa, ON, Canada Univ Ottawa, Childrens Hosp, Eastern Ontario Res Inst, Ottawa, ON, CanadaVanstone, Megan R.论文数: 0 引用数: 0 h-index: 0机构: Univ Ottawa, Childrens Hosp, Eastern Ontario Res Inst, Ottawa, ON, Canada Univ Ottawa, Childrens Hosp, Eastern Ontario Res Inst, Ottawa, ON, CanadaHartley, Taila论文数: 0 引用数: 0 h-index: 0机构: Univ Ottawa, Childrens Hosp, Eastern Ontario Res Inst, Ottawa, ON, Canada Univ Ottawa, Childrens Hosp, Eastern Ontario Res Inst, Ottawa, ON, Canada论文数: 引用数: h-index:机构:Barrowman, Nick论文数: 0 引用数: 0 h-index: 0机构: Univ Ottawa, Childrens Hosp, Eastern Ontario Res Inst, Ottawa, ON, Canada Univ Ottawa, Dept Pediat, Ottawa, ON K1N 6N5, Canada Univ Ottawa, Childrens Hosp, Eastern Ontario Res Inst, Ottawa, ON, CanadaAllanson, Judith论文数: 0 引用数: 0 h-index: 0机构: Univ Ottawa, Dept Pediat, Ottawa, ON K1N 6N5, Canada Childrens Hosp Eastern Ontario, Dept Genet, Ottawa, ON K1H 8L1, Canada Univ Ottawa, Childrens Hosp, Eastern Ontario Res Inst, Ottawa, ON, CanadaBaker, Laura论文数: 0 引用数: 0 h-index: 0机构: Alfred I DuPont Hosp Children, Div Med Genet, Wilmington, DE USA Univ Ottawa, Childrens Hosp, Eastern Ontario Res Inst, Ottawa, ON, CanadaDabir, Tabib A.论文数: 0 引用数: 0 h-index: 0机构: Belfast City Hosp, Dept Clin Genet, Belfast BT9 7AD, Antrim, North Ireland Univ Ottawa, Childrens Hosp, Eastern Ontario Res Inst, Ottawa, ON, CanadaDipple, Katrina M.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, David Geffen Sch Med, Dept Pediat & Human Genet, Los Angeles, CA 90095 USA Univ Ottawa, Childrens Hosp, Eastern Ontario Res Inst, Ottawa, ON, CanadaDobyns, William B.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Pediat, Div Med Genet, Seattle, WA 98195 USA Seattle Childrens Res Inst, Ctr Integrat Brain Res, Seattle, WA USA Univ Ottawa, Childrens Hosp, Eastern Ontario Res Inst, Ottawa, ON, CanadaEstrella, Jane论文数: 0 引用数: 0 h-index: 0机构: Westmead Hosp, Dept Med Genet, Sydney, NSW, Australia Univ Ottawa, Childrens Hosp, Eastern Ontario Res Inst, Ottawa, ON, CanadaFaghfoury, Hanna论文数: 0 引用数: 0 h-index: 0机构: Univ Toronto, Univ Hlth Network, Fred A Litwin Family Ctr Genet Med, Toronto, ON, Canada Univ Toronto, Mt Sinai Hosp, Toronto, ON M5G 1X5, Canada Univ Ottawa, Childrens Hosp, Eastern Ontario Res Inst, Ottawa, ON, CanadaFavaro, Francine P.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Dept Clin Genet, Hosp Rehabil Craniofacial Anomalies, Bauru, Brazil Univ Ottawa, Childrens Hosp, Eastern Ontario Res Inst, Ottawa, ON, CanadaGoel, Himanshu论文数: 0 引用数: 0 h-index: 0机构: Univ Newcastle, Fac Hlth, Newcastle Sch Med & Publ Hlth, Callaghan, NSW 2308, Australia Univ Ottawa, Childrens Hosp, Eastern Ontario Res Inst, Ottawa, ON, CanadaGregersen, Pernille A.论文数: 0 引用数: 0 h-index: 0机构: Aarhus Univ Hosp, Dept Clin Genet, DK-8000 Aarhus, Denmark Univ Ottawa, Childrens Hosp, Eastern Ontario Res Inst, Ottawa, ON, CanadaGripp, Karen W.论文数: 0 引用数: 0 h-index: 0机构: Alfred I DuPont Hosp Children, Div Med Genet, Wilmington, DE USA Univ Ottawa, Childrens Hosp, Eastern Ontario Res Inst, Ottawa, ON, CanadaGrix, Art论文数: 0 引用数: 0 h-index: 0机构: Permanente Med Grp Inc, Dept Genet, Roseville, CA USA Univ Ottawa, Childrens Hosp, Eastern Ontario Res Inst, Ottawa, ON, CanadaGuion-Almeida, Maria-Leine论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Dept Clin Genet, Hosp Rehabil Craniofacial Anomalies, Bauru, Brazil Univ Ottawa, Childrens Hosp, Eastern Ontario Res Inst, Ottawa, ON, CanadaHarr, Margaret H.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USA Univ Penn, Perelman Sch Med, Philadelphia, PA 19104 USA Univ Ottawa, Childrens Hosp, Eastern Ontario Res Inst, Ottawa, ON, CanadaHudson, Cindy论文数: 0 引用数: 0 h-index: 0机构: Shodair Childrens Hosp, Helena, MT USA Univ Ottawa, Childrens Hosp, Eastern Ontario Res Inst, Ottawa, ON, CanadaHunter, Alasdair G. W.论文数: 0 引用数: 0 h-index: 0机构: Univ Toronto, Univ Hlth Network, Fred A Litwin Family Ctr Genet Med, Toronto, ON, Canada Univ Ottawa, Childrens Hosp, Eastern Ontario Res Inst, Ottawa, ON, CanadaJohnson, John论文数: 0 引用数: 0 h-index: 0机构: Shodair Childrens Hosp, Helena, MT USA Floating Hosp Children, Tufts Med Ctr, Clin Genet & Metab, Boston, MA USA Univ Ottawa, Childrens Hosp, Eastern Ontario Res Inst, Ottawa, ON, CanadaJoss, Shelagh K.论文数: 0 引用数: 0 h-index: 0机构: South Glasgow Univ Hosp, West Scotland Clin Genet Serv, Glasgow, Lanark, Scotland Univ Ottawa, Childrens Hosp, Eastern Ontario Res Inst, Ottawa, ON, CanadaKimball, Amy论文数: 0 引用数: 0 h-index: 0机构: Greater Baltimore Med Ctr, Harvey Inst Human Genet, Baltimore, MD USA Univ Ottawa, Childrens Hosp, Eastern Ontario Res Inst, Ottawa, ON, Canada论文数: 引用数: h-index:机构:Kline, Antonie D.论文数: 0 引用数: 0 h-index: 0机构: Greater Baltimore Med Ctr, Harvey Inst Human Genet, Baltimore, MD USA Univ Ottawa, Childrens Hosp, Eastern Ontario Res Inst, Ottawa, ON, CanadaLauzon, Julie论文数: 0 引用数: 0 h-index: 0机构: Univ Calgary, Alberta Childrens Hosp Res Inst, Dept Med Genet, Calgary, AB, Canada Univ Ottawa, Childrens Hosp, Eastern Ontario Res Inst, Ottawa, ON, CanadaLildballe, Dorte L.论文数: 0 引用数: 0 h-index: 0机构: Aarhus Univ Hosp, Dept Clin Genet, DK-8000 Aarhus, Denmark Univ Ottawa, Childrens Hosp, Eastern Ontario Res Inst, Ottawa, ON, CanadaLopez-Gonzalez, Vanesa论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Univ Virgen Arrixaca, IMIB Arrixaca, Serv Pediat, Secc Genet Med, Murcia, Spain Inst Salud Carlos III, CIBERER, Grp Clin Vinculado, Madrid, Spain Univ Ottawa, Childrens Hosp, Eastern Ontario Res Inst, Ottawa, ON, CanadaMartinezmoles, Johanna论文数: 0 引用数: 0 h-index: 0机构: Lawrence Livermore Natl Lab, Sacramento Med Ctr, Dept Genet, Sacramento, CA 95817 USA Univ Ottawa, Childrens Hosp, Eastern Ontario Res Inst, Ottawa, ON, CanadaMeldrum, Cliff论文数: 0 引用数: 0 h-index: 0机构: NSW Hlth Pathol, Newcastle, NSW, Australia Univ Ottawa, Childrens Hosp, Eastern Ontario Res Inst, Ottawa, ON, CanadaMirzaa, Ghayda M.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Pediat, Div Med Genet, Seattle, WA 98195 USA Seattle Childrens Res Inst, Ctr Integrat Brain Res, Seattle, WA USA Univ Ottawa, Childrens Hosp, Eastern Ontario Res Inst, Ottawa, ON, CanadaMorel, Chantal F.论文数: 0 引用数: 0 h-index: 0机构: Univ Toronto, Univ Hlth Network, Fred A Litwin Family Ctr Genet Med, Toronto, ON, Canada Univ Toronto, Mt Sinai Hosp, Toronto, ON M5G 1X5, Canada Univ Ottawa, Childrens Hosp, Eastern Ontario Res Inst, Ottawa, ON, CanadaMorton, Jenny E. V.论文数: 0 引用数: 0 h-index: 0机构: Birmingham Womens Hosp, West Midlands Reg Genet Serv, Birmingham, W Midlands, England Univ Ottawa, Childrens Hosp, Eastern Ontario Res Inst, Ottawa, ON, CanadaPyle, Louise C.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Perelman Sch Med, Dept Pediat, Philadelphia, PA 19104 USA Univ Ottawa, Childrens Hosp, Eastern Ontario Res Inst, Ottawa, ON, CanadaQuintero-Rivera, Fabiola论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, David Geffen Sch Med, Dept Pathol & Lab Med, UCLA Clin Genom Ctr, Los Angeles, CA 90095 USA Univ Ottawa, Childrens Hosp, Eastern Ontario Res Inst, Ottawa, ON, CanadaRicher, Julie论文数: 0 引用数: 0 h-index: 0机构: Univ Ottawa, Childrens Hosp, Eastern Ontario Res Inst, Ottawa, ON, Canada Childrens Hosp Eastern Ontario, Dept Genet, Ottawa, ON K1H 8L1, Canada Univ Ottawa, Childrens Hosp, Eastern Ontario Res Inst, Ottawa, ON, CanadaScheuerle, Angela E.论文数: 0 引用数: 0 h-index: 0机构: Univ Texas SW Med Ctr Dallas, Dept Pediat, Dallas, TX 75390 USA Univ Ottawa, Childrens Hosp, Eastern Ontario Res Inst, Ottawa, ON, CanadaSchonewolf-Greulich, Bitten论文数: 0 引用数: 0 h-index: 0机构: Copenhagen Univ Hosp, Rigshosp, Genet Counselling Clin Kennedy Ctr, Glostrup, Denmark Univ Ottawa, Childrens Hosp, Eastern Ontario Res Inst, Ottawa, ON, CanadaShears, Deborah J.论文数: 0 引用数: 0 h-index: 0机构: Oxford Univ Hosp NHS Trust, Churchill Hosp, Oxford Reg Genet Serv, Oxford, England Univ Ottawa, Childrens Hosp, Eastern Ontario Res Inst, Ottawa, ON, CanadaSilver, Josh论文数: 0 引用数: 0 h-index: 0机构: Univ Toronto, Mt Sinai Hosp, Toronto, ON M5G 1X5, Canada Univ Ottawa, Childrens Hosp, Eastern Ontario Res Inst, Ottawa, ON, CanadaSmith, Amanda C.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Eastern Ontario, Dept Genet, Ottawa, ON K1H 8L1, Canada Univ Ottawa, Childrens Hosp, Eastern Ontario Res Inst, Ottawa, ON, CanadaTemple, I. Karen论文数: 0 引用数: 0 h-index: 0机构: Univ Southampton, Fac Med, Human Dev & Hlth, Southampton SO9 5NH, Hants, England Univ Hosp Southampton NHS Fdn Trust, Princess Anne Hosp, Wessex Clin Genet Serv, Southampton, Hants, England Univ Ottawa, Childrens Hosp, Eastern Ontario Res Inst, Ottawa, ON, Canadavan de Kamp, Jiddeke M.论文数: 0 引用数: 0 h-index: 0机构: Vrije Univ Amsterdam Med Ctr, Dept Clin Genet, Amsterdam, Netherlands Univ Ottawa, Childrens Hosp, Eastern Ontario Res Inst, Ottawa, ON, Canadavan Dijk, Fleur S.论文数: 0 引用数: 0 h-index: 0机构: Vrije Univ Amsterdam Med Ctr, Dept Clin Genet, Amsterdam, Netherlands Univ Ottawa, Childrens Hosp, Eastern Ontario Res Inst, Ottawa, ON, CanadaVandersteen, Anthony M.论文数: 0 引用数: 0 h-index: 0机构: IWKHlth Ctr, Maritime Med Genet Serv, Halifax, NS, Canada Univ Ottawa, Childrens Hosp, Eastern Ontario Res Inst, Ottawa, ON, CanadaWhite, Sue M.论文数: 0 引用数: 0 h-index: 0机构: Murdoch Childrens Res Inst, Victoria Clin Genet Serv, Melbourne, Vic, Australia Univ Melbourne, Dept Pediat, Melbourne, Vic, Australia Univ Ottawa, Childrens Hosp, Eastern Ontario Res Inst, Ottawa, ON, CanadaZackai, Elaine H.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USA Univ Penn, Perelman Sch Med, Dept Pediat, Philadelphia, PA 19104 USA Univ Ottawa, Childrens Hosp, Eastern Ontario Res Inst, Ottawa, ON, CanadaZou, Ruobing论文数: 0 引用数: 0 h-index: 0机构: Univ Ottawa, Childrens Hosp, Eastern Ontario Res Inst, Ottawa, ON, Canada Univ Ottawa, Childrens Hosp, Eastern Ontario Res Inst, Ottawa, ON, CanadaBulman, Dennis E.论文数: 0 引用数: 0 h-index: 0机构: Univ Ottawa, Childrens Hosp, Eastern Ontario Res Inst, Ottawa, ON, Canada Childrens Hosp Eastern Ontario, Newborn Screening Ontario, Ottawa, ON K1H 8L1, Canada Univ Ottawa, Childrens Hosp, Eastern Ontario Res Inst, Ottawa, ON, Canada