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- [1] Autosomal dominant intellectual disabilityMEDIZINISCHE GENETIK, 2018, 30 (03): : 318 - 322Wieczorek, Dagmar论文数: 0 引用数: 0 h-index: 0机构: Heinrich Heine Univ, Univ Klinikum Dusseldorf, Inst Humangenet, Univ Str 1, D-40225 Dusseldorf, Germany Heinrich Heine Univ, Univ Klinikum Dusseldorf, Inst Humangenet, Univ Str 1, D-40225 Dusseldorf, Germany
- [2] De novo diagnostics of patients with intellectual disabilityBMC Proceedings, 6 (Suppl 6)Joris A Veltman论文数: 0 引用数: 0 h-index: 0机构: Radboud University Nijmegen Medical Centre,Department of Human Genetics
- [3] De Novo Autosomal Dominant Mutation in SYNGAP1AUTISM RESEARCH, 2011, 4 (02) : 155 - 156Cook, Edwin H., Jr.论文数: 0 引用数: 0 h-index: 0机构: Univ Illinois, Dept Psychiat, Inst Juvenile Res, Chicago, IL 60612 USA Univ Illinois, Dept Psychiat, Inst Juvenile Res, Chicago, IL 60612 USA
- [4] De Novo Mutations in Moderate or Severe Intellectual DisabilityPLOS GENETICS, 2014, 10 (10):Hamdan, Fadi F.论文数: 0 引用数: 0 h-index: 0机构: CHU St Justine, Res Ctr, Montreal, PQ, Canada CHU St Justine, Res Ctr, Montreal, PQ, CanadaSrour, Myriam论文数: 0 引用数: 0 h-index: 0机构: CHU St Justine, Res Ctr, Montreal, PQ, Canada Montreal Childrens Hosp, Div Pediat Neurol, Montreal, PQ H3H 1P3, Canada CHU St Justine, Res Ctr, Montreal, PQ, CanadaCapo-Chichi, Jose-Mario论文数: 0 引用数: 0 h-index: 0机构: CHU St Justine, Res Ctr, Montreal, PQ, Canada CHU St Justine, Res Ctr, Montreal, PQ, CanadaDaoud, Hussein论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Montreal Neurol Inst, Montreal, PQ, Canada CHU St Justine, Res Ctr, Montreal, PQ, CanadaNassif, Christina论文数: 0 引用数: 0 h-index: 0机构: CHU St Justine, Res Ctr, Montreal, PQ, Canada CHU St Justine, Res Ctr, Montreal, PQ, CanadaPatry, Lysanne论文数: 0 引用数: 0 h-index: 0机构: CHU St Justine, Res Ctr, Montreal, PQ, Canada CHU St Justine, Res Ctr, Montreal, PQ, CanadaMassicotte, Christine论文数: 0 引用数: 0 h-index: 0机构: CHU St Justine, Res Ctr, Montreal, PQ, Canada CHU St Justine, Res Ctr, Montreal, PQ, CanadaAmbalavanan, Amirthagowri论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Montreal Neurol Inst, Montreal, PQ, Canada CHU St Justine, Res Ctr, Montreal, PQ, Canada论文数: 引用数: h-index:机构:Diallo, Ousmane论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Montreal Neurol Inst, Montreal, PQ, Canada CHU St Justine, Res Ctr, Montreal, PQ, CanadaHenrion, Edouard论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Montreal Neurol Inst, Montreal, PQ, Canada CHU St Justine, Res Ctr, Montreal, PQ, CanadaDionne-Laporte, Alexandre论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Montreal Neurol Inst, Montreal, PQ, Canada CHU St Justine, Res Ctr, Montreal, PQ, CanadaFougerat, Anne论文数: 0 引用数: 0 h-index: 0机构: CHU St Justine, Res Ctr, Montreal, PQ, Canada CHU St Justine, Res Ctr, Montreal, PQ, CanadaPshezhetsky, Alexey V.论文数: 0 引用数: 0 h-index: 0机构: CHU St Justine, Res Ctr, Montreal, PQ, Canada CHU St Justine, Res Ctr, Montreal, PQ, CanadaVenkateswaran, Sunita论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Eastern Ontario, Div Neurol, Ottawa, ON K1H 8L1, Canada CHU St Justine, Res Ctr, Montreal, PQ, CanadaRouleau, Guy A.论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Montreal Neurol Inst, Montreal, PQ, Canada CHU St Justine, Res Ctr, Montreal, PQ, CanadaMichaud, Jacques L.论文数: 0 引用数: 0 h-index: 0机构: CHU St Justine, Res Ctr, Montreal, PQ, Canada Univ Montreal, Dept Pediat, Montreal, PQ H3C 3J7, Canada Univ Montreal, Dept Neurosci, Montreal, PQ, Canada CHU St Justine, Res Ctr, Montreal, PQ, Canada
- [5] Regulatory de novo mutations underlying intellectual disabilityLIFE SCIENCE ALLIANCE, 2023, 6 (05)Vas, Matias G. De论文数: 0 引用数: 0 h-index: 0机构: Imperial Coll London, Dept Metab Digest & Reprod, Sect Genet & Genom, London, England Imperial Coll London, Dept Metab Digest & Reprod, Sect Genet & Genom, London, EnglandBoulet, Fanny论文数: 0 引用数: 0 h-index: 0机构: Queen Mary Univ London, Blizard Inst, Barts & London Sch Med & Dent, London, England Imperial Coll London, Dept Metab Digest & Reprod, Sect Genet & Genom, London, EnglandJoshi, Shweta S.论文数: 0 引用数: 0 h-index: 0机构: Imperial Coll London, Dept Metab Digest & Reprod, Sect Genet & Genom, London, England Imperial Coll London, Dept Metab Digest & Reprod, Sect Genet & Genom, London, EnglandGarstang, Myles G.论文数: 0 引用数: 0 h-index: 0机构: Queen Mary Univ London, Blizard Inst, Barts & London Sch Med & Dent, London, England Univ Essex, Sch Biol Sci, Colchester, England Imperial Coll London, Dept Metab Digest & Reprod, Sect Genet & Genom, London, EnglandKhan, Tahir N.论文数: 0 引用数: 0 h-index: 0机构: Queen Mary Univ London, Blizard Inst, Barts & London Sch Med & Dent, London, England Natl Univ Med Sci, Dept Biol Sci, Rawalpindi, Pakistan Imperial Coll London, Dept Metab Digest & Reprod, Sect Genet & Genom, London, EnglandAtla, Goutham论文数: 0 引用数: 0 h-index: 0机构: Imperial Coll London, Dept Metab Digest & Reprod, Sect Genet & Genom, London, England Barcelona Inst Sci & Technol, Ctr Genom Regulat, Regulatory Genom & Diabet, Barcelona, Spain Ctr Invest Biomed Red Diabet & Enfermedades Metab, Barcelona, Spain Imperial Coll London, Dept Metab Digest & Reprod, Sect Genet & Genom, London, England论文数: 引用数: h-index:机构:Moore, David论文数: 0 引用数: 0 h-index: 0机构: Western Gen Hosp, South East Scotland Reg Genet Serv, Edinburgh, Scotland Imperial Coll London, Dept Metab Digest & Reprod, Sect Genet & Genom, London, EnglandCebola, Ines论文数: 0 引用数: 0 h-index: 0机构: Imperial Coll London, Dept Metab Digest & Reprod, Sect Genet & Genom, London, England Imperial Coll London, Dept Metab Digest & Reprod, Sect Genet & Genom, London, EnglandZhang, Shuchen论文数: 0 引用数: 0 h-index: 0机构: Imperial Coll London, Inst Reprod & Dev Biol, Fac Med, London, England Imperial Coll London, Dept Metab Digest & Reprod, Sect Genet & Genom, London, EnglandCui, Wei论文数: 0 引用数: 0 h-index: 0机构: Imperial Coll London, Inst Reprod & Dev Biol, Fac Med, London, England Imperial Coll London, Dept Metab Digest & Reprod, Sect Genet & Genom, London, EnglandLampe, Anne K.论文数: 0 引用数: 0 h-index: 0机构: Western Gen Hosp, South East Scotland Reg Genet Serv, Edinburgh, Scotland Imperial Coll London, Dept Metab Digest & Reprod, Sect Genet & Genom, London, EnglandLam, Wayne W.论文数: 0 引用数: 0 h-index: 0机构: Western Gen Hosp, South East Scotland Reg Genet Serv, Edinburgh, Scotland Imperial Coll London, Dept Metab Digest & Reprod, Sect Genet & Genom, London, EnglandFerrer, Jorge论文数: 0 引用数: 0 h-index: 0机构: Imperial Coll London, Dept Metab Digest & Reprod, Sect Genet & Genom, London, England Barcelona Inst Sci & Technol, Ctr Genom Regulat, Regulatory Genom & Diabet, Barcelona, Spain Ctr Invest Biomed Red Diabet & Enfermedades Metab, Barcelona, Spain Imperial Coll London, Dept Metab Digest & Reprod, Sect Genet & Genom, London, EnglandPradeepa, Madapura M.论文数: 0 引用数: 0 h-index: 0机构: Queen Mary Univ London, Blizard Inst, Barts & London Sch Med & Dent, London, England Univ Essex, Sch Biol Sci, Colchester, England Imperial Coll London, Dept Metab Digest & Reprod, Sect Genet & Genom, London, EnglandAtanur, Santosh S.论文数: 0 引用数: 0 h-index: 0机构: Imperial Coll London, Dept Metab Digest & Reprod, Sect Genet & Genom, London, England Imperial Coll London, NIHR Imperial Biomed Res Ctr, ITMAT Data Sci Grp, London, England Univ Edinburgh, Ctr Genom & Expt Med, Edinburgh, Scotland Imperial Coll London, Dept Metab Digest & Reprod, Sect Genet & Genom, London, England
- [6] A de novo variant in ZBTB18 gene caused autosomal dominant non-syndromic intellectual disability 22 syndrome: A case report and literature reviewMEDICINE, 2024, 103 (02) : E35908Yang, Fan论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Shanghai Childrens Med Ctr, Clin Res Ward, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Shanghai Childrens Med Ctr, Clin Res Ward, Shanghai, Peoples R ChinaDing, Yu论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Shanghai Childrens Med Ctr, Dept Endocrinol & Metab, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Shanghai Childrens Med Ctr, Clin Res Ward, Shanghai, Peoples R ChinaWang, Yirou论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Shanghai Childrens Med Ctr, Dept Endocrinol & Metab, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Shanghai Childrens Med Ctr, Clin Res Ward, Shanghai, Peoples R ChinaZhang, Qingwen论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Shanghai Childrens Med Ctr, Dept Endocrinol & Metab, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Shanghai Childrens Med Ctr, Clin Res Ward, Shanghai, Peoples R ChinaLi, Hao论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Shanghai Childrens Med Ctr, Clin Res Ward, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Shanghai Childrens Med Ctr, Dept Pharm, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Shanghai Childrens Med Ctr, Clin Res Ward, Shanghai, Peoples R ChinaYu, Tingting论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Shanghai Childrens Med Ctr, Dept Med Genet & Mol Diagnost Lab, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Shanghai Childrens Med Ctr, Clin Res Ward, Shanghai, Peoples R ChinaChang, Guoying论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Shanghai Childrens Med Ctr, Clin Res Ward, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Shanghai Childrens Med Ctr, Dept Endocrinol & Metab, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Shanghai Childrens Med Ctr, Clin Res Ward, Shanghai, Peoples R ChinaWang, Xiumin论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Shanghai Childrens Med Ctr, Clin Res Ward, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Shanghai Childrens Med Ctr, Dept Endocrinol & Metab, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Shanghai Childrens Med Ctr, Sch Med, Dept Endocrinol & Metab, Shanghai 200127, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Shanghai Childrens Med Ctr, Clin Res Ward, Shanghai, Peoples R China
- [7] Involvement of FMN2 in nonsyndromic autosomal-dominant intellectual disabilityEUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 1391 - 1391Babikyan, D. T.论文数: 0 引用数: 0 h-index: 0机构: Ctr Med Genet & Primary Hlth Care, Yerevan, Armenia Ctr Med Genet & Primary Hlth Care, Yerevan, ArmeniaMidyan, S.论文数: 0 引用数: 0 h-index: 0机构: Ctr Med Genet & Primary Hlth Care, Yerevan, Armenia Ctr Med Genet & Primary Hlth Care, Yerevan, ArmeniaHovhannisyan, A.论文数: 0 引用数: 0 h-index: 0机构: Ctr Med Genet & Primary Hlth Care, Yerevan, Armenia Ctr Med Genet & Primary Hlth Care, Yerevan, ArmeniaSargsyan, T.论文数: 0 引用数: 0 h-index: 0机构: Ctr Med Genet & Primary Hlth Care, Yerevan, Armenia Ctr Med Genet & Primary Hlth Care, Yerevan, Armenia
- [8] A novel de novo POGZ mutation in a patient with intellectual disabilityJournal of Human Genetics, 2016, 61 : 357 - 359Bo Tan论文数: 0 引用数: 0 h-index: 0机构: State Key Laboratory of Medical Genetics,Yongyi Zou论文数: 0 引用数: 0 h-index: 0机构: State Key Laboratory of Medical Genetics,Yue Zhang论文数: 0 引用数: 0 h-index: 0机构: State Key Laboratory of Medical Genetics,Rui Zhang论文数: 0 引用数: 0 h-index: 0机构: State Key Laboratory of Medical Genetics,Jianjun Ou论文数: 0 引用数: 0 h-index: 0机构: State Key Laboratory of Medical Genetics,Yidong Shen论文数: 0 引用数: 0 h-index: 0机构: State Key Laboratory of Medical Genetics,Jingping Zhao论文数: 0 引用数: 0 h-index: 0机构: State Key Laboratory of Medical Genetics,Xiaomei Luo论文数: 0 引用数: 0 h-index: 0机构: State Key Laboratory of Medical Genetics,Jing Guo论文数: 0 引用数: 0 h-index: 0机构: State Key Laboratory of Medical Genetics,Lanlan Zeng论文数: 0 引用数: 0 h-index: 0机构: State Key Laboratory of Medical Genetics,Yiqiao Hu论文数: 0 引用数: 0 h-index: 0机构: State Key Laboratory of Medical Genetics,Yu Zheng论文数: 0 引用数: 0 h-index: 0机构: State Key Laboratory of Medical Genetics,Qian Pan论文数: 0 引用数: 0 h-index: 0机构: State Key Laboratory of Medical Genetics,Desheng Liang论文数: 0 引用数: 0 h-index: 0机构: State Key Laboratory of Medical Genetics,Lingqian Wu论文数: 0 引用数: 0 h-index: 0机构: State Key Laboratory of Medical Genetics,
- [9] A novel de novo POGZ mutation in a patient with intellectual disabilityJOURNAL OF HUMAN GENETICS, 2016, 61 (04) : 357 - 359Tan, Bo论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, State Key Lab Med Genet, 110 Xiangya Rd, Changsha 410078, Hunan, Peoples R China Cent S Univ, State Key Lab Med Genet, 110 Xiangya Rd, Changsha 410078, Hunan, Peoples R ChinaZou, Yongyi论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, State Key Lab Med Genet, 110 Xiangya Rd, Changsha 410078, Hunan, Peoples R China Cent S Univ, State Key Lab Med Genet, 110 Xiangya Rd, Changsha 410078, Hunan, Peoples R ChinaZhang, Yue论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, State Key Lab Med Genet, 110 Xiangya Rd, Changsha 410078, Hunan, Peoples R China Cent S Univ, State Key Lab Med Genet, 110 Xiangya Rd, Changsha 410078, Hunan, Peoples R ChinaZhang, Rui论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, State Key Lab Med Genet, 110 Xiangya Rd, Changsha 410078, Hunan, Peoples R China Cent S Univ, State Key Lab Med Genet, 110 Xiangya Rd, Changsha 410078, Hunan, Peoples R ChinaOu, Jianjun论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, Xiangya Hosp 2, Inst Mental Hlth, Changsha, Hunan, Peoples R China Cent S Univ, State Key Lab Med Genet, 110 Xiangya Rd, Changsha 410078, Hunan, Peoples R ChinaShen, Yidong论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, Xiangya Hosp 2, Inst Mental Hlth, Changsha, Hunan, Peoples R China Cent S Univ, State Key Lab Med Genet, 110 Xiangya Rd, Changsha 410078, Hunan, Peoples R ChinaZhao, Jingping论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, Xiangya Hosp 2, Inst Mental Hlth, Changsha, Hunan, Peoples R China Cent S Univ, State Key Lab Med Genet, 110 Xiangya Rd, Changsha 410078, Hunan, Peoples R ChinaLuo, Xiaomei论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, State Key Lab Med Genet, 110 Xiangya Rd, Changsha 410078, Hunan, Peoples R China Cent S Univ, State Key Lab Med Genet, 110 Xiangya Rd, Changsha 410078, Hunan, Peoples R ChinaGuo, Jing论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, State Key Lab Med Genet, 110 Xiangya Rd, Changsha 410078, Hunan, Peoples R China Cent S Univ, State Key Lab Med Genet, 110 Xiangya Rd, Changsha 410078, Hunan, Peoples R ChinaZeng, Lanlan论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, State Key Lab Med Genet, 110 Xiangya Rd, Changsha 410078, Hunan, Peoples R China Cent S Univ, State Key Lab Med Genet, 110 Xiangya Rd, Changsha 410078, Hunan, Peoples R ChinaHu, Yiqiao论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, State Key Lab Med Genet, 110 Xiangya Rd, Changsha 410078, Hunan, Peoples R China Cent S Univ, State Key Lab Med Genet, 110 Xiangya Rd, Changsha 410078, Hunan, Peoples R ChinaZheng, Yu论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, State Key Lab Med Genet, 110 Xiangya Rd, Changsha 410078, Hunan, Peoples R China Cent S Univ, State Key Lab Med Genet, 110 Xiangya Rd, Changsha 410078, Hunan, Peoples R ChinaPan, Qian论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, State Key Lab Med Genet, 110 Xiangya Rd, Changsha 410078, Hunan, Peoples R China Cent S Univ, State Key Lab Med Genet, 110 Xiangya Rd, Changsha 410078, Hunan, Peoples R ChinaLiang, Desheng论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, State Key Lab Med Genet, 110 Xiangya Rd, Changsha 410078, Hunan, Peoples R China Hunan Jiahui Genet Hosp, Changsha, Hunan, Peoples R China Cent S Univ, State Key Lab Med Genet, 110 Xiangya Rd, Changsha 410078, Hunan, Peoples R ChinaWu, Lingqian论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, State Key Lab Med Genet, 110 Xiangya Rd, Changsha 410078, Hunan, Peoples R China Hunan Jiahui Genet Hosp, Changsha, Hunan, Peoples R China Cent S Univ, State Key Lab Med Genet, 110 Xiangya Rd, Changsha 410078, Hunan, Peoples R China
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