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- [41] De novo variants in SETD1B are associated with intellectual disability, epilepsy and autismHUMAN GENETICS, 2018, 137 (01) : 95 - 104Hiraide, Takuya论文数: 0 引用数: 0 h-index: 0机构: Hamamatsu Univ Sch Med, Dept Pediat, Hamamatsu, Shizuoka, Japan Hamamatsu Univ Sch Med, Dept Pediat, Hamamatsu, Shizuoka, JapanNakashima, Mitsuko论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa, Japan Hamamatsu Univ Sch Med, Dept Biochem, Hamamatsu, Shizuoka, Japan Hamamatsu Univ Sch Med, Dept Pediat, Hamamatsu, Shizuoka, Japan论文数: 引用数: h-index:机构:Fukuda, Tokiko论文数: 0 引用数: 0 h-index: 0机构: Hamamatsu Univ Sch Med, Dept Pediat, Hamamatsu, Shizuoka, Japan Hamamatsu Univ Sch Med, Dept Pediat, Hamamatsu, Shizuoka, JapanKato, Mitsuhiro论文数: 0 引用数: 0 h-index: 0机构: Showa Univ, Sch Med, Dept Pediat, Tokyo, Japan Hamamatsu Univ Sch Med, Dept Pediat, Hamamatsu, Shizuoka, JapanIkeda, Hiroko论文数: 0 引用数: 0 h-index: 0机构: NHO Shizuoka Inst Epilepsy & Neurol Disorders, Dept Pediat, Shizuoka, Japan Hamamatsu Univ Sch Med, Dept Pediat, Hamamatsu, Shizuoka, JapanSugie, Yoko论文数: 0 引用数: 0 h-index: 0机构: Aoi Cho Childrens Clin, Hamamatsu, Shizuoka, Japan Hamamatsu Univ Sch Med, Dept Pediat, Hamamatsu, Shizuoka, JapanAoto, Kazushi论文数: 0 引用数: 0 h-index: 0机构: Hamamatsu Univ Sch Med, Dept Biochem, Hamamatsu, Shizuoka, Japan Hamamatsu Univ Sch Med, Dept Pediat, Hamamatsu, Shizuoka, JapanKaname, Tadashi论文数: 0 引用数: 0 h-index: 0机构: Natl Ctr Child Hlth & Dev, Dept Genome Med, Tokyo, Japan Hamamatsu Univ Sch Med, Dept Pediat, Hamamatsu, Shizuoka, JapanNakabayashi, Kazuhiko论文数: 0 引用数: 0 h-index: 0机构: Natl Res Inst Child Hlth & Dev, Dept Maternal Fetal Biol, Tokyo, Japan Hamamatsu Univ Sch Med, Dept Pediat, Hamamatsu, Shizuoka, JapanOgata, Tsutomu论文数: 0 引用数: 0 h-index: 0机构: Hamamatsu Univ Sch Med, Dept Pediat, Hamamatsu, Shizuoka, Japan Hamamatsu Univ Sch Med, Dept Pediat, Hamamatsu, Shizuoka, JapanMatsumoto, Naomichi论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa, Japan Hamamatsu Univ Sch Med, Dept Pediat, Hamamatsu, Shizuoka, Japan论文数: 引用数: h-index:机构:
- [42] De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomaliesEuropean Journal of Human Genetics, 2019, 27 : 378 - 383Kohei Hamanaka论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsYuji Sugawara论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsTakeyoshi Shimoji论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsTone Irene Nordtveit论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsMitsuhiro Kato论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsMitsuko Nakashima论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsHirotomo Saitsu论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsToshimitsu Suzuki论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsKazuhiro Yamakawa论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsIngvild Aukrust论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsGunnar Houge论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsSatomi Mitsuhashi论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsAtsushi Takata论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsKazuhiro Iwama论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsAhmed Alkanaq论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsAtsushi Fujita论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsEri Imagawa论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsTakeshi Mizuguchi论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsNoriko Miyake论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsSatoko Miyatake论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsNaomichi Matsumoto论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human Genetics
- [43] DE NOVO MUTATIONS OF KIAA2022 IN FEMALES CAUSE INTELLECTUAL DISABILITY AND INTRACTABLE EPILEPSYEPILEPSIA, 2016, 57 : 113 - 114De lange, I论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Utrecht, Netherlands Univ Med Ctr Utrecht, Utrecht, NetherlandsHelbig, K.论文数: 0 引用数: 0 h-index: 0机构: Ambry Genet, Aliso Viejo, CA USA Univ Med Ctr Utrecht, Utrecht, NetherlandsWeckhuysen, S.论文数: 0 引用数: 0 h-index: 0机构: VIB, Antwerp, Belgium Univ Antwerp, Inst Born Bunge, Antwerp, Belgium Univ Hosp Antwerp, Antwerp, Belgium Univ Med Ctr Utrecht, Utrecht, NetherlandsMoller, R.论文数: 0 引用数: 0 h-index: 0机构: Danish Epilepsy Ctr, Dianalund, Denmark Univ Southern Denmark, Inst Reg Hlth Serv, Odense, Denmark Univ Med Ctr Utrecht, Utrecht, NetherlandsVelinov, M.论文数: 0 引用数: 0 h-index: 0机构: New York State Inst Basic Res Dev Disabil, 1050 Forest Hill Rd, Staten Isl, NY 10314 USA Univ Med Ctr Utrecht, Utrecht, NetherlandsDolzhanskaya, N.论文数: 0 引用数: 0 h-index: 0机构: New York State Inst Basic Res Dev Disabil, 1050 Forest Hill Rd, Staten Isl, NY 10314 USA Univ Med Ctr Utrecht, Utrecht, NetherlandsMarsh, E.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Philadelphia, PA 19104 USA Univ Med Ctr Utrecht, Utrecht, NetherlandsHelbig, I论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Philadelphia, PA 19104 USA Univ Med Ctr Utrecht, Utrecht, NetherlandsDevinsky, O.论文数: 0 引用数: 0 h-index: 0机构: NYU, Langone Med Ctr, New York, NY USA Univ Med Ctr Utrecht, Utrecht, NetherlandsTang, S.论文数: 0 引用数: 0 h-index: 0机构: Ambry Genet, Aliso Viejo, CA USA Univ Med Ctr Utrecht, Utrecht, Netherlands论文数: 引用数: h-index:机构:Myers, C.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Seattle, WA 98195 USA Univ Med Ctr Utrecht, Utrecht, NetherlandsVan Paesschen, W.论文数: 0 引用数: 0 h-index: 0机构: UZ Leuven, Leuven, Belgium Univ Med Ctr Utrecht, Utrecht, NetherlandsStriano, P.论文数: 0 引用数: 0 h-index: 0机构: Univ Genoa, G Gaslini Inst, Genoa, Italy Univ Med Ctr Utrecht, Utrecht, NetherlandsVan Gassen, K.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Utrecht, Netherlands Univ Med Ctr Utrecht, Utrecht, NetherlandsVan Kempen, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Utrecht, Netherlands Univ Med Ctr Utrecht, Utrecht, NetherlandsDe Kovel, C.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Utrecht, Netherlands Univ Med Ctr Utrecht, Utrecht, NetherlandsPiard, J.论文数: 0 引用数: 0 h-index: 0机构: Univ Franche Comte, Besancon, France Univ Med Ctr Utrecht, Utrecht, NetherlandsMinassian, B.论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Toronto, ON, Canada Univ Toronto, Toronto, ON, Canada Univ Med Ctr Utrecht, Utrecht, NetherlandsNezarati, M.论文数: 0 引用数: 0 h-index: 0机构: Mt Sinai Hosp, Toronto, ON, Canada Univ Med Ctr Utrecht, Utrecht, NetherlandsPessoa, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Fortaleza, Fortaleza, Ceara, Brazil Univ Med Ctr Utrecht, Utrecht, NetherlandsJacquette, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 06, Paris, France Univ Med Ctr Utrecht, Utrecht, NetherlandsVan't Slot, R.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Utrecht, Netherlands Univ Med Ctr Utrecht, Utrecht, NetherlandsVan Maldergem, L.论文数: 0 引用数: 0 h-index: 0机构: Univ Franche Comte, Besancon, France Univ Med Ctr Utrecht, Utrecht, NetherlandsBrilstra, E.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Utrecht, Netherlands Univ Med Ctr Utrecht, Utrecht, NetherlandsKoeleman, B.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Utrecht, Netherlands Univ Med Ctr Utrecht, Utrecht, Netherlands
- [44] A De Novo Supernumerary Genomic Discontinuous Ring Chromosome 21 in a Child With Mild Intellectual DisabilityAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2011, 155A (06) : 1425 - 1431Villa, Nicoletta论文数: 0 引用数: 0 h-index: 0机构: S Gerardo Hosp, Med Genet Lab, Monza, Italy Univ Milano Bicocca, Dipartimento Neurosci & Tecnol Biomed, Sch Med, I-20052 Monza, MI, Italy论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Redaelli, Serena论文数: 0 引用数: 0 h-index: 0机构: Univ Milano Bicocca, Dipartimento Neurosci & Tecnol Biomed, Sch Med, I-20052 Monza, MI, Italy Univ Milano Bicocca, Dipartimento Neurosci & Tecnol Biomed, Sch Med, I-20052 Monza, MI, ItalyColombo, Carla论文数: 0 引用数: 0 h-index: 0机构: S Gerardo Hosp, Neonatal Intens Care Unit, Monza, Italy Univ Milano Bicocca, Dipartimento Neurosci & Tecnol Biomed, Sch Med, I-20052 Monza, MI, ItalyNacinovich, Renata论文数: 0 引用数: 0 h-index: 0机构: S Gerardo Hosp, Dept Child & Adolescent Neuropsychiat, Monza, Italy Univ Milano Bicocca, Dipartimento Neurosci & Tecnol Biomed, Sch Med, I-20052 Monza, MI, ItalyBroggi, Fiorenza论文数: 0 引用数: 0 h-index: 0机构: S Gerardo Hosp, Dept Child & Adolescent Neuropsychiat, Monza, Italy Univ Milano Bicocca, Dipartimento Neurosci & Tecnol Biomed, Sch Med, I-20052 Monza, MI, ItalyLissoni, Sara论文数: 0 引用数: 0 h-index: 0机构: S Gerardo Hosp, Med Genet Lab, Monza, Italy Univ Milano Bicocca, Dipartimento Neurosci & Tecnol Biomed, Sch Med, I-20052 Monza, MI, ItalyBungaro, Silvia论文数: 0 引用数: 0 h-index: 0机构: Univ Milano Bicocca, S Gerardo Hosp, Pediat Clin, M Tettamanti Res Ctr, I-20052 Monza, MI, Italy Univ Milano Bicocca, Dipartimento Neurosci & Tecnol Biomed, Sch Med, I-20052 Monza, MI, ItalyAddya, Sankar论文数: 0 引用数: 0 h-index: 0机构: Thomas Jefferson Univ, Jefferson Med Coll, Dept Canc Biol, Kimmel Canc Ctr, Philadelphia, PA 19107 USA Univ Milano Bicocca, Dipartimento Neurosci & Tecnol Biomed, Sch Med, I-20052 Monza, MI, Italy论文数: 引用数: h-index:机构:Dalpra, Leda论文数: 0 引用数: 0 h-index: 0机构: Univ Milano Bicocca, Dipartimento Neurosci & Tecnol Biomed, Sch Med, I-20052 Monza, MI, Italy S Gerardo Hosp, Med Genet Lab, Monza, Italy Univ Milano Bicocca, Dipartimento Neurosci & Tecnol Biomed, Sch Med, I-20052 Monza, MI, Italy
- [45] A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disabilityEuropean Journal of Human Genetics, 2016, 24 : 838 - 843Anne-Laure Mosca-Boidron论文数: 0 引用数: 0 h-index: 0机构: Laboratoire de Cytogénétique,Lucie Gueneau论文数: 0 引用数: 0 h-index: 0机构: Laboratoire de Cytogénétique,Guillaume Huguet论文数: 0 引用数: 0 h-index: 0机构: Laboratoire de Cytogénétique,Alice Goldenberg论文数: 0 引用数: 0 h-index: 0机构: Laboratoire de Cytogénétique,Céline Henry论文数: 0 引用数: 0 h-index: 0机构: Laboratoire de Cytogénétique,Nadège Gigot论文数: 0 引用数: 0 h-index: 0机构: Laboratoire de Cytogénétique,Emilie Pallesi-Pocachard论文数: 0 引用数: 0 h-index: 0机构: Laboratoire de Cytogénétique,Antonio Falace论文数: 0 引用数: 0 h-index: 0机构: Laboratoire de Cytogénétique,Laurence Duplomb论文数: 0 引用数: 0 h-index: 0机构: Laboratoire de Cytogénétique,Julien Thevenon论文数: 0 引用数: 0 h-index: 0机构: Laboratoire de Cytogénétique,Yannis Duffourd论文数: 0 引用数: 0 h-index: 0机构: Laboratoire de Cytogénétique,Judith ST-Onge论文数: 0 引用数: 0 h-index: 0机构: Laboratoire de Cytogénétique,Pascal Chambon论文数: 0 引用数: 0 h-index: 0机构: Laboratoire de Cytogénétique,Jean-Baptiste Rivière论文数: 0 引用数: 0 h-index: 0机构: Laboratoire de Cytogénétique,Christel Thauvin-Robinet论文数: 0 引用数: 0 h-index: 0机构: Laboratoire de Cytogénétique,Patrick Callier论文数: 0 引用数: 0 h-index: 0机构: Laboratoire de Cytogénétique,Nathalie Marle论文数: 0 引用数: 0 h-index: 0机构: Laboratoire de Cytogénétique,Muriel Payet论文数: 0 引用数: 0 h-index: 0机构: Laboratoire de Cytogénétique,Clemence Ragon论文数: 0 引用数: 0 h-index: 0机构: Laboratoire de Cytogénétique,Hany Goubran Botros论文数: 0 引用数: 0 h-index: 0机构: Laboratoire de Cytogénétique,Julien Buratti论文数: 0 引用数: 0 h-index: 0机构: Laboratoire de Cytogénétique,Sophie Calderari论文数: 0 引用数: 0 h-index: 0机构: Laboratoire de Cytogénétique,Guillaume Dumas论文数: 0 引用数: 0 h-index: 0机构: Laboratoire de Cytogénétique,Richard Delorme论文数: 0 引用数: 0 h-index: 0机构: Laboratoire de Cytogénétique,Nathalie Lagarde论文数: 0 引用数: 0 h-index: 0机构: Laboratoire de Cytogénétique,Jean-Michel Pinoit论文数: 0 引用数: 0 h-index: 0机构: Laboratoire de Cytogénétique,Antoine Rosier论文数: 0 引用数: 0 h-index: 0机构: Laboratoire de Cytogénétique,Alice Masurel-Paulet论文数: 0 引用数: 0 h-index: 0机构: Laboratoire de Cytogénétique,Carlos Cardoso论文数: 0 引用数: 0 h-index: 0机构: Laboratoire de Cytogénétique,Francine Mugneret论文数: 0 引用数: 0 h-index: 0机构: Laboratoire de Cytogénétique,Pascale Saugier-Veber论文数: 0 引用数: 0 h-index: 0机构: Laboratoire de Cytogénétique,Dominique Campion论文数: 0 引用数: 0 h-index: 0机构: Laboratoire de Cytogénétique,Laurence Faivre论文数: 0 引用数: 0 h-index: 0机构: Laboratoire de Cytogénétique,Thomas Bourgeron论文数: 0 引用数: 0 h-index: 0机构: Laboratoire de Cytogénétique,
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- [47] De novo Xq21.31-q21.32 duplication in intellectual disability: a new reportCLINICAL DYSMORPHOLOGY, 2019, 28 (02) : 98 - 100论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Modena, Piergiorgio论文数: 0 引用数: 0 h-index: 0机构: St Anna Hosp, Lab Med Genet, ASST Lariana, Como, Italy Univ Insubria, Hosp F Del Ponte, Woman & Child Dept, Varese, ItalySelicorni, Angelo论文数: 0 引用数: 0 h-index: 0机构: St Anna Hosp, Pediat Dept, ASST Lariana, Via Ravona 20, I-22042 Como, Italy Univ Insubria, Hosp F Del Ponte, Woman & Child Dept, Varese, Italy
- [48] De novo variants in SETD1B are associated with intellectual disability, epilepsy and autismHuman Genetics, 2018, 137 : 95 - 104Takuya Hiraide论文数: 0 引用数: 0 h-index: 0机构: Hamamatsu University School of Medicine,Department of PediatricsMitsuko Nakashima论文数: 0 引用数: 0 h-index: 0机构: Hamamatsu University School of Medicine,Department of PediatricsKaori Yamoto论文数: 0 引用数: 0 h-index: 0机构: Hamamatsu University School of Medicine,Department of PediatricsTokiko Fukuda论文数: 0 引用数: 0 h-index: 0机构: Hamamatsu University School of Medicine,Department of PediatricsMitsuhiro Kato论文数: 0 引用数: 0 h-index: 0机构: Hamamatsu University School of Medicine,Department of PediatricsHiroko Ikeda论文数: 0 引用数: 0 h-index: 0机构: Hamamatsu University School of Medicine,Department of PediatricsYoko Sugie论文数: 0 引用数: 0 h-index: 0机构: Hamamatsu University School of Medicine,Department of PediatricsKazushi Aoto论文数: 0 引用数: 0 h-index: 0机构: Hamamatsu University School of Medicine,Department of PediatricsTadashi Kaname论文数: 0 引用数: 0 h-index: 0机构: Hamamatsu University School of Medicine,Department of PediatricsKazuhiko Nakabayashi论文数: 0 引用数: 0 h-index: 0机构: Hamamatsu University School of Medicine,Department of PediatricsTsutomu Ogata论文数: 0 引用数: 0 h-index: 0机构: Hamamatsu University School of Medicine,Department of PediatricsNaomichi Matsumoto论文数: 0 引用数: 0 h-index: 0机构: Hamamatsu University School of Medicine,Department of PediatricsHirotomo Saitsu论文数: 0 引用数: 0 h-index: 0机构: Hamamatsu University School of Medicine,Department of Pediatrics
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- [50] Non-familial cases of intellectual disability could be linked to de novo genetic mutationsAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2013, 161A (01) : VII - VIIILevenson, Deborah论文数: 0 引用数: 0 h-index: 0