共 50 条
- [21] Enhancers Facilitate the Birth of De Novo Genes and Gene Integration into Regulatory NetworksMOLECULAR BIOLOGY AND EVOLUTION, 2020, 37 (04) : 1165 - 1178论文数: 引用数: h-index:机构:Payne, Joshua L.论文数: 0 引用数: 0 h-index: 0机构: Swiss Fed Inst Technol, Inst Integrat Biol, Zurich, Switzerland Swiss Inst Bioinformat, Lausanne, Switzerland Swiss Fed Inst Technol, Inst Integrat Biol, Zurich, Switzerland
- [22] Further evidence to link CHD family-chromatin remodeler genes and neurodevelopment: de novo variants in CHD5 are associated with intellectual disability, epilepsy and autismEUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 326 - 327Lehalle, D.论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, Serv Genet, Paris, France Hop La Pitie Salpetriere, Serv Genet, Paris, FranceMizuguchi, T.论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Dept Human Genet, Grad Sch Med, Kanazawa Ku, 3-9 Fukuura, Yokohama, Kanagawa, Japan Hop La Pitie Salpetriere, Serv Genet, Paris, FranceNava, C.论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, Serv Genet, Paris, France Hop La Pitie Salpetriere, Serv Genet, Paris, FranceMatsumoto, N.论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Dept Human Genet, Grad Sch Med, Kanazawa Ku, 3-9 Fukuura, Yokohama, Kanagawa, Japan Hop La Pitie Salpetriere, Serv Genet, Paris, FranceCope, H.论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Sch Med, Dept Pediat, Div Med Genet, Durham, NC USA Hop La Pitie Salpetriere, Serv Genet, Paris, Francede Man, S.论文数: 0 引用数: 0 h-index: 0机构: Amphia Hosp, Dept Pediat, Breda, Netherlands Hop La Pitie Salpetriere, Serv Genet, Paris, FranceFriedman, J.论文数: 0 引用数: 0 h-index: 0机构: Rady Childrens Inst Genom Med, San Diego, CA USA Hop La Pitie Salpetriere, Serv Genet, Paris, FranceJoset, P.论文数: 0 引用数: 0 h-index: 0机构: Univ Zurich, Inst Med Genet, Zurich, Switzerland Univ Zurich, Radiz Rare Dis Initiat Zurich, Clin Res Prior Program Rare Dis, Zurich, Switzerland Hop La Pitie Salpetriere, Serv Genet, Paris, FranceKato, M.论文数: 0 引用数: 0 h-index: 0机构: Showa Univ, Dept Pediat, Sch Med, Tokyo, Japan Hop La Pitie Salpetriere, Serv Genet, Paris, FranceMuffels, I.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Metab Dis, Utrecht, Netherlands Hop La Pitie Salpetriere, Serv Genet, Paris, France论文数: 引用数: h-index:机构:Person, R. E.论文数: 0 引用数: 0 h-index: 0机构: GeneDx Inc, Gaithersburg, MD USA Hop La Pitie Salpetriere, Serv Genet, Paris, FrancePetit, F.论文数: 0 引用数: 0 h-index: 0机构: CHU Lille, Clin Genet, Lille, France Hop La Pitie Salpetriere, Serv Genet, Paris, France论文数: 引用数: h-index:机构:Shashi, V.论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Sch Med, Program Genet & Genom, Durham, NC USA Hop La Pitie Salpetriere, Serv Genet, Paris, FranceSmol, T.论文数: 0 引用数: 0 h-index: 0机构: Univ Lille, EA7364, RADEME, Lille, France Hop La Pitie Salpetriere, Serv Genet, Paris, FranceSteindl, K.论文数: 0 引用数: 0 h-index: 0机构: Univ Zurich, Inst Med Genet, Zurich, Switzerland Hop La Pitie Salpetriere, Serv Genet, Paris, FranceTorti, E.论文数: 0 引用数: 0 h-index: 0机构: GeneDx Inc, Gaithersburg, MD USA Hop La Pitie Salpetriere, Serv Genet, Paris, FranceVan de Laar, I.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Rotterdam, Dept Clin Genet, Erasmus MC, Rotterdam, Netherlands Hop La Pitie Salpetriere, Serv Genet, Paris, FranceFuchs, S.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Metab Dis, Utrecht, Netherlands Hop La Pitie Salpetriere, Serv Genet, Paris, FranceDepienne, C.论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, Serv Genet, Paris, France Univ Duisburg Essen, Univ Hosp Essen, Inst Human Genet, Essen, Germany Hop La Pitie Salpetriere, Serv Genet, Paris, FranceMignot, C.论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, Serv Genet, Paris, France Hop La Pitie Salpetriere, Serv Genet, Paris, France
- [23] Severe mitochondrial encephalomyopathy caused by de novo variants in OPA1 geneFRONTIERS IN GENETICS, 2024, 15Di Nottia, Michela论文数: 0 引用数: 0 h-index: 0机构: IRCCS, Bambino Gesu Childrens Hosp, Unit Cell Biol & Diag Mitochondrial Disorders, Lab Med Genet, Rome, Italy IRCCS, Bambino Gesu Childrens Hosp, Neuromuscular Disorders Res Unit, Rome, Italy IRCCS, Bambino Gesu Childrens Hosp, Unit Cell Biol & Diag Mitochondrial Disorders, Lab Med Genet, Rome, ItalyRizza, Teresa论文数: 0 引用数: 0 h-index: 0机构: IRCCS, Bambino Gesu Childrens Hosp, Unit Cell Biol & Diag Mitochondrial Disorders, Lab Med Genet, Rome, Italy IRCCS, Bambino Gesu Childrens Hosp, Unit Cell Biol & Diag Mitochondrial Disorders, Lab Med Genet, Rome, ItalyBaruffini, Enrico论文数: 0 引用数: 0 h-index: 0机构: Univ Parma, Dept Chem Life Sci & Environm Sustainabil, Parma, Italy IRCCS, Bambino Gesu Childrens Hosp, Unit Cell Biol & Diag Mitochondrial Disorders, Lab Med Genet, Rome, ItalyNesti, Claudia论文数: 0 引用数: 0 h-index: 0机构: IRCCS Stella Maris Fdn, Mol Med, Pisa, Italy IRCCS, Bambino Gesu Childrens Hosp, Unit Cell Biol & Diag Mitochondrial Disorders, Lab Med Genet, Rome, ItalyTorraco, Alessandra论文数: 0 引用数: 0 h-index: 0机构: IRCCS, Bambino Gesu Childrens Hosp, Unit Cell Biol & Diag Mitochondrial Disorders, Lab Med Genet, Rome, Italy IRCCS, Bambino Gesu Childrens Hosp, Unit Cell Biol & Diag Mitochondrial Disorders, Lab Med Genet, Rome, ItalyDiodato, Daria论文数: 0 引用数: 0 h-index: 0机构: IRCCS, Bambino Gesu Childrens Hosp, Neuromuscular Disorders Res Unit, Rome, Italy IRCCS, Bambino Gesu Childrens Hosp, Unit Cell Biol & Diag Mitochondrial Disorders, Lab Med Genet, Rome, ItalyMartinelli, Diego论文数: 0 引用数: 0 h-index: 0机构: IRCCS, Div Metab Dis & Hepatol, Bambino Gesu Childrens Hosp, Rome, Italy IRCCS, Bambino Gesu Childrens Hosp, Unit Cell Biol & Diag Mitochondrial Disorders, Lab Med Genet, Rome, ItalyDal Canto, Flavio论文数: 0 引用数: 0 h-index: 0机构: IRCCS Stella Maris Fdn, Mol Med, Pisa, Italy IRCCS, Bambino Gesu Childrens Hosp, Unit Cell Biol & Diag Mitochondrial Disorders, Lab Med Genet, Rome, Italy论文数: 引用数: h-index:机构:Zoccola, Martina论文数: 0 引用数: 0 h-index: 0机构: IRCCS, Bambino Gesu Childrens Hosp, Unit Cell Biol & Diag Mitochondrial Disorders, Lab Med Genet, Rome, Italy IRCCS, Bambino Gesu Childrens Hosp, Neuromuscular Disorders Res Unit, Rome, Italy IRCCS, Bambino Gesu Childrens Hosp, Unit Cell Biol & Diag Mitochondrial Disorders, Lab Med Genet, Rome, ItalySiri, Barbara论文数: 0 引用数: 0 h-index: 0机构: IRCCS, Div Metab Dis & Hepatol, Bambino Gesu Childrens Hosp, Rome, Italy IRCCS, Bambino Gesu Childrens Hosp, Unit Cell Biol & Diag Mitochondrial Disorders, Lab Med Genet, Rome, ItalyDionisi-Vici, Carlo论文数: 0 引用数: 0 h-index: 0机构: IRCCS, Div Metab Dis & Hepatol, Bambino Gesu Childrens Hosp, Rome, Italy IRCCS, Bambino Gesu Childrens Hosp, Unit Cell Biol & Diag Mitochondrial Disorders, Lab Med Genet, Rome, ItalyBertini, Enrico论文数: 0 引用数: 0 h-index: 0机构: IRCCS, Bambino Gesu Childrens Hosp, Neuromuscular Disorders Res Unit, Rome, Italy IRCCS, Bambino Gesu Childrens Hosp, Unit Cell Biol & Diag Mitochondrial Disorders, Lab Med Genet, Rome, ItalySantorelli, Filippo Maria论文数: 0 引用数: 0 h-index: 0机构: IRCCS Stella Maris Fdn, Mol Med, Pisa, Italy IRCCS, Bambino Gesu Childrens Hosp, Unit Cell Biol & Diag Mitochondrial Disorders, Lab Med Genet, Rome, Italy论文数: 引用数: h-index:机构:Carrozzo, Rosalba论文数: 0 引用数: 0 h-index: 0机构: IRCCS, Bambino Gesu Childrens Hosp, Unit Cell Biol & Diag Mitochondrial Disorders, Lab Med Genet, Rome, Italy IRCCS, Bambino Gesu Childrens Hosp, Unit Cell Biol & Diag Mitochondrial Disorders, Lab Med Genet, Rome, Italy
- [24] Natural regulatory T cells and de novo-induced regulatory T cells contribute independently to tumor-specific toleranceJOURNAL OF IMMUNOLOGY, 2007, 178 (04): : 2155 - 2162Zhou, Gang论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ Hosp, Dept Oncol, Sidney Kimmel Comprehens Canc Ctr, Baltimore, MD 21231 USA Johns Hopkins Univ Hosp, Dept Oncol, Sidney Kimmel Comprehens Canc Ctr, Baltimore, MD 21231 USALevitsky, Hyam I.论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ Hosp, Dept Oncol, Sidney Kimmel Comprehens Canc Ctr, Baltimore, MD 21231 USA Johns Hopkins Univ Hosp, Dept Oncol, Sidney Kimmel Comprehens Canc Ctr, Baltimore, MD 21231 USA
- [25] Familial recurrence of incontinentia pigmenti due to de novo pathogenic variants in the IKBKG geneAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2024, 194 (08)Steffann, Julie论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Cite, Inst Imagine Unite, UMR1163, Paris, France Hop Necker Enfants Malad, AP HP, Serv Med Genom Malad Rares, Paris, France Univ Paris Cite, Inst Imagine Unite, UMR1163, Paris, FranceSantos, Judite De Oliveira论文数: 0 引用数: 0 h-index: 0机构: Hop Necker Enfants Malad, AP HP, Serv Med Genom Malad Rares, Paris, France Univ Paris Cite, Inst Imagine Unite, UMR1163, Paris, FranceZelbin, Anne-Laure论文数: 0 引用数: 0 h-index: 0机构: Hop Necker Enfants Malad, AP HP, Serv Med Genom Malad Rares, Paris, France Univ Paris Cite, Inst Imagine Unite, UMR1163, Paris, France论文数: 引用数: h-index:机构:Charbit-Henrion, Fabienne论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Cite, Inst Imagine Unite, UMR1163, Paris, France Hop Necker Enfants Malad, AP HP, Serv Med Genom Malad Rares, Paris, France Univ Paris Cite, Inst Imagine Unite, UMR1163, Paris, FrancePetit, Florence论文数: 0 引用数: 0 h-index: 0机构: CHU Lille, Clin Genet Guy Fontaine, Lille, France Univ Paris Cite, Inst Imagine Unite, UMR1163, Paris, France
- [26] Progressive Ataxia due to de novo Missense Variants in the CACNA1A GeneCEREBELLUM, 2024, 23 (05): : 2197 - 2204Zhu, Chen-Hao论文数: 0 引用数: 0 h-index: 0机构: Zhejiang Univ, Affiliated Hosp 2, Dept Med Genet, Sch Med, 88 Jiefang Rd, Hangzhou 310009, Peoples R China Zhejiang Univ, Affiliated Hosp 2, Ctr Rare Dis, Sch Med, 88 Jiefang Rd, Hangzhou 310009, Peoples R China Zhejiang Univ, Affiliated Hosp 2, Dept Neurol, Sch Med, 88 Jiefang Rd, Hangzhou 310009, Peoples R China Zhejiang Univ, Affiliated Hosp 2, Dept Med Genet, Sch Med, 88 Jiefang Rd, Hangzhou 310009, Peoples R ChinaYu, Jin-Yang论文数: 0 引用数: 0 h-index: 0机构: Zhejiang Univ, Affiliated Hosp 2, Dept Med Genet, Sch Med, 88 Jiefang Rd, Hangzhou 310009, Peoples R China Zhejiang Univ, Affiliated Hosp 2, Ctr Rare Dis, Sch Med, 88 Jiefang Rd, Hangzhou 310009, Peoples R China Zhejiang Univ, Affiliated Hosp 2, Dept Neurol, Sch Med, 88 Jiefang Rd, Hangzhou 310009, Peoples R China Zhejiang Univ, Affiliated Hosp 2, Dept Med Genet, Sch Med, 88 Jiefang Rd, Hangzhou 310009, Peoples R ChinaMa, Yin论文数: 0 引用数: 0 h-index: 0机构: Zhejiang Univ, Affiliated Hosp 2, Dept Med Genet, Sch Med, 88 Jiefang Rd, Hangzhou 310009, Peoples R China Zhejiang Univ, Affiliated Hosp 2, Ctr Rare Dis, Sch Med, 88 Jiefang Rd, Hangzhou 310009, Peoples R China Zhejiang Univ, Affiliated Hosp 2, Dept Neurol, Sch Med, 88 Jiefang Rd, Hangzhou 310009, Peoples R China Zhejiang Univ, Affiliated Hosp 2, Dept Med Genet, Sch Med, 88 Jiefang Rd, Hangzhou 310009, Peoples R ChinaDong, Yi论文数: 0 引用数: 0 h-index: 0机构: Zhejiang Univ, Affiliated Hosp 2, Dept Med Genet, Sch Med, 88 Jiefang Rd, Hangzhou 310009, Peoples R China Zhejiang Univ, Affiliated Hosp 2, Ctr Rare Dis, Sch Med, 88 Jiefang Rd, Hangzhou 310009, Peoples R China Zhejiang Univ, Affiliated Hosp 2, Dept Neurol, Sch Med, 88 Jiefang Rd, Hangzhou 310009, Peoples R China Zhejiang Univ, Affiliated Hosp 2, Dept Med Genet, Sch Med, 88 Jiefang Rd, Hangzhou 310009, Peoples R ChinaWu, Zhi-Ying论文数: 0 引用数: 0 h-index: 0机构: Zhejiang Univ, Affiliated Hosp 2, Dept Med Genet, Sch Med, 88 Jiefang Rd, Hangzhou 310009, Peoples R China Zhejiang Univ, Affiliated Hosp 2, Ctr Rare Dis, Sch Med, 88 Jiefang Rd, Hangzhou 310009, Peoples R China Zhejiang Univ, Affiliated Hosp 2, Dept Neurol, Sch Med, 88 Jiefang Rd, Hangzhou 310009, Peoples R China Nanhu Brain Comp Interface Inst, Hangzhou, Peoples R China Zhejiang Univ, MOE Frontier Sci Ctr Brain Sci & Brain Machine Int, Sch Brain Sci & Brain Med, Hangzhou, Peoples R China Zhejiang Univ, Affiliated Hosp 2, Dept Med Genet, Sch Med, 88 Jiefang Rd, Hangzhou 310009, Peoples R China
- [27] De novo Splice Site Mutation of the CHD7 Gene in a Chinese Patient with Typical CHARGE SyndromeORL-JOURNAL FOR OTO-RHINO-LARYNGOLOGY HEAD AND NECK SURGERY, 2022, 84 (05): : 417 - 424Wang, Shujuan论文数: 0 引用数: 0 h-index: 0机构: Air Force Mil Med Univ, Xijing Hosp, Dept Otolaryngol & Head & Neck Surg, Xian, Peoples R China Air Force Mil Med Univ, Xijing Hosp, Dept Otolaryngol & Head & Neck Surg, Xian, Peoples R ChinaLin, Ying论文数: 0 引用数: 0 h-index: 0机构: Air Force Mil Med Univ, Xijing Hosp, Dept Otolaryngol & Head & Neck Surg, Xian, Peoples R China Air Force Mil Med Univ, Xijing Hosp, Dept Otolaryngol & Head & Neck Surg, Xian, Peoples R ChinaLiang, Pengfei论文数: 0 引用数: 0 h-index: 0机构: Air Force Mil Med Univ, Xijing Hosp, Dept Otolaryngol & Head & Neck Surg, Xian, Peoples R China Air Force Mil Med Univ, Xijing Hosp, Dept Otolaryngol & Head & Neck Surg, Xian, Peoples R ChinaLi, Qiong论文数: 0 引用数: 0 h-index: 0机构: Air Force Mil Med Univ, Xijing Hosp, Dept Otolaryngol & Head & Neck Surg, Xian, Peoples R China Air Force Mil Med Univ, Xijing Hosp, Dept Otolaryngol & Head & Neck Surg, Xian, Peoples R ChinaLi, Wei论文数: 0 引用数: 0 h-index: 0机构: Air Force Mil Med Univ, Xijing Hosp, Dept Otolaryngol & Head & Neck Surg, Xian, Peoples R China Air Force Mil Med Univ, Xijing Hosp, Dept Otolaryngol & Head & Neck Surg, Xian, Peoples R ChinaWang, Zhaoxia论文数: 0 引用数: 0 h-index: 0机构: Air Force Mil Med Univ, Xijing Hosp, Dept Otolaryngol & Head & Neck Surg, Xian, Peoples R China Air Force Mil Med Univ, Xijing Hosp, Dept Otolaryngol & Head & Neck Surg, Xian, Peoples R ChinaWang, Jian论文数: 0 引用数: 0 h-index: 0机构: Air Force Mil Med Univ, Xijing Hosp, Dept Otolaryngol & Head & Neck Surg, Xian, Peoples R China Air Force Mil Med Univ, Xijing Hosp, Dept Otolaryngol & Head & Neck Surg, Xian, Peoples R ChinaChen, Jun论文数: 0 引用数: 0 h-index: 0机构: Air Force Mil Med Univ, Xijing Hosp, Dept Otolaryngol & Head & Neck Surg, Xian, Peoples R China Air Force Mil Med Univ, Xijing Hosp, Dept Otolaryngol & Head & Neck Surg, Xian, Peoples R ChinaZha, Dingjun论文数: 0 引用数: 0 h-index: 0机构: Air Force Mil Med Univ, Xijing Hosp, Dept Otolaryngol & Head & Neck Surg, Xian, Peoples R China Air Force Mil Med Univ, Xijing Hosp, Dept Otolaryngol & Head & Neck Surg, Xian, Peoples R China
- [28] NOVEL SUSCEPTABILITY LOCI FOR OSTEOARTHRITIS OF THE HAND: VARIANTS IN CODING EN GENE REGULATORY REGIONSOSTEOARTHRITIS AND CARTILAGE, 2015, 23 : A196 - A196Boer, C. G.论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC, Rotterdam, Netherlands Erasmus MC, Rotterdam, Netherlandsde Kruijf, M.论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC, Rotterdam, Netherlands Erasmus MC, Rotterdam, NetherlandsBroer, L.论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC, Rotterdam, Netherlands Erasmus MC, Rotterdam, NetherlandsHofman, A.论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC, Rotterdam, Netherlands Erasmus MC, Rotterdam, NetherlandsUitterlinden, A. G.论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC, Rotterdam, Netherlands Erasmus MC, Rotterdam, Netherlandsvan Meurs, J. J.论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC, Rotterdam, Netherlands Erasmus MC, Rotterdam, Netherlands
- [29] De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomaliesAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2018, 176 (04) : 969 - 972Pinz, Hailey论文数: 0 引用数: 0 h-index: 0机构: St Louis Univ, Sch Med, Dept Pediat, Div Med Genet, St Louis, MO 63104 USA St Louis Univ, Sch Med, Dept Pediat, Div Med Genet, St Louis, MO 63104 USAPyle, Louise C.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USA St Louis Univ, Sch Med, Dept Pediat, Div Med Genet, St Louis, MO 63104 USALi, Dong论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USA St Louis Univ, Sch Med, Dept Pediat, Div Med Genet, St Louis, MO 63104 USAIzumi, Kosuke论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USA St Louis Univ, Sch Med, Dept Pediat, Div Med Genet, St Louis, MO 63104 USASkraban, Cara论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USA St Louis Univ, Sch Med, Dept Pediat, Div Med Genet, St Louis, MO 63104 USATarpinian, Jennifer论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USA St Louis Univ, Sch Med, Dept Pediat, Div Med Genet, St Louis, MO 63104 USABraddock, Stephen R.论文数: 0 引用数: 0 h-index: 0机构: St Louis Univ, Sch Med, Dept Pediat, Div Med Genet, St Louis, MO 63104 USA St Louis Univ, Sch Med, Dept Pediat, Div Med Genet, St Louis, MO 63104 USATelegrafi, Aida论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD USA St Louis Univ, Sch Med, Dept Pediat, Div Med Genet, St Louis, MO 63104 USAMonaghan, Kristin G.论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD USA St Louis Univ, Sch Med, Dept Pediat, Div Med Genet, St Louis, MO 63104 USAZackai, Elaine论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USA St Louis Univ, Sch Med, Dept Pediat, Div Med Genet, St Louis, MO 63104 USABhoj, Elizabeth J.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USA St Louis Univ, Sch Med, Dept Pediat, Div Med Genet, St Louis, MO 63104 USA
- [30] De novo variants in neurodevelopmental disorders with epilepsyEUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 276 - 276Heyne, H. O.论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Boston, MA 02114 USA Massachusetts Gen Hosp, Boston, MA 02114 USASingh, T.论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Boston, MA 02114 USA Massachusetts Gen Hosp, Boston, MA 02114 USA论文数: 引用数: h-index:机构:Poduri, A.论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Boston, MA USA Massachusetts Gen Hosp, Boston, MA 02114 USAWeber, Y.论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Tubingen, Germany Massachusetts Gen Hosp, Boston, MA 02114 USA论文数: 引用数: h-index:机构:Sisodiya, S. M.论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Neurol, London, England Massachusetts Gen Hosp, Boston, MA 02114 USADaly, M. J.论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Boston, MA 02114 USA Massachusetts Gen Hosp, Boston, MA 02114 USAHelbig, I.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Philadelphia, PA 19104 USA Massachusetts Gen Hosp, Boston, MA 02114 USALal, D.论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Boston, MA 02114 USA Massachusetts Gen Hosp, Boston, MA 02114 USALemke, J. R.论文数: 0 引用数: 0 h-index: 0机构: Univ Leipzig, Leipzig, Germany Massachusetts Gen Hosp, Boston, MA 02114 USA