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von Silva, Dina Buitrago ; Trinidad, Marena ; Ljungdahl, Alicia ; et al.
In The American Journal of Human Genetics 6 June 2024 111(6):1222-1238
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von Zippin, Jonathan Hale ; He, Steven ; Wang, Jenny Z. ; et al.
Atlas of Dermatology, Dermatopathology and Venereology : Inflammatory Dermatoses. :1171-1203
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von Desai, Purnahamsi V. ; Howell, Heather B. ; McGrath, Meaghan ; et al.
In Academic Pediatrics March 2023 23(2):483-488
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von N Sumru Bayin ; Aram S Modrek ; August Dietrich ; et al.
PLoS ONE, Vol 9, Iss 12, p e116114 (2014)
Schlagworte: Medicine; Science
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von Marena Trinidad ; Xinying Hong ; Steven Froelich ; et al.
Genome Biology, Vol 24, Iss 1, Pp 1-35 (2023)
Schlagworte: Metachromatic leukodystrophy; Genotype–phenotype relationship; Newborn screening; Mass spectrometry; Phenotype; Mutation; Biology (General); QH301-705.5; Genetics; QH426-470
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von Magat, Jenna ; Jones, Samantha ; Baridon, Brian ; et al.
In Journal of Biological Chemistry December 2022 298(12)
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von Luu, Amanda R. ; Wong, Cara ; Agrawal, Vishal ; et al.
In Journal of Biological Chemistry 25 September 2020 295(39):13556-13569
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von Chen, Joseph C. ; Luu, Amanda R. ; Wise, Nathan ; et al.
In Journal of Biological Chemistry 25 September 2020 295(39):13532-13555
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von Lederer, Eleanor ; Lebowitz, Jonathan
In Advances in Chronic Kidney Disease July 2020 27(4):281-290
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von Lawrence, Roger ; Van Vleet, Jeremy L. ; Mangini, Linley ; et al.
In Molecular Genetics and Metabolism Reports December 2019 21
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von Prill, Heather ; Luu, Amanda ; Yip, Bryan ; et al.
In Molecular Therapy - Methods & Clinical Development 13 September 2019 14:56-63
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von Estrada, Karol ; Froelich, Steven ; Wuster, Arthur ; et al.
Nature Communications. 12(1)
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von Aoyagi-Scharber, Mika ; Crippen-Harmon, Danielle ; Lawrence, Roger ; et al.
In Molecular Therapy - Methods & Clinical Development 15 September 2017 6:43-53
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von Grover, Anita ; Crippen-Harmon, Danielle ; Nave, Lacey ; et al.
Drug Delivery and Translational Research: An Official Journal of the Controlled Release Society. 10(2):425-439
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von Yogalingam, Gouri ; Lee, Amanda R. ; Mackenzie, Donald S. ; et al.
In Journal of Biological Chemistry 10 March 2017 292(10):4255-4265
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von Mann, David M. ; Fernandez, Sonalis ; Mondal, Zahidul ; et al.
In The American Journal of Cardiology 1 September 2016 118(5):679-683
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von Lebowitz, Jonathan ; Porto, Ariel ; Clarke, Christine Nguyen ; et al.
In Journal of Adolescent Health December 2024 75(6):985-987
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von Danielle O. Sambo ; Min Lin ; Anthony Owens ; et al.
Nature Communications, Vol 8, Iss 1, Pp 1-18 (2017)
Schlagworte: Science
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von Silva, Dina ; Silva, Dina ; Trinidad, Marena ; et al.
American Journal of Human Genetics; vol 111, iss 6
Schlagworte: GABA uptake; GAT-1; GAT1; SLC6A1; autism spectrum disorders; epilepsy with myoclonic-atonic seizures; missense vulnerability; neurodevelopmental delay; Humans; GABA Plasma Membrane Transport Proteins; Haploinsufficiency; Mutation; Missense; gamma-Aminobutyric Acid; Neurodevelopmental Disorders; Developmental Disabilities; Autistic Disorder; HEK293 Cells; article
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von Pieloch, Daniel ; Dombrovskiy, Viktor ; Osband, Adena J. ; et al.
In Journal of Renal Nutrition January 2014 24(1):50-57
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von Maga, John A. ; Zhou, Jianghong ; Kambampati, Ravi ; et al.
In Journal of Biological Chemistry 18 January 2013 288(3):1428-1438
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