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- [11] Unique combination and in silico modeling of biallelic POLR3A variants as a cause of Wiedemann–Rautenstrauch syndromeEuropean Journal of Human Genetics, 2020, 28 : 1675 - 1680Sehime Gulsun Temel论文数: 0 引用数: 0 h-index: 0机构: Bursa Uludag University,Mahmut Cerkez Ergoren论文数: 0 引用数: 0 h-index: 0机构: Bursa Uludag University,Elena Manara论文数: 0 引用数: 0 h-index: 0机构: Bursa Uludag University,Stefano Paolacci论文数: 0 引用数: 0 h-index: 0机构: Bursa Uludag University,Gulten Tuncel论文数: 0 引用数: 0 h-index: 0机构: Bursa Uludag University,Seref Gul论文数: 0 引用数: 0 h-index: 0机构: Bursa Uludag University,Matteo Bertelli论文数: 0 引用数: 0 h-index: 0机构: Bursa Uludag University,
- [12] Nucleolar disruption, activation of P53 and premature senescence in POLR3A-mutated Wiedemann-Rautenstrauch syndrome fibroblastsMECHANISMS OF AGEING AND DEVELOPMENT, 2020, 192Tatiana Baez-Becerra, Cindy论文数: 0 引用数: 0 h-index: 0机构: Univ Nacl Colombia, Inst Genet, Grp Neurociencias & Muerte Celular, Bogota, Colombia Univ Nacl Colombia, Inst Genet, Grp Neurociencias & Muerte Celular, Bogota, ColombiaValencia-Rincon, Estefania论文数: 0 引用数: 0 h-index: 0机构: Univ Nacl Colombia, Inst Genet, Grp Neurociencias & Muerte Celular, Bogota, Colombia Univ Nacl Colombia, Inst Genet, Grp Neurociencias & Muerte Celular, Bogota, ColombiaVelasquez-Mendez, Karen论文数: 0 引用数: 0 h-index: 0机构: Univ Nacl Colombia, Inst Genet, Grp Neurociencias & Muerte Celular, Bogota, Colombia Univ Nacl Colombia, Inst Genet, Grp Neurociencias & Muerte Celular, Bogota, ColombiaRamirez-Suarez, Nelson J.论文数: 0 引用数: 0 h-index: 0机构: Univ Nacl Colombia, Inst Genet, Grp Neurociencias & Muerte Celular, Bogota, Colombia Univ Nacl Colombia, Inst Genet, Grp Neurociencias & Muerte Celular, Bogota, ColombiaGuevara, Claudia论文数: 0 引用数: 0 h-index: 0机构: Univ Nacl Colombia, Inst Genet, Grp Neurociencias & Muerte Celular, Bogota, Colombia Univ Nacl Colombia, Inst Genet, Grp Neurociencias & Muerte Celular, Bogota, ColombiaSandoval-Hernandez, Adrian论文数: 0 引用数: 0 h-index: 0机构: Univ Nacl Colombia, Inst Genet, Grp Neurociencias & Muerte Celular, Bogota, Colombia Univ Nacl Colombia, Fac Ciencias, Dept Quim, Bogota, Colombia Univ Nacl Colombia, Inst Genet, Grp Neurociencias & Muerte Celular, Bogota, ColombiaArboleda-Bustos, Carlos E.论文数: 0 引用数: 0 h-index: 0机构: Univ Nacl Colombia, Inst Genet, Grp Neurociencias & Muerte Celular, Bogota, Colombia Univ Nacl Colombia, Inst Genet, Grp Neurociencias & Muerte Celular, Bogota, ColombiaOlivos-Cisneros, Leonora论文数: 0 引用数: 0 h-index: 0机构: Univ Nacl Autonoma Mexico, Inst Invest Biomed, Dept Biol Celular & Fisiol, Mexico City, DF, Mexico Univ Nacl Colombia, Inst Genet, Grp Neurociencias & Muerte Celular, Bogota, ColombiaGutierrez-Ospina, Gabriel论文数: 0 引用数: 0 h-index: 0机构: Univ Nacl Autonoma Mexico, Inst Invest Biomed, Dept Biol Celular & Fisiol, Mexico City, DF, Mexico Univ Nacl Colombia, Inst Genet, Grp Neurociencias & Muerte Celular, Bogota, ColombiaArboleda, Humberto论文数: 0 引用数: 0 h-index: 0机构: Univ Nacl Colombia, Inst Genet, Grp Neurociencias & Muerte Celular, Bogota, Colombia Univ Nacl Colombia, Fac Med, Dept Pediat, Bogota, Colombia Univ Nacl Colombia, Inst Genet, Grp Neurociencias & Muerte Celular, Bogota, ColombiaArboleda, Gonzalo论文数: 0 引用数: 0 h-index: 0机构: Univ Nacl Colombia, Inst Genet, Grp Neurociencias & Muerte Celular, Bogota, Colombia Univ Nacl Colombia, Fac Med, Dept Patol, Bogota, Colombia Univ Nacl Colombia, Inst Genet, Grp Neurociencias & Muerte Celular, Bogota, Colombia
- [13] A variant of neonatal progeroid syndrome, or Wiedemann-Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GLEUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (04) : 461 - 468Beauregard-Lacroix, Eliane论文数: 0 引用数: 0 h-index: 0机构: St Justine Univ Hosp Ctr, Dept Pediat, Med Genet Div, Montreal, PQ, Canada St Justine Univ Hosp Ctr, Dept Pediat, Med Genet Div, Montreal, PQ, CanadaSalian, Smrithi论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal, CHU St Justine Res Ctr, Montreal, PQ, Canada St Justine Univ Hosp Ctr, Dept Pediat, Med Genet Div, Montreal, PQ, CanadaKim, Hyunyun论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal, CHU St Justine Res Ctr, Montreal, PQ, Canada St Justine Univ Hosp Ctr, Dept Pediat, Med Genet Div, Montreal, PQ, CanadaEhresmann, Sophie论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal, CHU St Justine Res Ctr, Montreal, PQ, Canada St Justine Univ Hosp Ctr, Dept Pediat, Med Genet Div, Montreal, PQ, CanadaD'Amours, Guylaine论文数: 0 引用数: 0 h-index: 0机构: St Justine Univ Hosp Ctr, Dept Pediat, Med Genet Div, Montreal, PQ, Canada St Justine Univ Hosp Ctr, Dept Pediat, Med Genet Div, Montreal, PQ, CanadaGauthier, Julie论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal, CHU St Justine Res Ctr, Montreal, PQ, Canada St Justine Univ Hosp Ctr, Mol Diagnost Lab, Med Biol Unit, Montreal, PQ, Canada Genome Quebec, Integrated Ctr Pediat Clin Genom, Montreal, PQ, Canada St Justine Univ Hosp Ctr, Montreal, PQ, Canada St Justine Univ Hosp Ctr, Dept Pediat, Med Genet Div, Montreal, PQ, CanadaSaillour, Virginie论文数: 0 引用数: 0 h-index: 0机构: St Justine Univ Hosp Ctr, Mol Diagnost Lab, Med Biol Unit, Montreal, PQ, Canada Genome Quebec, Integrated Ctr Pediat Clin Genom, Montreal, PQ, Canada St Justine Univ Hosp Ctr, Montreal, PQ, Canada St Justine Univ Hosp Ctr, Dept Pediat, Med Genet Div, Montreal, PQ, CanadaBernard, Genevieve论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Dept Neurol & Neurosurg, Pediat & Human Genet, Montreal, PQ, Canada McGill Univ, Hlth Ctr, Dept Specialized Med, Div Med Genet, Montreal, PQ, Canada McGill Univ, Hlth Ctr, Res Inst, Child Hlth & Human Dev Program, Montreal, PQ, Canada St Justine Univ Hosp Ctr, Dept Pediat, Med Genet Div, Montreal, PQ, CanadaMitchell, Grant A.论文数: 0 引用数: 0 h-index: 0机构: St Justine Univ Hosp Ctr, Dept Pediat, Med Genet Div, Montreal, PQ, Canada Univ Montreal, CHU St Justine Res Ctr, Montreal, PQ, Canada Genome Quebec, Integrated Ctr Pediat Clin Genom, Montreal, PQ, Canada St Justine Univ Hosp Ctr, Montreal, PQ, Canada St Justine Univ Hosp Ctr, Dept Pediat, Med Genet Div, Montreal, PQ, CanadaSoucy, Jean-Francois论文数: 0 引用数: 0 h-index: 0机构: St Justine Univ Hosp Ctr, Dept Pediat, Med Genet Div, Montreal, PQ, Canada St Justine Univ Hosp Ctr, Mol Diagnost Lab, Med Biol Unit, Montreal, PQ, Canada Genome Quebec, Integrated Ctr Pediat Clin Genom, Montreal, PQ, Canada St Justine Univ Hosp Ctr, Montreal, PQ, Canada St Justine Univ Hosp Ctr, Dept Pediat, Med Genet Div, Montreal, PQ, CanadaMichaud, Jacques L.论文数: 0 引用数: 0 h-index: 0机构: St Justine Univ Hosp Ctr, Dept Pediat, Med Genet Div, Montreal, PQ, Canada Univ Montreal, CHU St Justine Res Ctr, Montreal, PQ, Canada Genome Quebec, Integrated Ctr Pediat Clin Genom, Montreal, PQ, Canada St Justine Univ Hosp Ctr, Montreal, PQ, Canada St Justine Univ Hosp Ctr, Dept Pediat, Med Genet Div, Montreal, PQ, CanadaCampeau, Philippe M.论文数: 0 引用数: 0 h-index: 0机构: St Justine Univ Hosp Ctr, Dept Pediat, Med Genet Div, Montreal, PQ, Canada Univ Montreal, CHU St Justine Res Ctr, Montreal, PQ, Canada St Justine Univ Hosp Ctr, Dept Pediat, Med Genet Div, Montreal, PQ, Canada
- [14] The neonatal progeroid syndrome (Wiedemann-Rautenstrauch): A model for the study of human aging?EXPERIMENTAL GERONTOLOGY, 2007, 42 (10) : 939 - 943Arboleda, Gonzalo论文数: 0 引用数: 0 h-index: 0机构: Univ Nacl Colombia, Fac Med, Dept Pathol, Bogota, Colombia Univ Nacl Colombia, Fac Med, Neurosci Grp, Bogota, ColombiaRamirez, Nelson论文数: 0 引用数: 0 h-index: 0机构: Univ Nacl Colombia, Fac Med, Neurosci Grp, Bogota, ColombiaArboleda, Humberto论文数: 0 引用数: 0 h-index: 0机构: Univ Nacl Colombia, Fac Med, Neurosci Grp, Bogota, Colombia
- [15] Absence of Lamin A/C Gene Mutations in Four Wiedemann-Rautenstrauch Syndrome PatientsAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2009, 149A (12) : 2695 - 2699Morales, Luis C.论文数: 0 引用数: 0 h-index: 0机构: Univ Nacl Colombia, Programa Maestria Neurociencias, Bogota, Colombia Univ Nacl Colombia, Inst Genet, Grp Neurociencias, Bogota, ColombiaArboleda, Gonzalo论文数: 0 引用数: 0 h-index: 0机构: Univ Nacl Colombia, Programa Maestria Neurociencias, Bogota, Colombia Univ Nacl Colombia, Dept Patol, Bogota, Colombia Univ Nacl Colombia, Grp Patol Mol, Bogota, Colombia Univ Nacl Colombia, Inst Genet, Grp Neurociencias, Bogota, ColombiaRodriguez, Yeldy论文数: 0 引用数: 0 h-index: 0机构: Univ Nacl Colombia, Programa Maestria Neurociencias, Bogota, Colombia Univ Nacl Colombia, Inst Genet, Grp Neurociencias, Bogota, ColombiaForero, Diego A.论文数: 0 引用数: 0 h-index: 0机构: Univ Nacl Colombia, Programa Maestria Neurociencias, Bogota, Colombia Univ Nacl Colombia, Inst Genet, Grp Neurociencias, Bogota, ColombiaRamirez, Nelson论文数: 0 引用数: 0 h-index: 0机构: Univ Nacl Colombia, Programa Maestria Neurociencias, Bogota, Colombia Univ Nacl Colombia, Inst Genet, Grp Neurociencias, Bogota, ColombiaYunis, Juan J.论文数: 0 引用数: 0 h-index: 0机构: Univ Nacl Colombia, Programa Maestria Neurociencias, Bogota, Colombia Univ Nacl Colombia, Dept Patol, Bogota, Colombia Univ Nacl Colombia, Grp Patol Mol, Bogota, Colombia Univ Nacl Colombia, Inst Genet, Grp Neurociencias, Bogota, ColombiaArboleda, Humberto论文数: 0 引用数: 0 h-index: 0机构: Univ Nacl Colombia, Inst Genet, Grp Neurociencias, Bogota, Colombia Univ Nacl Colombia, Programa Maestria Neurociencias, Bogota, Colombia Univ Nacl Colombia, Fac Med, Dept Pediat, Bogota, Colombia Univ Nacl Colombia, Inst Genet, Grp Neurociencias, Bogota, Colombia
- [16] Whole-exome sequencing reveals POLR3B variants associated with progeria-related Wiedemann-Rautenstrauch syndromeITALIAN JOURNAL OF PEDIATRICS, 2021, 47 (01)Wu, Shao-Wen论文数: 0 引用数: 0 h-index: 0机构: Capital Med Univ, Beijing Obstet & Gynecol Hosp, Dept Obstet, Beijing 100026, Chaoyang, Peoples R China Beijing Maternal & Child Hlth Care Hosp, Beijing 100026, Peoples R China Capital Med Univ, Beijing Obstet & Gynecol Hosp, Dept Obstet, Beijing 100026, Chaoyang, Peoples R ChinaLi, Lin论文数: 0 引用数: 0 h-index: 0机构: Beijing Maternal & Child Hlth Care Hosp, Beijing 100026, Peoples R China Capital Med Univ, Beijing Obstet & Gynecol Hosp, Cent Lab, Beijing 100026, Peoples R China Capital Med Univ, Beijing Obstet & Gynecol Hosp, Dept Obstet, Beijing 100026, Chaoyang, Peoples R ChinaFeng, Fan论文数: 0 引用数: 0 h-index: 0机构: Tsinghua Univ, Sch Med, Dept Basic Med Sci, Beijing 100084, Peoples R China Capital Med Univ, Beijing Obstet & Gynecol Hosp, Dept Obstet, Beijing 100026, Chaoyang, Peoples R ChinaWang, Li论文数: 0 引用数: 0 h-index: 0机构: Beijing Maternal & Child Hlth Care Hosp, Beijing 100026, Peoples R China Capital Med Univ, Beijing Obstet & Gynecol Hosp, Dept Ultrasound, Beijing 100026, Peoples R China Capital Med Univ, Beijing Obstet & Gynecol Hosp, Dept Obstet, Beijing 100026, Chaoyang, Peoples R ChinaKong, Yuan-Yuan论文数: 0 引用数: 0 h-index: 0机构: Beijing Maternal & Child Hlth Care Hosp, Beijing 100026, Peoples R China Capital Med Univ, Beijing Obstet & Gynecol Hosp, Dept Newborn Screening, Beijing 100026, Peoples R China Capital Med Univ, Beijing Obstet & Gynecol Hosp, Dept Obstet, Beijing 100026, Chaoyang, Peoples R ChinaLiu, Xiao-Wei论文数: 0 引用数: 0 h-index: 0机构: Capital Med Univ, Beijing Obstet & Gynecol Hosp, Dept Obstet, Beijing 100026, Chaoyang, Peoples R China Beijing Maternal & Child Hlth Care Hosp, Beijing 100026, Peoples R China Capital Med Univ, Beijing Obstet & Gynecol Hosp, Dept Obstet, Beijing 100026, Chaoyang, Peoples R ChinaYin, Chenghong论文数: 0 引用数: 0 h-index: 0机构: Beijing Maternal & Child Hlth Care Hosp, Beijing 100026, Peoples R China Capital Med Univ, Beijing Obstet & Gynecol Hosp, Cent Lab, Beijing 100026, Peoples R China Capital Med Univ, Beijing Obstet & Gynecol Hosp, Dept Obstet, Beijing 100026, Chaoyang, Peoples R China
- [17] Whole-exome sequencing reveals POLR3B variants associated with progeria-related Wiedemann-Rautenstrauch syndromeItalian Journal of Pediatrics, 47Shao-Wen Wu论文数: 0 引用数: 0 h-index: 0机构: Beijing Obstetrics and Gynecology Hospital,Department of ObstetricsLin Li论文数: 0 引用数: 0 h-index: 0机构: Beijing Obstetrics and Gynecology Hospital,Department of ObstetricsFan Feng论文数: 0 引用数: 0 h-index: 0机构: Beijing Obstetrics and Gynecology Hospital,Department of ObstetricsLi Wang论文数: 0 引用数: 0 h-index: 0机构: Beijing Obstetrics and Gynecology Hospital,Department of ObstetricsYuan-Yuan Kong论文数: 0 引用数: 0 h-index: 0机构: Beijing Obstetrics and Gynecology Hospital,Department of ObstetricsXiao-Wei Liu论文数: 0 引用数: 0 h-index: 0机构: Beijing Obstetrics and Gynecology Hospital,Department of ObstetricsChenghong Yin论文数: 0 引用数: 0 h-index: 0机构: Beijing Obstetrics and Gynecology Hospital,Department of Obstetrics
- [18] A variant of neonatal progeroid syndrome, or Wiedemann–Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GLEuropean Journal of Human Genetics, 2020, 28 : 461 - 468Eliane Beauregard-Lacroix论文数: 0 引用数: 0 h-index: 0机构: Sainte-Justine University Hospital Center,Medical Genetics Division, Department of PediatricsSmrithi Salian论文数: 0 引用数: 0 h-index: 0机构: Sainte-Justine University Hospital Center,Medical Genetics Division, Department of PediatricsHyunyun Kim论文数: 0 引用数: 0 h-index: 0机构: Sainte-Justine University Hospital Center,Medical Genetics Division, Department of PediatricsSophie Ehresmann论文数: 0 引用数: 0 h-index: 0机构: Sainte-Justine University Hospital Center,Medical Genetics Division, Department of PediatricsGuylaine DʹAmours论文数: 0 引用数: 0 h-index: 0机构: Sainte-Justine University Hospital Center,Medical Genetics Division, Department of PediatricsJulie Gauthier论文数: 0 引用数: 0 h-index: 0机构: Sainte-Justine University Hospital Center,Medical Genetics Division, Department of PediatricsVirginie Saillour论文数: 0 引用数: 0 h-index: 0机构: Sainte-Justine University Hospital Center,Medical Genetics Division, Department of PediatricsGeneviève Bernard论文数: 0 引用数: 0 h-index: 0机构: Sainte-Justine University Hospital Center,Medical Genetics Division, Department of PediatricsGrant A. Mitchell论文数: 0 引用数: 0 h-index: 0机构: Sainte-Justine University Hospital Center,Medical Genetics Division, Department of PediatricsJean-François Soucy论文数: 0 引用数: 0 h-index: 0机构: Sainte-Justine University Hospital Center,Medical Genetics Division, Department of PediatricsJacques L. Michaud论文数: 0 引用数: 0 h-index: 0机构: Sainte-Justine University Hospital Center,Medical Genetics Division, Department of PediatricsPhilippe M. Campeau论文数: 0 引用数: 0 h-index: 0机构: Sainte-Justine University Hospital Center,Medical Genetics Division, Department of Pediatrics
- [19] Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutationsHUMAN GENETICS, 2018, 137 (11-12) : 921 - 939Lessel, Davor论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Martinistr 52, D-20246 Hamburg, Germany Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Martinistr 52, D-20246 Hamburg, GermanyOzel, Ayse Bilge论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USA Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Martinistr 52, D-20246 Hamburg, GermanyCampbell, Susan E.论文数: 0 引用数: 0 h-index: 0机构: Brown Univ, Ctr Gerontol & Healthcare Res, Providence, RI 02912 USA Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Martinistr 52, D-20246 Hamburg, GermanySaadi, Abdelkrim论文数: 0 引用数: 0 h-index: 0机构: CHU Ben Aknoun Alger, Serv Neurol, 2 Route Deux Bassins, Ben Aknoun, Algers, Algeria Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Martinistr 52, D-20246 Hamburg, GermanyArlt, Martin F.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USA Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Martinistr 52, D-20246 Hamburg, GermanyMcSweeney, Keisha Melodi论文数: 0 引用数: 0 h-index: 0机构: US FDA, Oak Ridge Inst Sci & Educ, Off Biotechnol Prod, Ctr Drug Evaluat & Res, Silver Spring, MD 20993 USA Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Martinistr 52, D-20246 Hamburg, GermanyPlaiasu, Vasilica论文数: 0 引用数: 0 h-index: 0机构: Alessandrescu Rusescu INSMC, Reg Ctr Med Genet, Bucharest, Romania Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Martinistr 52, D-20246 Hamburg, GermanySzakszon, Katalin论文数: 0 引用数: 0 h-index: 0机构: Univ Debrecen, Dept Pediat, Debrecen, Hungary Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Martinistr 52, D-20246 Hamburg, GermanySzollos, Anna论文数: 0 引用数: 0 h-index: 0机构: Univ Debrecen, Dept Pediat, Debrecen, Hungary Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Martinistr 52, D-20246 Hamburg, GermanyRusu, Cristina论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Iasi, Dept Genet, Iasi, Romania Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Martinistr 52, D-20246 Hamburg, GermanyRojas, Armando J.论文数: 0 引用数: 0 h-index: 0机构: Pontificia Univ Javeriana, Inst Genet Humana, Fac Med, Bogota, Colombia Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Martinistr 52, D-20246 Hamburg, GermanyLopez-Valdez, Jaime论文数: 0 引用数: 0 h-index: 0机构: Centenario Hosp Miguel Hidalgo, Dept Genet, Aguascalientes, Mexico Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Martinistr 52, D-20246 Hamburg, Germany论文数: 引用数: h-index:机构:Nuernberg, Peter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 Univ Cologne, Cologne Excellence Cluster Cellular Stress Respon, Cologne, Germany Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Martinistr 52, D-20246 Hamburg, GermanyNickerson, Deborah A.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Martinistr 52, D-20246 Hamburg, GermanyBamshad, 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 Med Ctr Hamburg Eppendorf, Inst Human Genet, Martinistr 52, D-20246 Hamburg, GermanyLi, Jun Z.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USA Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Martinistr 52, D-20246 Hamburg, GermanyKubisch, Christian论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Martinistr 52, D-20246 Hamburg, Germany Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Martinistr 52, D-20246 Hamburg, GermanyGlover, Thomas W.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USA Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Martinistr 52, D-20246 Hamburg, GermanyGordon, Leslie B.论文数: 0 引用数: 0 h-index: 0机构: Brown Univ, Warren Alpert Med Sch, Providence, RI 02912 USA Hasbro Childrens Hosp, Div Genet, Dept Pediat, Providence, RI USA Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Martinistr 52, D-20246 Hamburg, Germany
- [20] Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann–Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutationsHuman Genetics, 2018, 137 : 921 - 939Davor Lessel论文数: 0 引用数: 0 h-index: 0机构: University Medical Center Hamburg-Eppendorf,Institute of Human GeneticsAyse Bilge Ozel论文数: 0 引用数: 0 h-index: 0机构: University Medical Center Hamburg-Eppendorf,Institute of Human GeneticsSusan E. Campbell论文数: 0 引用数: 0 h-index: 0机构: University Medical Center Hamburg-Eppendorf,Institute of Human GeneticsAbdelkrim Saadi论文数: 0 引用数: 0 h-index: 0机构: University Medical Center Hamburg-Eppendorf,Institute of Human GeneticsMartin F. Arlt论文数: 0 引用数: 0 h-index: 0机构: University Medical Center Hamburg-Eppendorf,Institute of Human GeneticsKeisha Melodi McSweeney论文数: 0 引用数: 0 h-index: 0机构: University Medical Center Hamburg-Eppendorf,Institute of Human GeneticsVasilica Plaiasu论文数: 0 引用数: 0 h-index: 0机构: University Medical Center Hamburg-Eppendorf,Institute of Human GeneticsKatalin Szakszon论文数: 0 引用数: 0 h-index: 0机构: University Medical Center Hamburg-Eppendorf,Institute of Human GeneticsAnna Szőllős论文数: 0 引用数: 0 h-index: 0机构: University Medical Center Hamburg-Eppendorf,Institute of Human GeneticsCristina Rusu论文数: 0 引用数: 0 h-index: 0机构: University Medical Center Hamburg-Eppendorf,Institute of Human GeneticsArmando J. Rojas论文数: 0 引用数: 0 h-index: 0机构: University Medical Center Hamburg-Eppendorf,Institute of Human GeneticsJaime Lopez-Valdez论文数: 0 引用数: 0 h-index: 0机构: University Medical Center Hamburg-Eppendorf,Institute of Human GeneticsHolger Thiele论文数: 0 引用数: 0 h-index: 0机构: University Medical Center Hamburg-Eppendorf,Institute of Human GeneticsPeter Nürnberg论文数: 0 引用数: 0 h-index: 0机构: University Medical Center Hamburg-Eppendorf,Institute of Human GeneticsDeborah A. Nickerson论文数: 0 引用数: 0 h-index: 0机构: University Medical Center Hamburg-Eppendorf,Institute of Human GeneticsMichael J. Bamshad论文数: 0 引用数: 0 h-index: 0机构: University Medical Center Hamburg-Eppendorf,Institute of Human GeneticsJun Z. Li论文数: 0 引用数: 0 h-index: 0机构: University Medical Center Hamburg-Eppendorf,Institute of Human GeneticsChristian Kubisch论文数: 0 引用数: 0 h-index: 0机构: University Medical Center Hamburg-Eppendorf,Institute of Human GeneticsThomas W. Glover论文数: 0 引用数: 0 h-index: 0机构: University Medical Center Hamburg-Eppendorf,Institute of Human GeneticsLeslie B. Gordon论文数: 0 引用数: 0 h-index: 0机构: University Medical Center Hamburg-Eppendorf,Institute of Human Genetics