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M Pena

Showing results (221-230 of 245) with videos related to

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European Journal of Human Genetics : EJHG|February 20, 2024
Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowthFrederike L Harms, Jessica Erin Rexach, Stephanie Efthymiou, et al.
BMC Health Services Research|August 24, 2018
Characteristics of undiagnosed diseases network applicants: implications for referring providersNicole M Walley, Loren D M Pena, Stephen R Hooper, et al.
Radiation Oncology (London, England)|March 28, 2025
Smoking increases breast toxicity despite adjuvant hypofractionated IMRT in early breast cancerAna A Díaz-Gavela, E Del Cerro, S Sanchez-Garcia, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 16, 2019
Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe diseasePriya S Kishnani, James B Gibson, Michael J Gambello, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 23, 2018
Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective studySi Houn Hahn, David Kronn, Nancy D Leslie, et al.
Cold Spring Harbor Molecular Case Studies|July 5, 2018
Further evidence for the involvement of <i>EFL1</i> in a Shwachman-Diamond-like syndrome and expansion of the phenotypic featuresQueenie K-G Tan, Heidi Cope, Rebecca C Spillmann, et al.
Ebiomedicine|January 14, 2022
Predicting sepsis severity at first clinical presentation: The role of endotypes and mechanistic signaturesArjun Baghela, Olga M Pena, Amy H Lee, et al.
Communications Biology|March 11, 2026
Cardiometabolic adaptations in the cave nectar bat Eonycteris spelaeaFan Yu, Akshamal M Gamage, Myu Mai Ja Kp, et al.
Physical Review Letters|August 8, 2009
Single-shot diffractive imaging with a table-top femtosecond soft x-ray laser-harmonics sourceA Ravasio, D Gauthier, F R N C Maia, et al.
Neuromuscular Disorders : NMD|February 17, 2019
Safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of the novel enzyme replacement therapy avalglucosidase alfa (neoGAA) in treatment-naïve and alglucosidase alfa-treated patients with late-onset Pompe disease: A phase 1, open-label, multicenter, multinational, ascending dose studyLoren D M Pena, Richard J Barohn, Barry J Byrne, et al.
Pageof 25

Showing results (221-230 of 245) with videos related to

Sort By:
Pageof 25
European Journal of Human Genetics : EJHG|February 20, 2024
Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowthFrederike L Harms, Jessica Erin Rexach, Stephanie Efthymiou, et al.
BMC Health Services Research|August 24, 2018
Characteristics of undiagnosed diseases network applicants: implications for referring providersNicole M Walley, Loren D M Pena, Stephen R Hooper, et al.
Radiation Oncology (London, England)|March 28, 2025
Smoking increases breast toxicity despite adjuvant hypofractionated IMRT in early breast cancerAna A Díaz-Gavela, E Del Cerro, S Sanchez-Garcia, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 16, 2019
Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe diseasePriya S Kishnani, James B Gibson, Michael J Gambello, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 23, 2018
Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective studySi Houn Hahn, David Kronn, Nancy D Leslie, et al.
Cold Spring Harbor Molecular Case Studies|July 5, 2018
Further evidence for the involvement of <i>EFL1</i> in a Shwachman-Diamond-like syndrome and expansion of the phenotypic featuresQueenie K-G Tan, Heidi Cope, Rebecca C Spillmann, et al.
Ebiomedicine|January 14, 2022
Predicting sepsis severity at first clinical presentation: The role of endotypes and mechanistic signaturesArjun Baghela, Olga M Pena, Amy H Lee, et al.
Communications Biology|March 11, 2026
Cardiometabolic adaptations in the cave nectar bat Eonycteris spelaeaFan Yu, Akshamal M Gamage, Myu Mai Ja Kp, et al.
Physical Review Letters|August 8, 2009
Single-shot diffractive imaging with a table-top femtosecond soft x-ray laser-harmonics sourceA Ravasio, D Gauthier, F R N C Maia, et al.
Neuromuscular Disorders : NMD|February 17, 2019
Safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of the novel enzyme replacement therapy avalglucosidase alfa (neoGAA) in treatment-naïve and alglucosidase alfa-treated patients with late-onset Pompe disease: A phase 1, open-label, multicenter, multinational, ascending dose studyLoren D M Pena, Richard J Barohn, Barry J Byrne, et al.
Pageof 25