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Whole Exome Sequencing Identifies PHF14 Mutations in Neurocytoma and Predicts Responsivity to the PDGFR Inhibitor Sunitinib by Dongyun Zhang, William H. Yong, Masoud Movassaghi, Fausto J. Rodriguez, Issac Yang, Paul McKeever, Jiang Qian, Jian Yi Li, Qinwen Mao, Kathy L. Newell, Richard M. Green, Cynthia T. Welsh, Anthony P. Heaney
Published 2022-11-01
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Unusual Presentations of LMNA-Associated Lipodystrophy with Complex Phenotypes and Generalized Fat Loss: When the Genetic Diagnosis Uncovers Novel Features by Natalia Xavier S. de Andrade, MD, Suleyman Cem Adiyaman, MD, Bernamir De Yuksel, MD, Carla T. Ferrari, MD, Abdelwahab Jalal Eldin, MD, Basak Ozgen Saydam, MD, Canan Altay, MD, Pratima Sharma, MD, Nicole Bhave, MD, Ann Little, MD, Paul McKeever, MD, PhD, Huseyin Onay, MD, Sermin Ozkal, MD, Mustafa Secil, MD, Mustafa Nuri Yenerel, MD, Baris Akinci, MD, Elif A. Oral, MD
Published 2020-03-01
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