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- [32] Floating-Harbor syndrome in two sisters: Autosomal recessive inheritance or germinal mosaicism?GENETIC COUNSELING, 2003, 14 (04): : 431 - 433Ioan, DM论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Gasthuisberg, Ctr Human Genet, B-3000 Louvain, BelgiumFryns, JP论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Gasthuisberg, Ctr Human Genet, B-3000 Louvain, Belgium
- [33] The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAPORPHANET JOURNAL OF RARE DISEASES, 2013, 8Nikkel, Sarah M.论文数: 0 引用数: 0 h-index: 0机构: Univ Ottawa, Childrens Hosp Eastern Ontario, Ottawa, ON K1H 8L1, Canada Univ Ottawa, Childrens Hosp Eastern Ontario, Ottawa, ON K1H 8L1, CanadaDauber, Andrew论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Div Endocrinol, Boston, MA USA Univ Ottawa, Childrens Hosp Eastern Ontario, Ottawa, ON K1H 8L1, Canadade Munnik, Sonja论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands Univ Ottawa, Childrens Hosp Eastern Ontario, Ottawa, ON K1H 8L1, CanadaConnolly, Meghan论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Div Genet, Boston, MA USA Childrens Hosp, Manton Ctr Orphan Dis Res, Boston, MA 02115 USA Univ Ottawa, Childrens Hosp Eastern Ontario, Ottawa, ON K1H 8L1, CanadaHood, Rebecca L.论文数: 0 引用数: 0 h-index: 0机构: Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON K1H 8L1, Canada Univ Ottawa, Childrens Hosp Eastern Ontario, Ottawa, ON K1H 8L1, CanadaCaluseriu, Oana论文数: 0 引用数: 0 h-index: 0机构: Univ Alberta, Dept Med Genet, Edmonton, AB, Canada Univ Ottawa, Childrens Hosp Eastern Ontario, Ottawa, ON K1H 8L1, CanadaHurst, Jane论文数: 0 引用数: 0 h-index: 0机构: Great Ormond St Hosp NHS Fdn Trust, NE Thames Genet Serv, London, England Univ Ottawa, Childrens Hosp Eastern Ontario, Ottawa, ON K1H 8L1, Canada论文数: 引用数: h-index:机构:Nowaczyk, Malgorzata J. M.论文数: 0 引用数: 0 h-index: 0机构: McMaster Univ, Med Ctr, Hamilton, ON, Canada Univ Ottawa, Childrens Hosp Eastern Ontario, Ottawa, ON K1H 8L1, CanadaAfenjar, Alexandra论文数: 0 引用数: 0 h-index: 0机构: Hop Armand Trousseau, AP HP, Serv Neuropediat, Ctr Reference Anomalies Dev & Syndromes Malformat, Paris, France Univ Ottawa, Childrens Hosp Eastern Ontario, Ottawa, ON K1H 8L1, CanadaAlbrecht, Beate论文数: 0 引用数: 0 h-index: 0机构: Univ Klinikum Essen, Inst Humangenet, Essen, Germany Univ Ottawa, Childrens Hosp Eastern Ontario, Ottawa, ON K1H 8L1, CanadaAllanson, Judith E.论文数: 0 引用数: 0 h-index: 0机构: Univ Ottawa, Childrens Hosp Eastern Ontario, Ottawa, ON K1H 8L1, Canada Univ Ottawa, Childrens Hosp Eastern Ontario, Ottawa, ON K1H 8L1, CanadaBalestri, Paolo论文数: 0 引用数: 0 h-index: 0机构: Univ Siena, Dept Mol Biol, Med Genet Unit, I-53100 Siena, Italy Univ Ottawa, Childrens Hosp Eastern Ontario, Ottawa, ON K1H 8L1, CanadaBen-Omran, Tawfeg论文数: 0 引用数: 0 h-index: 0机构: Hamad Med Corp, Dept Paediat, Doha, Qatar Univ Ottawa, Childrens Hosp Eastern Ontario, Ottawa, ON K1H 8L1, CanadaBrancati, Francesco论文数: 0 引用数: 0 h-index: 0机构: Univ Siena, Dept Mol Biol, Med Genet Unit, I-53100 Siena, Italy Policlin Tor Vergata Univ Hosp, Rome, Italy Univ G DAnnunzio, Dept Med Oral & Technol Sci, Chieti, Italy Univ Ottawa, Childrens Hosp Eastern Ontario, Ottawa, ON K1H 8L1, CanadaCordeiro, Isabel论文数: 0 引用数: 0 h-index: 0机构: Hosp Santa Maria, Lisbon, Portugal Univ Ottawa, Childrens Hosp Eastern Ontario, Ottawa, ON K1H 8L1, Canadada Cunha, Bruna Santos论文数: 0 引用数: 0 h-index: 0机构: Pontificia Univ Catolica Rio Grande Do Sul, Fac Med, Rio Grande Do Sul, Brazil Univ Ottawa, Childrens Hosp Eastern Ontario, Ottawa, ON K1H 8L1, CanadaDelaney, Louisa A.论文数: 0 引用数: 0 h-index: 0机构: Pontificia Univ Catolica Rio Grande Do Sul, Fac Med, Rio Grande Do Sul, Brazil Univ Ottawa, Childrens Hosp Eastern Ontario, Ottawa, ON K1H 8L1, CanadaDestree, Anne论文数: 0 引用数: 0 h-index: 0机构: Ctr Genet Humaine, Inst Pathol & Genet, B-6041 Charleroi, Belgium Univ Ottawa, Childrens Hosp Eastern Ontario, Ottawa, ON K1H 8L1, CanadaFitzpatrick, David论文数: 0 引用数: 0 h-index: 0机构: Univ Edinburgh, Western Gen Hosp, MRC, Human Genet Unit MRC IGMM, Edinburgh, Midlothian, Scotland Univ Ottawa, Childrens Hosp Eastern Ontario, Ottawa, ON K1H 8L1, CanadaForzano, Francesca论文数: 0 引用数: 0 h-index: 0机构: Galliera Hosp, Med Genet Unit, Genoa, Italy Univ Ottawa, Childrens Hosp Eastern Ontario, Ottawa, ON K1H 8L1, CanadaGhali, Neeti论文数: 0 引用数: 0 h-index: 0机构: Northwick Pk Hosp & Clin Res Ctr, North West Thames Reg Genet Serv, Harrow HA1 3UJ, Middx, England Univ Ottawa, Childrens Hosp Eastern Ontario, Ottawa, ON K1H 8L1, CanadaGillies, Greta论文数: 0 引用数: 0 h-index: 0机构: Royal Childrens Hosp, Murdoch Childrens Res Inst, Bruce Lefroy Ctr, Melbourne, Vic, Australia Univ Ottawa, Childrens Hosp Eastern Ontario, Ottawa, ON K1H 8L1, CanadaHarwood, Katerina论文数: 0 引用数: 0 h-index: 0机构: St Josephs Childrens Hosp, Div Pediat Endocrinol, Paterson, NJ USA Univ Ottawa, Childrens Hosp Eastern Ontario, Ottawa, ON K1H 8L1, CanadaHendriks, Yvonne M. C.论文数: 0 引用数: 0 h-index: 0机构: Free Univ Amsterdam, Med Ctr, Dept Clin Genet, Amsterdam, Netherlands Univ Ottawa, Childrens Hosp Eastern Ontario, Ottawa, ON K1H 8L1, CanadaHeron, Delphine论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 06, Grop Hosp Pitie Salpetriere, Ctr Reference Deficiences Intellectuelles Causes, Dept Genet & Cytogenet, Paris, France Univ Ottawa, Childrens Hosp Eastern Ontario, Ottawa, ON K1H 8L1, CanadaHoischen, Alexander论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Nijmegen Ctr Mol Life Sci, Dept Human Genet,Inst Genet & Metab Dis, NL-6525 ED Nijmegen, Netherlands Univ Ottawa, Childrens Hosp Eastern Ontario, Ottawa, ON K1H 8L1, CanadaHoney, Engela Magdalena论文数: 0 引用数: 0 h-index: 0机构: Univ Pretoria, Dept Genet, ZA-0002 Pretoria, South Africa Univ Ottawa, Childrens Hosp Eastern Ontario, Ottawa, ON K1H 8L1, CanadaHoefsloot, Lies H.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands Univ Ottawa, Childrens Hosp Eastern Ontario, Ottawa, ON K1H 8L1, CanadaIbrahim, Jennifer论文数: 0 引用数: 0 h-index: 0机构: St Josephs Childrens Hosp, Div Genet, Paterson, NJ USA Univ Ottawa, Childrens Hosp Eastern Ontario, Ottawa, ON K1H 8L1, CanadaJacob, Claire M.论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, Serv Neurogenet, Paris, France Univ Ottawa, Childrens Hosp Eastern Ontario, Ottawa, ON K1H 8L1, CanadaKant, Sarina G.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Ctr Human & Clin Genet CHKG, Dept Clin Genet, Leiden, Netherlands Univ Ottawa, Childrens Hosp Eastern Ontario, Ottawa, ON K1H 8L1, CanadaKim, Chong Ae论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Fac Med, Hosp Clin, Unidade Genet,Inst Crianca, Sao Paulo, Brazil Univ Ottawa, Childrens Hosp Eastern Ontario, Ottawa, ON K1H 8L1, CanadaKirk, Edwin P.论文数: 0 引用数: 0 h-index: 0机构: Sydney Childrens Hosp, Dept Med Genet, Sydney, NSW, Australia Univ Ottawa, Childrens Hosp Eastern Ontario, Ottawa, ON K1H 8L1, CanadaKnoers, Nine V. A. M.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, Netherlands Univ Ottawa, Childrens Hosp Eastern Ontario, Ottawa, ON K1H 8L1, CanadaLacombe, Didier论文数: 0 引用数: 0 h-index: 0机构: Univ Bordeaux, Ctr Hosp Univ Bordeaux, Lab Malad Rares Genet & Metab, Serv Genet Med, Bordeaux, France Univ Ottawa, Childrens Hosp Eastern Ontario, Ottawa, ON K1H 8L1, CanadaLee, Chung论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Pediat, Div Genet, San Francisco, CA USA Univ Ottawa, Childrens Hosp Eastern Ontario, Ottawa, ON K1H 8L1, CanadaLo, Ivan F. M.论文数: 0 引用数: 0 h-index: 0机构: Univ Ottawa, Childrens Hosp Eastern Ontario, Ottawa, ON K1H 8L1, CanadaLucas, Luiza S.论文数: 0 引用数: 0 h-index: 0机构: Pontificia Univ Catolica Rio Grande Do Sul, Fac Med, Rio Grande Do Sul, Brazil Univ Ottawa, Childrens Hosp Eastern Ontario, Ottawa, ON K1H 8L1, CanadaMari, Francesca论文数: 0 引用数: 0 h-index: 0机构: Univ Ottawa, Childrens Hosp Eastern Ontario, Ottawa, ON K1H 8L1, CanadaMericq, Veronica论文数: 0 引用数: 0 h-index: 0机构: Univ Chile, Fac Med, Inst Maternal & Child Res, Santiago 7, Chile Univ Ottawa, Childrens Hosp Eastern Ontario, Ottawa, ON K1H 8L1, CanadaMoilanen, Jukka S.论文数: 0 引用数: 0 h-index: 0机构: Oulu Univ Hosp, Dept Clin Genet, Oulu, Finland Univ Oulu, Oulu, Finland Univ Ottawa, Childrens Hosp Eastern Ontario, Ottawa, ON K1H 8L1, CanadaMoller, Sanne Traasdahl论文数: 0 引用数: 0 h-index: 0机构: Odense Univ Hosp, Dept Clin Genet, DK-5000 Odense C, Denmark Univ Ottawa, Childrens Hosp Eastern Ontario, Ottawa, ON K1H 8L1, CanadaMoortgat, Stephanie论文数: 0 引用数: 0 h-index: 0机构: Ctr Genet Humaine, Inst Pathol & Genet, B-6041 Charleroi, Belgium Univ Ottawa, Childrens Hosp Eastern Ontario, Ottawa, ON K1H 8L1, CanadaPilz, Daniela T.论文数: 0 引用数: 0 h-index: 0机构: Univ Wales Hosp, Inst Med Genet, Cardiff CF14 3PY, S Glam, Wales Univ Ottawa, Childrens Hosp Eastern Ontario, Ottawa, ON K1H 8L1, CanadaPope, Kate论文数: 0 引用数: 0 h-index: 0机构: Royal Childrens Hosp, Murdoch Childrens Res Inst, Bruce Lefroy Ctr, Melbourne, Vic, Australia Univ Ottawa, Childrens Hosp Eastern Ontario, Ottawa, ON K1H 8L1, CanadaPrice, Susan论文数: 0 引用数: 0 h-index: 0机构: Northampton Gen Hosp Trust, Northampton, England Univ Ottawa, Childrens Hosp Eastern Ontario, Ottawa, ON K1H 8L1, CanadaRenieri, Alessandra论文数: 0 引用数: 0 h-index: 0机构: Univ Siena, Dept Mol Biol, Med Genet Unit, I-53100 Siena, Italy Univ Ottawa, Childrens Hosp Eastern Ontario, Ottawa, ON K1H 8L1, CanadaSa, Joaquim论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Coimbra, Serv Genet Med, Coimbra, Portugal Univ Coimbra, Coimbra, Portugal Univ Ottawa, Childrens Hosp Eastern Ontario, Ottawa, ON K1H 8L1, CanadaSchoots, Jeroen论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands Univ Ottawa, Childrens Hosp Eastern Ontario, Ottawa, ON K1H 8L1, Canada
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- [38] The ATPase SRCAP is associated with the mitotic apparatus, uncovering novel molecular aspects of Floating-Harbor syndromeBMC Biology, 19Giovanni Messina论文数: 0 引用数: 0 h-index: 0机构: Dipartimento di Biologia e Biotecnologie “Charles Darwin” Sapienza Università di Roma,Yuri Prozzillo论文数: 0 引用数: 0 h-index: 0机构: Dipartimento di Biologia e Biotecnologie “Charles Darwin” Sapienza Università di Roma,Francesca Delle Monache论文数: 0 引用数: 0 h-index: 0机构: Dipartimento di Biologia e Biotecnologie “Charles Darwin” Sapienza Università di Roma,Maria Virginia Santopietro论文数: 0 引用数: 0 h-index: 0机构: Dipartimento di Biologia e Biotecnologie “Charles Darwin” Sapienza Università di Roma,Maria Teresa Atterrato论文数: 0 引用数: 0 h-index: 0机构: Dipartimento di Biologia e Biotecnologie “Charles Darwin” Sapienza Università di Roma,Patrizio Dimitri论文数: 0 引用数: 0 h-index: 0机构: Dipartimento di Biologia e Biotecnologie “Charles Darwin” Sapienza Università di Roma,
- [39] Long-Term Follow-Up Study for a Patient with Floating-Harbor Syndrome Due to a Hotspot SRCAP MutationAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2014, 164 (03) : 731 - 735Nagasaki, Keisuke论文数: 0 引用数: 0 h-index: 0机构: Natl Res Inst Child Hlth & Dev, Dept Mol Endocrinol, Tokyo, Japan Niigata Univ, Grad Sch Med & Dent Sci, Dept Homeostat Regulat & Dev, Div Pediat, Niigata 9518510, Japan Natl Res Inst Child Hlth & Dev, Dept Mol Endocrinol, Tokyo, JapanAsami, Tadashi论文数: 0 引用数: 0 h-index: 0机构: Niigata Seiryo Univ, Dept Nursing, Fac Nursing Social Welf & Psychol, Niigata, Japan Natl Res Inst Child Hlth & Dev, Dept Mol Endocrinol, Tokyo, JapanSato, Hidetoshi论文数: 0 引用数: 0 h-index: 0机构: Niigata Univ, Grad Sch Med & Dent Sci, Dept Homeostat Regulat & Dev, Div Pediat, Niigata 9518510, Japan Natl Res Inst Child Hlth & Dev, Dept Mol Endocrinol, Tokyo, JapanOgawa, Yohei论文数: 0 引用数: 0 h-index: 0机构: Niigata Univ, Grad Sch Med & Dent Sci, Dept Homeostat Regulat & Dev, Div Pediat, Niigata 9518510, Japan Natl Res Inst Child Hlth & Dev, Dept Mol Endocrinol, Tokyo, JapanKikuchi, Toru论文数: 0 引用数: 0 h-index: 0机构: Niigata Univ, Grad Sch Med & Dent Sci, Dept Homeostat Regulat & Dev, Div Pediat, Niigata 9518510, Japan Natl Res Inst Child Hlth & Dev, Dept Mol Endocrinol, Tokyo, JapanSaitoh, Akihiko论文数: 0 引用数: 0 h-index: 0机构: Niigata Univ, Grad Sch Med & Dent Sci, Dept Homeostat Regulat & Dev, Div Pediat, Niigata 9518510, Japan Natl Res Inst Child Hlth & Dev, Dept Mol Endocrinol, Tokyo, JapanOgata, Tsutomu论文数: 0 引用数: 0 h-index: 0机构: Natl Res Inst Child Hlth & Dev, Dept Mol Endocrinol, Tokyo, Japan Hamamatsu Univ Sch Med, Dept Pediat, Hamamatsu, Shizuoka 4313192, Japan Natl Res Inst Child Hlth & Dev, Dept Mol Endocrinol, Tokyo, JapanFukami, Maki论文数: 0 引用数: 0 h-index: 0机构: Natl Res Inst Child Hlth & Dev, Dept Mol Endocrinol, Tokyo, Japan Natl Res Inst Child Hlth & Dev, Dept Mol Endocrinol, Tokyo, Japan
- [40] The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAPOrphanet Journal of Rare Diseases, 8Sarah M Nikkel论文数: 0 引用数: 0 h-index: 0机构: University of Ottawa,Children’s Hospital of Eastern OntarioAndrew Dauber论文数: 0 引用数: 0 h-index: 0机构: University of Ottawa,Children’s Hospital of Eastern OntarioSonja de Munnik论文数: 0 引用数: 0 h-index: 0机构: University of Ottawa,Children’s Hospital of Eastern OntarioMeghan Connolly论文数: 0 引用数: 0 h-index: 0机构: University of Ottawa,Children’s Hospital of Eastern OntarioRebecca L Hood论文数: 0 引用数: 0 h-index: 0机构: University of Ottawa,Children’s Hospital of Eastern OntarioOana Caluseriu论文数: 0 引用数: 0 h-index: 0机构: University of Ottawa,Children’s Hospital of Eastern OntarioJane Hurst论文数: 0 引用数: 0 h-index: 0机构: University of Ottawa,Children’s Hospital of Eastern OntarioUsha Kini论文数: 0 引用数: 0 h-index: 0机构: University of Ottawa,Children’s Hospital of Eastern OntarioMalgorzata J M Nowaczyk论文数: 0 引用数: 0 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