Irini Manoli - U.S. Department of Health and Human Services

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论文共 143 篇作者统计合作学者相似作者

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Hydroxocobalamin Dose Intensification Improves Ocular, Neurological and Biochemical Outcomes in CBLC Deficiency

Jennifer Sloan,Wadih Zein,Audrey Thurm,Camryn Hall,Carol Van Ryzin,Susan Ferry,Abigael Gebremariam,Jennifer Myles,Laryssa Huryn,Brian Brooks,Irini Manoli,Charles Venditti

MOLECULAR GENETICS AND METABOLISMno. 4 (2024)

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Denise K Liberton,Konstantinia Almpani,Rashmi Mishra,Carol Bassim,Carol Van Ryzin, On Behalf Of The Moebius Syndrome Research Consortium,Bryn D Webb,Ethylin Wang Jabs,Elizabeth C Engle,Francis S Collins,Irini Manoli,Janice S Lee

International Journal of Environmental Research and Public Healthno. 5 (2024): 615

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Intellectual Disability and Autism in Propionic Acidemia: a Biomarker-Behavioral Investigation Implicating Dysregulated Mitochondrial Biology

Oleg A. Shchelochkov,Cristan A. Farmer,Colby Chlebowski,Dee Adedipe,Susan Ferry,Irini Manoli,Alexandra Pass,Samantha McCoy,Carol Van Ryzin,Jennifer Sloan,Audrey Thurm,Charles P. Venditti

Molecular Psychiatrypp.1-8, (2024)

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Severe Heart Failure in a Unique Case of Cobalamin-C-Deficiency Resolved with Lvad Implantation and Subsequent Heart Transplantation

C. Hjalmarsson, C. Backelin,N. Bergh,A. Thoren,J. L. Sloane,I. Manoli,C. Venditti,G. Dellgren

The Journal of Heart and Lung Transplantationno. 4 (2024): S583-S583

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P.25 Diet, Growth, Body Composition and Resting Energy Expenditure in Propionic Acidemia

J. G. Myles, M. Schoenfeld,O. A. Shchelochkov, C. Galarreta-Aima, C. Hall,J. L. Sloan, S. Ferry, C. Van Ryzin, K. Chen,I. Manoli,C. P. Venditti

MOLECULAR GENETICS AND METABOLISM（2024）

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Biomarkers to Predict Disease Progression and Therapeutic Response in Isolated Methylmalonic Acidemia

Irini Manoli,Abigael Gebremariam,Samantha McCoy,Alexandra R Pass,Jack Gagné,Camryn Hall,Susan Ferry,Carol Van Ryzin,Jennifer L Sloan,Elisa Sacchetti,Giulio Catesini,Cristiano Rizzo,Diego Martinelli,Marco Spada,Carlo Dionisi-Vici,Charles P Venditti

Journal of inherited metabolic diseaseno. 4 (2023): 554-572

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Inability to Move One's Face Dampens Facial Expression Perception

Shruti Japee, Jessica Jordan, Judith Licht,Savannah Lokey,Gang Chen,Joseph Snow,Ethylin Wang Jabs,Bryn D. Webb,Elizabeth C. Engle,Irini Manoli,Chris Baker,Leslie G. Ungerleider

CORTEX (2023): 35-49

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Noncoding Variants Alter GATA2 Expression in Rhombomere 4 Motor Neurons and Cause Dominant Hereditary Congenital Facial Paresis

Alan P. Tenney,Silvio Alessandro Di Gioia,Bryn D. Webb,Wai-Man Chan,Elke de Boer,Sarah J. Garnai,Brenda J. Barry, Tammy Ray,Michael Kosicki,Caroline D. Robson,Zhongyang Zhang,Thomas E. Collins,Alon Gelber,Brandon M. Pratt,Yuko Fujiwara,Arushi Varshney,Monkol Lek,Peter E. Warburton,Carol Van Ryzin,Tanya J. Lehky,Christopher Zalewski,Kelly A. King,Carmen C. Brewer,Audrey Thurm,Joseph Snow,Flavia M. Facio, Narisu,Lori L. Bonnycastle,Amy Swift,Peter S. Chines,Jessica L. Bell,Suresh Mohan,Mary C. Whitman,Sandra E. Staffieri,James E. Elder,Joseph L. Demer,Alcy Torres,Elza Rachid,Christiane Al-Haddad,Rose-Mary Boustany,David A. Mackey,Angela F. Brady,María Fenollar-Cortés,Melanie Fradin,Tjitske Kleefstra,George W. Padberg,Salmo Raskin,Mario Teruo Sato,Stuart H. Orkin,Stephen C. J. Parker,Tessa A. Hadlock,Lisenka E. L. M. Vissers,Hans van Bokhoven,Ethylin Wang Jabs,Francis S. Collins,Len A. Pennacchio,Irini Manoli,Elizabeth C. Engle

NATURE GENETICSno. 7 (2023): 1149-+

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Inability to move one's face dampens facial expression perception

Shruti Japee, Jessica Jordan, Judith Licht,Savannah Lokey,Moebius Syndrome Research Consortium,Gang Chen,Joseph Snow,Ethylin Wang Jabs,Bryn D Webb,Elizabeth C Engle,Irini Manoli,Chris Baker,Leslie G Ungerleider

Cortex; a journal devoted to the study of the nervous system and behavior (2023): 35-49

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