共 12 条
- [1] Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch SyndromeAMERICAN JOURNAL OF HUMAN GENETICS, 2018, 103 (06) : 968 - 975Wambach, Jennifer A.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Edward Mallinckrodt Dept Pediat, St Louis, MO 63110 USA St Louis Childrens Hosp, St Louis, MO 63110 USA Washington Univ, Sch Med, Edward Mallinckrodt Dept Pediat, St Louis, MO 63110 USAWegner, Daniel J.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Edward Mallinckrodt Dept Pediat, St Louis, MO 63110 USA St Louis Childrens Hosp, St Louis, MO 63110 USA Washington Univ, Sch Med, Edward Mallinckrodt Dept Pediat, St Louis, MO 63110 USAPatni, Nivedita论文数: 0 引用数: 0 h-index: 0机构: UT Southwestern Med Ctr, Dept Pediat, Dallas, TX 75390 USA UT Southwestern Med Ctr, Ctr Human Nutr, Dallas, TX 75390 USA Washington Univ, Sch Med, Edward Mallinckrodt Dept Pediat, St Louis, MO 63110 USAKircher, Martin论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA Washington Univ, Sch Med, Edward Mallinckrodt Dept Pediat, St Louis, MO 63110 USAWilling, Marcia C.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Edward Mallinckrodt Dept Pediat, St Louis, MO 63110 USA St Louis Childrens Hosp, St Louis, MO 63110 USA Washington Univ, Sch Med, Edward Mallinckrodt Dept Pediat, St Louis, MO 63110 USABaldridge, Dustin论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Edward Mallinckrodt Dept Pediat, St Louis, MO 63110 USA St Louis Childrens Hosp, St Louis, MO 63110 USA Washington Univ, Sch Med, Edward Mallinckrodt Dept Pediat, St Louis, MO 63110 USAXing, Chao论文数: 0 引用数: 0 h-index: 0机构: UT Southwestern Med Ctr, McDermott Ctr Human Growth & Dev, Dept Bioinformat, Dallas, TX 75390 USA UT Southwestern Med Ctr, Dept Clin Sci, Dallas, TX 75390 USA Washington Univ, Sch Med, Edward Mallinckrodt Dept Pediat, St Louis, MO 63110 USAAgarwal, Anil K.论文数: 0 引用数: 0 h-index: 0机构: Univ Texas Southwestern Med Ctr Dallas, Ctr Human Nutr, Dept Internal Med, Div Nutr Metab Dis, Dallas, TX 75390 USA Washington Univ, Sch Med, Edward Mallinckrodt Dept Pediat, St Louis, MO 63110 USAVergano, Samantha A. Schrier论文数: 0 引用数: 0 h-index: 0机构: Eastern Virginia Med Sch, Dept Pediat, Childrens Hosp Kings Daughters, Div Med Genet & Metab, Norfolk, VA 23507 USA Washington Univ, Sch Med, Edward Mallinckrodt Dept Pediat, St Louis, MO 63110 USAPatel, Chirag论文数: 0 引用数: 0 h-index: 0机构: Royal Brisbane & Womens Hosp, Genet Hlth Queensland, Brisbane, Qld 4029, Australia Washington Univ, Sch Med, Edward Mallinckrodt Dept Pediat, St Louis, MO 63110 USAGrange, Dorothy K.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Edward Mallinckrodt Dept Pediat, St Louis, MO 63110 USA St Louis Childrens Hosp, St Louis, MO 63110 USA Washington Univ, Sch Med, Edward Mallinckrodt Dept Pediat, St Louis, MO 63110 USAKenney, Amy论文数: 0 引用数: 0 h-index: 0机构: Eastern Virginia Med Sch, Dept Pediat, Childrens Hosp Kings Daughters, Div Med Genet & Metab, Norfolk, VA 23507 USA Washington Univ, Sch Med, Edward Mallinckrodt Dept Pediat, St Louis, MO 63110 USANajaf, Tasnim论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Edward Mallinckrodt Dept Pediat, St Louis, MO 63110 USA St Louis Childrens Hosp, St Louis, MO 63110 USA Washington Univ, Sch Med, Fetal Care Ctr, St Louis, MO 63110 USA Washington Univ, Sch Med, Edward Mallinckrodt Dept Pediat, St Louis, MO 63110 USANickerson, Deborah A.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA Washington Univ, Sch Med, Edward Mallinckrodt Dept Pediat, St Louis, MO 63110 USABamshad, Michael J.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA Univ Washington, Dept Pediat, Seattle, WA 98195 USA Washington Univ, Sch Med, Edward Mallinckrodt Dept Pediat, St Louis, MO 63110 USACole, F. Sessions论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Edward Mallinckrodt Dept Pediat, St Louis, MO 63110 USA St Louis Childrens Hosp, St Louis, MO 63110 USA Washington Univ, Sch Med, Edward Mallinckrodt Dept Pediat, St Louis, MO 63110 USAGarg, Abhimanyu论文数: 0 引用数: 0 h-index: 0机构: Univ Texas Southwestern Med Ctr Dallas, Ctr Human Nutr, Dept Internal Med, Div Nutr Metab Dis, Dallas, TX 75390 USA Washington Univ, Sch Med, Edward Mallinckrodt Dept Pediat, St Louis, MO 63110 USA
- [2] Further delineation of Wiedemann-Rautenstrauch syndrome linked with POLR3AMOLECULAR GENETICS & GENOMIC MEDICINE, 2024, 12 (03):Khan, Amjad论文数: 0 引用数: 0 h-index: 0机构: Univ Lakki Marwat, Fac Sci, Dept Biol Sci Zool, Lakki Marwat, Pakistan Univ Tubingen, Inst Med Genet & Appl Genom, Tubingen, Germany Alexander von Humboldt Fellowship Fdn, Berlin, Germany Univ Lakki Marwat, Fac Sci, Dept Biol Sci Zool, Lakki Marwat, PakistanAl Shamsi, Bushra论文数: 0 引用数: 0 h-index: 0机构: Royal Hosp, Natl Genet Ctr, Minist Hlth, Muscat, Oman Royal Hosp, Child Hlth Dept, Minist Hlth, Muscat, Oman Univ Lakki Marwat, Fac Sci, Dept Biol Sci Zool, Lakki Marwat, PakistanAl Shehhi, Maryam论文数: 0 引用数: 0 h-index: 0机构: Royal Hosp, Natl Genet Ctr, Minist Hlth, Muscat, Oman Univ Lakki Marwat, Fac Sci, Dept Biol Sci Zool, Lakki Marwat, PakistanKashgari, Amna A.论文数: 0 引用数: 0 h-index: 0机构: King Saud Bin Abdulaziz Univ Hlth Sci, King Abdullah Int Med Res Ctr KAIMRC, King Abdulaziz Med City, Minist Natl Guard Hlth Affairs MNGHA,Genet Div,Dep, Riyadh, Saudi Arabia King Abdullah Specialized Childrens Hosp KASCH, Minist Natl Guard Hlth Affairs, Riyadh, Saudi Arabia Univ Lakki Marwat, Fac Sci, Dept Biol Sci Zool, Lakki Marwat, PakistanAl Balushi, Aaisha论文数: 0 引用数: 0 h-index: 0机构: Royal Hosp, Natl Genet Ctr, Minist Hlth, Muscat, Oman Royal Hosp, Child Hlth Dept, Minist Hlth, Muscat, Oman Univ Lakki Marwat, Fac Sci, Dept Biol Sci Zool, Lakki Marwat, PakistanAl Dihan, Fahad A.论文数: 0 引用数: 0 h-index: 0机构: King Saud Bin Abdulaziz Univ Hlth Sci, Coll Med, Riyadh, Saudi Arabia Univ Lakki Marwat, Fac Sci, Dept Biol Sci Zool, Lakki Marwat, PakistanAlghamdi, Mohannad A.论文数: 0 引用数: 0 h-index: 0机构: King Saud Bin Abdulaziz Univ Hlth Sci, Coll Med, Riyadh, Saudi Arabia Univ Lakki Marwat, Fac Sci, Dept Biol Sci Zool, Lakki Marwat, PakistanManal, Abothnain论文数: 0 引用数: 0 h-index: 0机构: King Saud Bin Abdulaziz Univ Hlth Sci, King Abdullah Int Med Res Ctr KAIMRC, King Abdulaziz Med City, Minist Natl Guard Hlth Affairs MNGHA,Genet Div,Dep, Riyadh, Saudi Arabia King Abdullah Specialized Childrens Hosp KASCH, Minist Natl Guard Hlth Affairs, Riyadh, Saudi Arabia Univ Lakki Marwat, Fac Sci, Dept Biol Sci Zool, Lakki Marwat, PakistanGonzalez-alvarez, Ana C.论文数: 0 引用数: 0 h-index: 0机构: King Abdullah Univ Sci & Technol KAUST, Biosci Program, Bioengn Program, Biol & Environm Sci & Engn Div, Thuwal, Saudi Arabia King Abdullah Univ Sci & Technol, Computat Biosci Res Ctr, Thuwal, Saudi Arabia Univ Lakki Marwat, Fac Sci, Dept Biol Sci Zool, Lakki Marwat, PakistanArold, Stefan T.论文数: 0 引用数: 0 h-index: 0机构: King Abdullah Univ Sci & Technol KAUST, Biosci Program, Bioengn Program, Biol & Environm Sci & Engn Div, Thuwal, Saudi Arabia King Abdullah Univ Sci & Technol, Computat Biosci Res Ctr, Thuwal, Saudi Arabia Univ Montpellier, Ctr Biol Structurale CBS, INSERM, CNRS, Montpellier, France Univ Lakki Marwat, Fac Sci, Dept Biol Sci Zool, Lakki Marwat, PakistanEyaid, Wafaa论文数: 0 引用数: 0 h-index: 0机构: King Saud Bin Abdulaziz Univ Hlth Sci, King Abdullah Int Med Res Ctr KAIMRC, King Abdulaziz Med City, Minist Natl Guard Hlth Affairs MNGHA,Genet Div,Dep, Riyadh, Saudi Arabia King Abdullah Specialized Childrens Hosp KASCH, Minist Natl Guard Hlth Affairs, Riyadh, Saudi Arabia Univ Lakki Marwat, Fac Sci, Dept Biol Sci Zool, Lakki Marwat, Pakistan
- [3] Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndromeJOURNAL OF MEDICAL GENETICS, 2018, 55 (12) : 837 - 845Paolacci, Stefano论文数: 0 引用数: 0 h-index: 0机构: Sapienza Univ Rome, Dept Expt Med, Rome, Italy Sapienza Univ Rome, Dept Expt Med, Rome, ItalyLi, Yun论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Gottingen, Inst Human Genet, Gottingen, Germany Sapienza Univ Rome, Dept Expt Med, Rome, ItalyAgolini, Emanuele论文数: 0 引用数: 0 h-index: 0机构: Osped Pediat Bambino Gesu, Genet & Rare Dis Res Div, Rome, Italy Sapienza Univ Rome, Dept Expt Med, Rome, ItalyBellacchio, Emanuele论文数: 0 引用数: 0 h-index: 0机构: Osped Pediat Bambino Gesu, Genet & Rare Dis Res Div, Rome, Italy Sapienza Univ Rome, Dept Expt Med, Rome, ItalyArboleda-Bustos, Carlos E.论文数: 0 引用数: 0 h-index: 0机构: Univ Nacl Colombia, Neurosci & Cell Death Grp, Fac Med, Bogota, Colombia Univ Nacl Colombia, Inst Genet, Bogota, Colombia Sapienza Univ Rome, Dept Expt Med, Rome, Italy论文数: 引用数: h-index:机构:Bertola, Debora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 Sao Paulo, Inst Biociencias, Ctr Estudos Genoma Humano & Celulas Tronco, Sao Paulo, Brazil Sapienza Univ Rome, Dept Expt Med, Rome, ItalyAl-Gazali, Lihadh论文数: 0 引用数: 0 h-index: 0机构: United Arab Emirates Univ, Coll Med & Hlth Sci, Dept Paediat, Al Ain, U Arab Emirates Sapienza Univ Rome, Dept Expt Med, Rome, ItalyAlders, Mariel论文数: 0 引用数: 0 h-index: 0机构: Univ Amsterdam, Acad Med Ctr, Dept Clin Genet, Amsterdam, Netherlands Sapienza Univ Rome, Dept Expt Med, Rome, ItalyAltmueller, Janine论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, Cologne Ctr Genom, Cologne, Germany Univ Cologne, Ctr Mol Med Cologne, Cologne, Germany Sapienza Univ Rome, Dept Expt Med, Rome, ItalyArboleda, Gonzalo论文数: 0 引用数: 0 h-index: 0机构: Univ Nacl Colombia, Neurosci & Cell Death Grp, Fac Med, Bogota, Colombia Univ Nacl Colombia, Inst Genet, Bogota, Colombia Sapienza Univ Rome, Dept Expt Med, Rome, ItalyBeleggia, Filippo论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Cologne, Dept Internal Med 1, Cologne, Germany Sapienza Univ Rome, Dept Expt Med, Rome, ItalyBruselles, Alessandro论文数: 0 引用数: 0 h-index: 0机构: Ist Super Sanita, Dipartimento Oncol & Med Mol, Rome, Italy Sapienza Univ Rome, Dept Expt Med, Rome, ItalyCiolfi, Andrea论文数: 0 引用数: 0 h-index: 0机构: Osped Pediat Bambino Gesu, Genet & Rare Dis Res Div, Rome, Italy Sapienza Univ Rome, Dept Expt Med, Rome, ItalyGillessen-Kaesbach, Gabriele论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Inst Human Genet, Lubeck, Germany Sapienza Univ Rome, Dept Expt Med, Rome, ItalyKrieg, Thomas论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Cologne, Dept Dermatol, Cologne, Germany Sapienza Univ Rome, Dept Expt Med, Rome, ItalyMohammed, Shehla论文数: 0 引用数: 0 h-index: 0机构: Guys Hosp, Dept Clin Genet, London, England Sapienza Univ Rome, Dept Expt Med, Rome, ItalyMueller, Christian论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Gottingen, Inst Human Genet, Gottingen, Germany Sapienza Univ Rome, Dept Expt Med, Rome, ItalyNoyelli, Antonio论文数: 0 引用数: 0 h-index: 0机构: Osped Pediat Bambino Gesu, Genet & Rare Dis Res Div, Rome, Italy Sapienza Univ Rome, Dept Expt Med, Rome, ItalyOrtega, Jenny论文数: 0 引用数: 0 h-index: 0机构: Univ Nacl Colombia, Neurosci & Cell Death Grp, Fac Med, Bogota, Colombia Univ Nacl Colombia, Inst Genet, Bogota, Colombia Sapienza Univ Rome, Dept Expt Med, Rome, ItalySandoval, Adrian论文数: 0 引用数: 0 h-index: 0机构: Univ Nacl Colombia, Neurosci & Cell Death Grp, Fac Med, Bogota, Colombia Univ Nacl Colombia, Inst Genet, Bogota, Colombia Sapienza Univ Rome, Dept Expt Med, Rome, ItalyVelasco, Gloria论文数: 0 引用数: 0 h-index: 0机构: Univ Oviedo, Inst Univ Oncol IUOPA, Dept Bioquim & Biol Mol, Oviedo, Spain Ctr Invest Biomed Red Canc, Oviedo, Spain Sapienza Univ Rome, Dept Expt Med, Rome, ItalyYigit, Goekhan论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Gottingen, Inst Human Genet, Gottingen, Germany Sapienza Univ Rome, Dept Expt Med, Rome, ItalyArboleda, Humberto论文数: 0 引用数: 0 h-index: 0机构: Univ Nacl Colombia, Neurosci & Cell Death Grp, Fac Med, Bogota, Colombia Univ Nacl Colombia, Inst Genet, Bogota, Colombia Sapienza Univ Rome, Dept Expt Med, Rome, ItalyLopez-Otin, Carlos论文数: 0 引用数: 0 h-index: 0机构: Univ Oviedo, Inst Univ Oncol IUOPA, Dept Bioquim & Biol Mol, Oviedo, Spain Ctr Invest Biomed Red Canc, Oviedo, Spain Sapienza Univ Rome, Dept Expt Med, Rome, ItalyWollnik, Bernd论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Gottingen, Inst Human Genet, Gottingen, Germany Sapienza Univ Rome, Dept Expt Med, Rome, ItalyTartaglia, Marco论文数: 0 引用数: 0 h-index: 0机构: Osped Pediat Bambino Gesu, Genet & Rare Dis Res Div, Rome, Italy Sapienza Univ Rome, Dept Expt Med, Rome, ItalyHennekam, Raoul C.论文数: 0 引用数: 0 h-index: 0机构: Univ Amsterdam, Amsterdam UMC Locat AMC, Dept Paediat, Amsterdam, Netherlands Sapienza Univ Rome, Dept Expt Med, Rome, Italy
- [4] Mutations in POLR3A and POLR3B Encoding RNA Polymerase III Subunits Cause an Autosomal-Recessive Hypomyelinating LeukoencephalopathyAMERICAN JOURNAL OF HUMAN GENETICS, 2011, 89 (05) : 644 - 651论文数: 引用数: h-index:机构:Osaka, Hitoshi论文数: 0 引用数: 0 h-index: 0机构: Kanagawa Childrens Med Ctr, Clin Res Inst, Div Neurol, Minami Ku, Yokohama, Kanagawa 2328555, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, Yokohama, Kanagawa 2360004, JapanSasaki, Masayuki论文数: 0 引用数: 0 h-index: 0机构: Natl Ctr Neurol & Psychiat, Dept Child Neurol, Tokyo 1878551, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, Yokohama, Kanagawa 2360004, JapanTakanashi, Jun-ichi论文数: 0 引用数: 0 h-index: 0机构: Kameda Med Ctr, Dept Pediat, Kamogawa, Chiba 2968602, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, Yokohama, Kanagawa 2360004, JapanHamada, Keisuke论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Biochem, Kanazawa Ku, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, Yokohama, Kanagawa 2360004, JapanYamashita, Akio论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Mol Biol, Kanazawa Ku, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, Yokohama, Kanagawa 2360004, JapanShibayama, Hidehiro论文数: 0 引用数: 0 h-index: 0机构: Kameda Med Ctr, Dept Neurol, Kamogawa, Chiba 2968602, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, Yokohama, Kanagawa 2360004, JapanShiina, Masaaki论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Biochem, Kanazawa Ku, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, Yokohama, Kanagawa 2360004, JapanKondo, Yukiko论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, Yokohama, Kanagawa 2360004, JapanNishiyama, Kiyomi论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, Yokohama, Kanagawa 2360004, JapanTsurusaki, Yoshinori论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, Yokohama, Kanagawa 2360004, JapanMiyake, Noriko论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, Yokohama, Kanagawa 2360004, JapanDoi, Hiroshi论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, Yokohama, Kanagawa 2360004, JapanOgata, Kazuhiro论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Biochem, Kanazawa Ku, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, Yokohama, Kanagawa 2360004, JapanInoue, Ken论文数: 0 引用数: 0 h-index: 0机构: Natl Ctr Neurol & Psychiat, Dept Mental Retardat & Birth Defect Res, Natl Inst Neurosci, Tokyo 1878551, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, Yokohama, Kanagawa 2360004, JapanMatsumoto, Naomichi论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, Yokohama, Kanagawa 2360004, Japan
- [5] Wiedemann-Rautenstrauch syndrome in an Indian patient with biallelic pathogenic variants in POLR3AAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2021, 185 (05) : 1602 - 1605Majethia, Purvi论文数: 0 引用数: 0 h-index: 0机构: Manipal Acad Higher Educ, Kasturba Med Coll, Dept Med Genet, Manipal 576104, India Manipal Acad Higher Educ, Kasturba Med Coll, Dept Med Genet, Manipal 576104, IndiaGirisha, Katta Mohan论文数: 0 引用数: 0 h-index: 0机构: Manipal Acad Higher Educ, Kasturba Med Coll, Dept Med Genet, Manipal 576104, India Manipal Acad Higher Educ, Kasturba Med Coll, Dept Med Genet, Manipal 576104, India
- [6] Analysis of the role of the POLR3A gene in cellular senescence: Wiedemann-Rautenstrauch syndrome as a modelMOLECULAR BIOLOGY OF THE CELL, 2023, 34 (02) : 766 - 766Arboleda, G.论文数: 0 引用数: 0 h-index: 0机构: Univ Nacl Colombia, Bogota, Colombia Univ Nacl Colombia, Bogota, ColombiaVelasquez-Mendez, K.论文数: 0 引用数: 0 h-index: 0机构: Univ Nacl Colombia, Bogota, Colombia Univ Nacl Colombia, Bogota, ColombiaArboleda, H.论文数: 0 引用数: 0 h-index: 0机构: Univ Nacl Colombia, Bogota, Colombia Univ Nacl Colombia, Bogota, Colombia
- [7] Biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome with atypical brain involvementCLINICAL AND EXPERIMENTAL PEDIATRICS, 2023, 66 (03) : 142 - 144Moon, Byungseung论文数: 0 引用数: 0 h-index: 0机构: Seoul Natl Univ, Dept Pediat, Childrens Hosp, 101 Daehak Ro, Seoul 03080, South Korea Seoul Natl Univ, Dept Pediat, Childrens Hosp, 101 Daehak Ro, Seoul 03080, South KoreaKim, Minhye论文数: 0 引用数: 0 h-index: 0机构: Seoul Natl Univ, Dept Pediat, Childrens Hosp, 101 Daehak Ro, Seoul 03080, South Korea Seoul Natl Univ, Dept Pediat, Childrens Hosp, 101 Daehak Ro, Seoul 03080, South KoreaKim, Hye Jin论文数: 0 引用数: 0 h-index: 0机构: Seoul Natl Univ, Dept Pediat, Childrens Hosp, 101 Daehak Ro, Seoul 03080, South Korea Seoul Natl Univ, Dept Pediat, Childrens Hosp, 101 Daehak Ro, Seoul 03080, South KoreaCho, Jae So论文数: 0 引用数: 0 h-index: 0机构: Seoul Natl Univ, Dept Pediat, Childrens Hosp, 101 Daehak Ro, Seoul 03080, South Korea Seoul Natl Univ, Dept Pediat, Childrens Hosp, 101 Daehak Ro, Seoul 03080, South KoreaSon, Hey Joon论文数: 0 引用数: 0 h-index: 0机构: Seoul Natl Univ, Dept Pediat, Childrens Hosp, 101 Daehak Ro, Seoul 03080, South Korea Seoul Natl Univ, Dept Pediat, Childrens Hosp, 101 Daehak Ro, Seoul 03080, South KoreaLim, Byung Chan论文数: 0 引用数: 0 h-index: 0机构: Seoul Natl Univ, Dept Pediat, Childrens Hosp, 101 Daehak Ro, Seoul 03080, South Korea Seoul Natl Univ, Dept Pediat, Childrens Hosp, 101 Daehak Ro, Seoul 03080, South KoreaKim, Ki Joong论文数: 0 引用数: 0 h-index: 0机构: Seoul Natl Univ, Dept Pediat, Childrens Hosp, 101 Daehak Ro, Seoul 03080, South Korea Seoul Natl Univ, Dept Pediat, Childrens Hosp, 101 Daehak Ro, Seoul 03080, South KoreaChae, Jong Hee论文数: 0 引用数: 0 h-index: 0机构: Seoul Natl Univ, Dept Pediat, Childrens Hosp, 101 Daehak Ro, Seoul 03080, South Korea Seoul Natl Univ Hosp, Dept Genom Med, Seoul, South Korea Seoul Natl Univ, Dept Pediat, Childrens Hosp, 101 Daehak Ro, Seoul 03080, South KoreaKim, Soo Yeon论文数: 0 引用数: 0 h-index: 0机构: Seoul Natl Univ, Dept Pediat, Childrens Hosp, 101 Daehak Ro, Seoul 03080, South Korea Seoul Natl Univ Hosp, Dept Genom Med, Seoul, South Korea Seoul Natl Univ, Dept Pediat, Childrens Hosp, 101 Daehak Ro, Seoul 03080, South Korea
- [8] Characterization and in silico modelling of bi-allelic POLR3A mutations as a cause of Wiedemann-Rautenstrauch syndromeFEBS OPEN BIO, 2018, 8 : 143 - 144Betmezoglu, M.论文数: 0 引用数: 0 h-index: 0机构: Near East Univ, Fac Med, Dept Med Biol, Nicosia, Cyprus Near East Univ, Hlth Sci Inst, Dept Mol Med, Nicosia, Cyprus Near East Univ, Fac Med, Dept Med Biol, Nicosia, CyprusTerali, K.论文数: 0 引用数: 0 h-index: 0机构: Near East Univ, Dept Med Biochem, Fac Med, Nicosia, Cyprus Near East Univ, Fac Med, Dept Med Biol, Nicosia, CyprusManara, E.论文数: 0 引用数: 0 h-index: 0机构: MAGI Euregio, Bolzano, Italy Near East Univ, Fac Med, Dept Med Biol, Nicosia, CyprusMocan, G.论文数: 0 引用数: 0 h-index: 0机构: Near East Univ, Fac Med, Dept Med Biol, Nicosia, Cyprus Near East Univ, Fac Med, Dept Med Biol, Nicosia, CyprusTemel, S. G.论文数: 0 引用数: 0 h-index: 0机构: Uludag Univ, Dept Med Genet, Fac Med, Bursa, Turkey Near East Univ, Fac Med, Dept Med Biol, Nicosia, CyprusBertelli, M.论文数: 0 引用数: 0 h-index: 0机构: MAGI Euregio, Bolzano, Italy Near East Univ, Fac Med, Dept Med Biol, Nicosia, CyprusErgoren, M. C.论文数: 0 引用数: 0 h-index: 0机构: Near East Univ, Fac Med, Dept Med Biol, Nicosia, Cyprus Near East Univ, Fac Med, Dept Med Biol, Nicosia, Cyprus
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