학술논문
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'학술논문'
에서 검색결과 8건 | 목록
1~20
Academic Journal
Stephenson S. E. M.; Costain G.; Blok L. E. R.; Silk M. A.; Nguyen T. B.; Dong X.; Alhuzaimi D. E.; Dowling J. J.; Walker S.; Amburgey K.; Hayeems R. Z.; Rodan L. H.; Schwartz M. A.; Picker J.; Lynch S. A.; Gupta A.; Rasmussen K. J.; Schimmenti L. A.; Klee E. W.; Niu Z.; Agre K. E.; Chilton I.; Chung W. K.; Revah-Politi A.; Au P. Y. B.; Griffith C.; Racobaldo M.; Raas-Rothschild A.; Ben Zeev B.; Barel O.; Moutton S.; Morice-Picard F.; Carmignac V.; Cornaton J.; Marle N.; Devinsky O.; Stimach C.; Wechsler S. B.; Hainline B. E.; Sapp K.; Willems M.; Bruel A. -L.; Dias K. -R.; Evans C. -A.; Roscioli T.; Sachdev R.; Temple S. E. L.; Zhu Y.; Baker J. J.; Scheffer I. E.; Gardiner F. J.; Schneider A. L.; Muir A. M.; Mefford H. C.; Crunk A.; Heise E. M.; Millan F.; Monaghan K. G.; Person R.; Rhodes L.; Richards S.; Wentzensen I. M.; Cogne B.; Isidor B.; Nizon M.; Vincent M.; Besnard T.; Piton A.; Marcelis C.; Kato K.; Koyama N.; Ogi T.; Goh E. S. -Y.; Richmond C.; Amor D. J.; Boyce J. O.; Morgan A. T.; Hildebrand M. S.; Kaspi A.; Bahlo M.; Fridriksdottir R.; Katrinardottir H.; Sulem P.; Stefansson K.; Bjornsson H. T.; Mandelstam S.; Morleo M.; Mariani M.; Scala M.; Accogli A.; Torella A.; Capra V.; Wallis M.; Jansen S.; Weisfisz Q.; de Haan H.; Sadedin S.; Lim S. C.; White S. M.; Ascher D. B.; Schenck A.; Lockhart P. J.; Christodoulou J.; Tan T. Y.
TUDP Study Group & Broad Center for Mendelian Genomics 2022, 'Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome', American journal of human genetics, vol. 109, no. 4, pp. 601-617. https://doi.org/10.1016/j.ajhg.2022.03.002
American Journal of Human Genetics, 109, 4, pp. 601-617
American Journal of Human Genetics, 109, 4, pp. 601-617
Academic Journal
Nikhita Gogate; Angad Jolly; Jill A. Rosenfeld; Paulina Bahena-Carbajal; Jonathan A. Bernstein; Devon Bonner; Tiffany Busa; Ingrid Cristian; Precilla D’Souza; Jennifer Friedman; Svetlana Gorokhova; Thomas Haaf; Isabella Herman; Ugur Ufuk Isin; Shalini N Jhangiani; Ivy Johnson; Jerica Lenberg; Ellen F. Macnamara; Reza Maroofian; Undiagnosed Diseases Network; Melissa Racobaldo; Olivia L Redlich; Cynthia Tifft; Tulay Tos; Barbara Vona; Regina M. Zambrano; Ingrid M. Wentzensen; Kristen Wigby; Davut Pehlivan; Richard A Gibbs; James R Lupski; Jennifer E Posey
medRxiv
Academic Journal
Jennifer N. Dines; Yajuan J. Liu; Whitney Neufeld‐Kaiser; Taylor Sawyer; Gisele E. Ishak; Hannah M. Tully; Melissa Racobaldo; Amarilis Sanchez‐Valle; Christine M. Disteche; Jane Juusola; Erin Torti; Kirsty McWalter; Dan Doherty; Katrina M. Dipple
American Journal of Medical Genetics Part A. 179:1783-1790
Academic Journal
Cragun D; College of Public Health, University of South Florida, Tampa, Florida, USA.; Trepanier A; Center for Molecular Medicine and Genetics, Wayne State University, Detroit, Michigan, USA.; Krstić N; Department of Obstetrics and Gynecology, University of South Florida Morsani College of Medicine, Tampa, Florida, USA.; Racobaldo M; Department of Pediatrics, University of South Florida Morsani College of Medicine, Tampa, Florida, USA.; Hunt P; College of Public Health, University of South Florida, Tampa, Florida, USA.; Randall Armel S; Bhalwani Familial Cancer Clinic, Princess Margaret Cancer Center, Toronto, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.
Publisher: Wiley Country of Publication: United States NLM ID: 9206865 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-3599 (Electronic) Linking ISSN: 10597700 NLM ISO Abbreviation: J Genet Couns Subsets: MEDLINE
Academic Journal
Hui Guo; Ying Li; Lu Shen; Tianyun Wang; Xiangbin Jia; Lijuan Liu; Tao Xu; Mengzhu Ou; Kendra Hoekzema; Huidan Wu; Madelyn A. Gillentine; Cenying Liu; Hailun Ni; Pengwei Peng; Rongjuan Zhao; Yu Zhang; Chanika Phornphutkul; Alexander P. A. Stegmann; Carlos E. Prada; Robert J. Hopkin; Joseph T. Shieh; Kirsty McWalter; Kristin G. Monaghan; Peter M. van Hasselt; Koen van Gassen; Ting Bai; Min Long; Lin Han; Yingting Quan; Meilin Chen; Yaowen Zhang; Kuokuo Li; Qiumeng Zhang; Jieqiong Tan; Tengfei Zhu; Yaning Liu; Nan Pang; Jing Peng; Daryl A. Scott; Seema R. Lalani; Mahshid Azamian; Grazia M. S. Mancini; Darius J. Adams; Malin Kvarnung; Anna Lindstrand; Ann Nordgren; Jonathan Pevsner; Ikeoluwa A. Osei-Owusu; Corrado Romano; Giuseppe Calabrese; Ornella Galesi; Jozef Gecz; Eric Haan; Judith Ranells; Melissa Racobaldo; Magnus Nordenskjold; Suneeta Madan-Khetarpal; Jessica Sebastian; Susie Ball; Xiaobing Zou; Jingping Zhao; Zhengmao Hu; Fan Xia; Pengfei Liu; Jill A. Rosenfeld; Bert B. A. de Vries; Raphael A. Bernier; Zhi-Qing David Xu; Honghui Li; Wei Xie; Robert B. Hufnagel; Evan E. Eichler; Kun Xia
Sci Adv
Science Advances, 5, 9
Science Advances, 5, 9
Academic Journal
Zale A; Department of Maternal Fetal Medicine, Orlando Health, Orlando, Florida, USA.; Zierhut H; Department of Genetics, University of Minnesota, Minneapolis, Minnesota, USA.; Dean M; Department of Communication, University of South Florida, Tampa, Florida, USA.; H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida, USA.; Berry DK; H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida, USA.; Racobaldo M; Division of Genetics and Metabolism, University of South Florida, Tampa, Florida, USA.; Cragun D; College of Public Health, University of South Florida, Tampa, Florida, USA.
Publisher: Wiley Country of Publication: United States NLM ID: 9206865 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-3599 (Electronic) Linking ISSN: 10597700 NLM ISO Abbreviation: J Genet Couns Subsets: MEDLINE
Academic Journal
Luo M; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Department of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.; Fan J; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Wenger TL; Department of Pediatrics, Seattle Children's Hospital, Seattle, Washington.; Harr MH; Division of Craniofacial Medicine, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Racobaldo M; Department of Pediatrics, Division of Genetics and Metabolism, University of South Florida College of Medicine, Tampa, Florida.; Mulchandani S; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Dubbs H; Division of Neurology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Zackai EH; Division of Craniofacial Medicine, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Department of Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.; Spinner NB; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Department of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.; Conlin LK; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Department of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.
Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE
Academic Journal
Glasofer A; Virtua Health Center for Nursing Excellence & Innovation (Dr Glasofer, Ms Epstein, Drs Lynch and Politsky, Ms Racobaldo, Mr Bocchese, and Ms Patterson), Marlton, New Jersey; Virtua Marlton (Ms Carlino-Filippone and Dr O'Malley), Marlton, New Jersey; Rowan-Virtua Rita & Larry Salva School of Nursing and Health Professions (Drs Galosi and Iannaco), Glassboro, New Jersey; Virtua Voorhees (Drs Larsen and DSouza), Voorhees, New Jersey; Virtua Mount Holly (Ms Krieg), Mt. Holly, New Jersey; and Virtua Our Lady of Lourdes School of Nursing (Dr Pilong), Stratford, New Jersey.; Carlino-Filippone R; O'Malley K; Brown Epstein HA; Galosi G; Larsen D; Lynch M; Politsky S; Racobaldo A; DSouza P; Krieg R; Pilong K; Bocchese S; Iannaco D; Patterson J
Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 8702105 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1550-5138 (Electronic) Linking ISSN: 08879311 NLM ISO Abbreviation: Holist Nurs Pract Subsets: MEDLINE
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제한된 항목
[검색어] Racobaldo, M.
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