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- [41] RBL2/Rbf loss-of-function disrupts neurodevelopment in humans and flies and reveals a key role for an Rb proteins in post-mitotic neuronsEUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 1509 - 1510Aughey, Gabriel论文数: 0 引用数: 0 h-index: 0机构: UCL, London, England UCL, London, EnglandCali, Elisa论文数: 0 引用数: 0 h-index: 0机构: UCL, London, England UCL, London, EnglandHoulden, Henry论文数: 0 引用数: 0 h-index: 0机构: UCL, London, England UCL, London, EnglandMaroofian, Reza论文数: 0 引用数: 0 h-index: 0机构: UCL, London, England UCL, London, EnglandJepson, James论文数: 0 引用数: 0 h-index: 0机构: UCL, London, England UCL, London, England
- [42] De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental DisorderAMERICAN JOURNAL OF HUMAN GENETICS, 2018, 102 (06) : 1195 - 1203Reijnders, Margot R. F.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Dept Human Genet, Med Ctr, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Dept Human Genet, Med Ctr, NL-6500 HB Nijmegen, NetherlandsMiller, Kerry A.论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, John Radcliffe Hosp, MRC Weatherall Inst Mol Med, Clin Genet Grp, Oxford OX3 9DS, England Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Dept Human Genet, Med Ctr, NL-6500 HB Nijmegen, NetherlandsAlvi, Mohsan论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Dept Engn Sci, Visual Geometry Grp, Oxford OX1 2JD, England Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Dept Human Genet, Med Ctr, NL-6500 HB Nijmegen, NetherlandsGoos, Jacqueline A. C.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Rotterdam, Dept Plast & Reconstruct Surg, Erasmus MC, POB 2040, NL-3000 CA Rotterdam, Netherlands Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Dept Human Genet, Med Ctr, NL-6500 HB Nijmegen, NetherlandsLees, Melissa M.论文数: 0 引用数: 0 h-index: 0机构: Great Ormond St Hosp Sick Children, Dept Clin Genet, London WC1N 3JH, England Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Dept Human Genet, Med Ctr, NL-6500 HB Nijmegen, Netherlandsde Burca, Anna论文数: 0 引用数: 0 h-index: 0机构: Oxford Univ Hosp NHS Fdn Trust, Oxford Ctr Genom Med, Oxford OX3 7HE, England Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Dept Human Genet, Med Ctr, NL-6500 HB Nijmegen, NetherlandsHenderson, Alex论文数: 0 引用数: 0 h-index: 0机构: Newcastle Upon Tyne Hosp NHS Fdn Trust, Northern Genet Serv, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Dept Human Genet, Med Ctr, NL-6500 HB Nijmegen, NetherlandsKraus, Alison论文数: 0 引用数: 0 h-index: 0机构: Chapel Allerton Hosp, Yorkshire Reg Genet Serv, Leeds LS7 4SA, W Yorkshire, England Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Dept Human Genet, Med Ctr, NL-6500 HB Nijmegen, NetherlandsMikat, Barbara论文数: 0 引用数: 0 h-index: 0机构: Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, D-45147 Essen, Germany Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Dept Human Genet, Med Ctr, NL-6500 HB Nijmegen, Netherlandsde Vries, Bert B. A.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Dept Human Genet, Med Ctr, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Dept Human Genet, Med Ctr, NL-6500 HB Nijmegen, NetherlandsIsidor, Bertrand论文数: 0 引用数: 0 h-index: 0机构: CHU Nantes, Serv Genet Med, F-44093 Nantes 1, France INSERM, UMR S 957, 1 Rue Gaston Veil, F-44035 Nantes, France Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Dept Human Genet, Med Ctr, NL-6500 HB Nijmegen, NetherlandsKerr, Bronwyn论文数: 0 引用数: 0 h-index: 0机构: Univ Manchester, Sch Biol Sci, Div Evolut & Genom Sci, Manchester M13 9PL, Lancs, England Manchester Univ Hosp NHS Fdn Trust, Manchester Acad Hlth Sci Ctr, Manchester Ctr Genom Med, Manchester M13 9WL, Lancs, England Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Dept Human Genet, Med Ctr, NL-6500 HB Nijmegen, NetherlandsMarcelis, Carlo论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Dept Human Genet, Med Ctr, NL-6500 HB Nijmegen, NetherlandsSchluth-Bolard, Caroline论文数: 0 引用数: 0 h-index: 0机构: Hosp Civils Lyon, Serv Genet, Ctr Reference Anomalies Dev, F-69500 Bron, France UCB Lyon 1, GENDEV Team, CNRS, INSERM,U1028,UMR5292,Ctr Rech Neurosci Lyon, F-69500 Bron, France Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Dept Human Genet, Med Ctr, NL-6500 HB Nijmegen, NetherlandsDeshpande, Charu论文数: 0 引用数: 0 h-index: 0机构: Guys Hosp, South East Thames Reg Genet Serv, London SE1 9RT, England Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Dept Human Genet, Med Ctr, NL-6500 HB Nijmegen, NetherlandsRuivenkamp, Claudia A. L.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Clin Genet, NL-2300 RC Leiden, Netherlands Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Dept Human Genet, Med Ctr, NL-6500 HB Nijmegen, NetherlandsWieczorek, Dagmar论文数: 0 引用数: 0 h-index: 0机构: Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, D-45147 Essen, Germany Heinrich Heine Univ, Med Fac, Inst Human Genet, D-40225 Dusseldorf, Germany Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Dept Human Genet, Med Ctr, NL-6500 HB Nijmegen, Netherlands论文数: 引用数: h-index:机构:Blair, Edward M.论文数: 0 引用数: 0 h-index: 0机构: Oxford Univ Hosp NHS Fdn Trust, Oxford Ctr Genom Med, Oxford OX3 7HE, England Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Dept Human Genet, Med Ctr, NL-6500 HB Nijmegen, NetherlandsEngels, Hartmut论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Sch Med, Inst Human Genet, D-53127 Bonn, Germany Univ Bonn, D-53127 Bonn, Germany Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Dept Human Genet, Med Ctr, NL-6500 HB Nijmegen, NetherlandsLuedecke, Hermann-Josef论文数: 0 引用数: 0 h-index: 0机构: Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, D-45147 Essen, Germany Heinrich Heine Univ, Med Fac, Inst Human Genet, D-40225 Dusseldorf, Germany Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Dept Human Genet, Med Ctr, NL-6500 HB Nijmegen, NetherlandsEason, Jacqueline论文数: 0 引用数: 0 h-index: 0机构: Nottingham Univ Hosp NHS Trust, Nottingham Reg Genet Serv, City Hosp Campus,Hucknall Rd, Nottingham NG5 1PB, England Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Dept Human Genet, Med Ctr, NL-6500 HB Nijmegen, NetherlandsSanten, Gijs W. E.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Clin Genet, NL-2300 RC Leiden, Netherlands Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Dept Human Genet, Med Ctr, NL-6500 HB Nijmegen, Netherlands论文数: 引用数: h-index:机构:Chandler, Kate论文数: 0 引用数: 0 h-index: 0机构: Univ Manchester, Sch Biol Sci, Div Evolut & Genom Sci, Manchester M13 9PL, Lancs, England Manchester Univ Hosp NHS Fdn Trust, Manchester Acad Hlth Sci Ctr, Manchester Ctr Genom Med, Manchester M13 9WL, Lancs, England Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Dept Human Genet, Med Ctr, NL-6500 HB Nijmegen, NetherlandsTatton-Brown, Katrina论文数: 0 引用数: 0 h-index: 0机构: St Georges Univ London, St Georges Univ Hosp NHS Fdn Trust, Southwest Thames Reg Genet Ctr, London SW17 0RE, England Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Dept Human Genet, Med Ctr, NL-6500 HB Nijmegen, NetherlandsPayne, Katelyn论文数: 0 引用数: 0 h-index: 0机构: Riley Hosp Children, Indianapolis, IN 46202 USA Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Dept Human Genet, Med Ctr, NL-6500 HB Nijmegen, NetherlandsHelbig, Katherine论文数: 0 引用数: 0 h-index: 0机构: Ambry Genet, Div Clin Genom, Aliso Viejo, CA 92656 USA Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Dept Human Genet, Med Ctr, NL-6500 HB Nijmegen, NetherlandsRadtke, Kelly论文数: 0 引用数: 0 h-index: 0机构: Ambry Genet, Div Clin Genom, Aliso Viejo, CA 92656 USA Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Dept Human Genet, Med Ctr, NL-6500 HB Nijmegen, NetherlandsNugent, Kimberly M.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp San Antonio, Baylor Coll Med, Dept Pediat, San Antonio, TX 78207 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Dept Human Genet, Med Ctr, NL-6500 HB Nijmegen, NetherlandsCremer, Kirsten论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Sch Med, Inst Human Genet, D-53127 Bonn, Germany Univ Bonn, D-53127 Bonn, Germany Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Dept Human Genet, Med Ctr, NL-6500 HB Nijmegen, NetherlandsStrom, Tim M.论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, Germany Tech Univ Munich, Inst Human Genet, D-81675 Munich, Germany Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Dept Human Genet, Med Ctr, NL-6500 HB Nijmegen, NetherlandsBird, Lynne M.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Diego, Dept Pediat, San Diego, CA 92123 USA Rady Childrens Hosp San Diego, Genet & Dysmorphol, San Diego, CA 92123 USA Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Dept Human Genet, Med Ctr, NL-6500 HB Nijmegen, NetherlandsSinnema, Margje论文数: 0 引用数: 0 h-index: 0机构: Maastricht Univ, Med Ctr, Dept Clin Genet, NL-6229 ER Maastricht, Netherlands Maastricht Univ, Med Ctr, Sch Oncol & Dev Biol GROW, NL-6229 ER Maastricht, Netherlands Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Dept Human Genet, Med Ctr, NL-6500 HB Nijmegen, NetherlandsBitner-Glindzicz, Maria论文数: 0 引用数: 0 h-index: 0机构: UCL Great Ormond St Inst Child Hlth, Genet & Genom Med, 30 Guilford St, London WC1N 1EH, England Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Dept Human Genet, Med Ctr, NL-6500 HB Nijmegen, Netherlandsvan Dooren, Marieke F.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Rotterdam, Erasmus MC, Dept Clin Genet, POB 21455, NL-3001 AL Rotterdam, Netherlands Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Dept Human Genet, Med Ctr, NL-6500 HB Nijmegen, NetherlandsAlders, Marielle论文数: 0 引用数: 0 h-index: 0机构: Acad Med Ctr, Dept Clin Genet, POB 22660, NL-1100 DD Amsterdam, Netherlands Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Dept Human Genet, Med Ctr, NL-6500 HB Nijmegen, NetherlandsKoopmans, Marije论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Clin Genet, NL-2300 RC Leiden, Netherlands Univ Med Ctr Utrecht, Dept Genet, NL-3508 AB Utrecht, Netherlands Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Dept Human Genet, Med Ctr, NL-6500 HB Nijmegen, NetherlandsBrick, Lauren论文数: 0 引用数: 0 h-index: 0机构: McMaster Univ, McMaster Childrens Hosp, Dept Pediat, Div Genet, Hamilton, ON L8N 3Z5, Canada Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Dept Human Genet, Med Ctr, NL-6500 HB Nijmegen, NetherlandsKozenko, Mariya论文数: 0 引用数: 0 h-index: 0机构: McMaster Univ, McMaster Childrens Hosp, Dept Pediat, Div Genet, Hamilton, ON L8N 3Z5, Canada Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Dept Human Genet, Med Ctr, NL-6500 HB Nijmegen, NetherlandsHarline, Megan L.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp San Antonio, Baylor Coll Med, Dept Pediat, San Antonio, TX 78207 USA Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Dept Human Genet, Med Ctr, NL-6500 HB Nijmegen, NetherlandsKlaassens, Merel论文数: 0 引用数: 0 h-index: 0机构: Maastricht Univ, Dept Paediat, Med Ctr, NL-6229 ER Maastricht, Netherlands Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Dept Human Genet, Med Ctr, NL-6500 HB Nijmegen, NetherlandsSteinraths, Michelle论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Dept Med Genet, Vancouver, BC V8Z 6R5, Canada Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Dept Human Genet, Med Ctr, NL-6500 HB Nijmegen, NetherlandsCooper, Nicola S.论文数: 0 引用数: 0 h-index: 0机构: Birmingham Womens & Childrens NHS Fdn Trust, West Midlands Reg Clin Genet Unit, Mindelsohn Way, Birmingham B15 2TG, W Midlands, England Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Dept Human Genet, Med Ctr, NL-6500 HB Nijmegen, NetherlandsEdery, Patrick论文数: 0 引用数: 0 h-index: 0机构: Hosp Civils Lyon, Serv Genet, Ctr Reference Anomalies Dev, F-69500 Bron, France UCB Lyon 1, GENDEV Team, CNRS, INSERM,U1028,UMR5292,Ctr Rech Neurosci Lyon, F-69500 Bron, France Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Dept Human Genet, Med Ctr, NL-6500 HB Nijmegen, NetherlandsYap, Patrick论文数: 0 引用数: 0 h-index: 0机构: Genet Hlth Serv New Zealand, Auckland 1142, New Zealand Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Melbourne, Vic 3052, Australia Univ Auckland, Auckland 1142, New Zealand Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Dept Human Genet, Med Ctr, NL-6500 HB Nijmegen, NetherlandsTerhal, Paulien A.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Genet, NL-3508 AB Utrecht, Netherlands Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Dept Human Genet, Med Ctr, NL-6500 HB Nijmegen, Netherlandsvan der Spek, Peter J.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Rotterdam, Dept Pathol, Erasmus MC, POB 2040, NL-3000 CA Rotterdam, Netherlands Univ Med Ctr Rotterdam, Dept Bioinformat, Erasmus MC, POB 2040, NL-3000 CA Rotterdam, Netherlands Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Dept Human Genet, Med Ctr, NL-6500 HB Nijmegen, NetherlandsLakeman, Phillis论文数: 0 引用数: 0 h-index: 0机构: Acad Med Ctr, Dept Clin Genet, POB 22660, NL-1100 DD Amsterdam, Netherlands Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Dept Human Genet, Med Ctr, NL-6500 HB Nijmegen, NetherlandsTaylor, Rachel L.论文数: 0 引用数: 0 h-index: 0机构: Univ Manchester, Sch Biol Sci, Div Evolut & Genom Sci, Manchester M13 9PL, Lancs, England Manchester Univ Hosp NHS Fdn Trust, Manchester Acad Hlth Sci Ctr, Manchester Ctr Genom Med, Manchester M13 9WL, Lancs, England Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Dept Human Genet, Med Ctr, NL-6500 HB Nijmegen, Netherlands
- [43] Progressive brain atrophy and severe neurodevelopmental phenotype in siblings with biallelic COASY variantsAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2023, 191 (03) : 842 - 845论文数: 引用数: h-index:机构:Johnson, Jessica论文数: 0 引用数: 0 h-index: 0机构: Univ Rochester, Dept Neurol, Rochester, NY USA Univ Rochester, Dept Neurol, Rochester, NY USAStander, Zinandre论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Lab Med & Pathol, Rochester, MN USA Univ Rochester, Dept Neurol, Rochester, NY USAWhite, Amy论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Lab Med & Pathol, Rochester, MN USA Univ Rochester, Dept Neurol, Rochester, NY USATortorelli, Silvia论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Lab Med & Pathol, Rochester, MN USA Univ Rochester, Dept Neurol, Rochester, NY USABailey, Diana论文数: 0 引用数: 0 h-index: 0机构: Univ Rochester, Dept Pediat, Rochester, NY USA Univ Rochester, Dept Neurol, Rochester, NY USAFong, Chin-To论文数: 0 引用数: 0 h-index: 0机构: Univ Rochester, Dept Pediat, Rochester, NY USA Univ Rochester, Dept Neurol, Rochester, NY USALee, Bo Hoon论文数: 0 引用数: 0 h-index: 0机构: Univ Rochester, Dept Neurol, Rochester, NY USA Univ Rochester, Dept Pediat, Rochester, NY USA Univ Rochester, Med Ctr, Dept Neurol, 601 Elmwood Ave,Box 631, Rochester, NY 14642 USA Univ Rochester, Dept Neurol, Rochester, NY USA
- [44] Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss-of-function variantsAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2024, 194 (03)Sewani, Soha论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX USAAzamian, Mahshid S.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX USA Texas Childrens Hosp, Houston, TX USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX USAMendelsohn, Bryce A.论文数: 0 引用数: 0 h-index: 0机构: Kaiser Permanente Oakland Med Ctr, Dept Med Genet, Oakland, CA USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX USAMau-Them, Frederic Tran论文数: 0 引用数: 0 h-index: 0机构: UF6254 Innovat Diagnost Genom Malad Rares, Dijon, France Equipe Genet Anomalies Dev GAD, Dijon, France Baylor Coll Med, Dept Mol & Human Genet, Houston, TX USAReda, Manon论文数: 0 引用数: 0 h-index: 0机构: Georges Francois Leclerc Canc Ctr UNICANC, Dept Med Oncol, Dijon, France Georges Francois Leclerc Canc Ctr UNICANC, Platform Transfer Canc Biol, Dijon, France Univ Bourgogne Franche Comte, Dijon, France Genom & Immunotherapy Med Inst, Dijon, France Baylor Coll Med, Dept Mol & Human Genet, Houston, TX USANambot, Sophie论文数: 0 引用数: 0 h-index: 0机构: FHU TRANSLAD, Unite Fonct Innovat Diagnost Genom Malad Rares, Dijon, France FHU TRANSLAD, Ctr Reference Malad Rares Anomalies Dev & Syndrome, Ctr Genet, Dijon, France Baylor Coll Med, Dept Mol & Human Genet, Houston, TX USAIsidor, Bertrand论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Nantes, Serv Genet Med, Nantes, France UNIV Nantes, Inst Thorax, INSERM, CNRS, Nantes, France Baylor Coll Med, Dept Mol & Human Genet, Houston, TX USAvan der Smagt, Jasper J.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Genet, Utrecht, Netherlands Baylor Coll Med, Dept Mol & Human Genet, Houston, TX USAShen, Joseph J.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Davis, MIND Inst, Dept Pediat, Div Genom Med, Sacramento, CA USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX USA论文数: 引用数: h-index:机构:White, Lori论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp Med Ctr, Dept Human Genet, Cincinnati, OH USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX USAElloumi, Houda Zghal论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Clin Genom Program, Gaithersburg, MD USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX USABaker II, Peter R.论文数: 0 引用数: 0 h-index: 0机构: Univ Colorado, Dept Pediat, Aurora, CO USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX USASvihovec, Shayna论文数: 0 引用数: 0 h-index: 0机构: Univ Colorado, Dept Pediat, Aurora, CO USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX USABrown, Kathleen论文数: 0 引用数: 0 h-index: 0机构: Univ Colorado, Dept Pediat, Aurora, CO USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX USAKoopman-Keemink, Yvonne论文数: 0 引用数: 0 h-index: 0机构: Juliana Childrens Hosp, HAGA Med Ctr, Dept Paediat, The Hague, Netherlands Baylor Coll Med, Dept Mol & Human Genet, Houston, TX USAHoffer, Mariette J. V.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Clin Genet, Leiden, Netherlands Baylor Coll Med, Dept Mol & Human Genet, Houston, TX USALakeman, Inge M. M.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Clin Genet, Leiden, Netherlands Baylor Coll Med, Dept Mol & Human Genet, Houston, TX USABrischoux-Boucher, Elise论文数: 0 引用数: 0 h-index: 0机构: Univ Bourgogne Franche Comte, Ctr Genet Humaine, Besancon, France Baylor Coll Med, Dept Mol & Human Genet, Houston, TX USAKinali, Maria论文数: 0 引用数: 0 h-index: 0机构: Imperial Coll London, Dept Brain Sci, London, England Portland Hosp HCA Int, London, England Baylor Coll Med, Dept Mol & Human Genet, Houston, TX USAZhao, Xiaonan论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX USA Baylor Genet, Houston, TX USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX USALalani, Seema R.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX USA Texas Childrens Hosp, Houston, TX USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX USAScott, Daryl A.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX USA Texas Childrens Hosp, Houston, TX USA Baylor Coll Med, Dept Mol Physiol & Biophys, R813,One Baylor Plaza,BCM225, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX USA
- [45] Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variantsEBIOMEDICINE, 2024, 106Mohammadi, Nazanin Azarinejad论文数: 0 引用数: 0 h-index: 0机构: Filadelfia ERN EpiCARE, Danish Epilepsy Ctr, Dept Epilepsy Genet & Personalized Treatment, Dianalund, Denmark Univ Southern Denmark, Dept Reg Hlth Res, Odense, Denmark Filadelfia ERN EpiCARE, Danish Epilepsy Ctr, Dept Epilepsy Genet & Personalized Treatment, Dianalund, DenmarkAhring, Philip Kiaer论文数: 0 引用数: 0 h-index: 0机构: Univ Sydney, Fac Med & Hlth, Brain & Mind Ctr, Sch Med Sci, Sydney, NSW 2006, Australia Filadelfia ERN EpiCARE, Danish Epilepsy Ctr, Dept Epilepsy Genet & Personalized Treatment, Dianalund, DenmarkLiao, Vivian Wan Yu论文数: 0 引用数: 0 h-index: 0机构: Univ Sydney, Fac Med & Hlth, Brain & Mind Ctr, Sch Med Sci, Sydney, NSW 2006, Australia Filadelfia ERN EpiCARE, Danish Epilepsy Ctr, Dept Epilepsy Genet & Personalized Treatment, Dianalund, DenmarkChua, Han Chow论文数: 0 引用数: 0 h-index: 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Laboratory of Medical Genetics, School of Life SciencesJifeng Guo论文数: 0 引用数: 0 h-index: 0机构: Central South University,Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life SciencesBeisha Tang论文数: 0 引用数: 0 h-index: 0机构: Central South University,Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life SciencesLea Leonardis论文数: 0 引用数: 0 h-index: 0机构: Central South University,Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life SciencesKarin Writzl论文数: 0 引用数: 0 h-index: 0机构: Central South University,Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life SciencesBorut Peterlin论文数: 0 引用数: 0 h-index: 0机构: Central South University,Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life SciencesHui Guo论文数: 0 引用数: 0 h-index: 0机构: Central South University,Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life SciencesSajid Malik论文数: 0 引用数: 0 h-index: 0机构: Central South University,Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life SciencesKun Xia论文数: 0 引用数: 0 h-index: 0机构: Central South University,Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life SciencesZhengmao Hu论文数: 0 引用数: 0 h-index: 0机构: Central South University,Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences