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American Journal of Medical Genetics. Part A|February 9, 2021
Characterizing upper limb function in the context of activities of daily living in CLN3 diseaseHanna Hildenbrand, Jordan Wickstrom, Rebecca Parks, et al.
American Journal of Medical Genetics. Part A|June 5, 2021
Adult diagnosis of congenital serine biosynthesis defect: A treatable cause of progressive neuropathySarah Debs, Carlos R Ferreira, Catherine Groden, et al.
Neurology(R) Neuroimmunology & Neuroinflammation|September 10, 2025
Complement Factor I Deficiency With Acute Hemorrhagic Leukoencephalitis and Longitudinally Extensive Transverse Myelitis: A Case ReportTiffany Hu, Javier Rodriguez, Lara L Zimmermann, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 3, 2014
The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experienceLauren Lawrence, Murat Sincan, Thomas Markello, et al.
Molecular Genetics and Metabolism|August 20, 2021
Functional analysis of a de novo variant in the neurodevelopment and generalized epilepsy disease gene NBEAThomas Boulin, Omar Itani, Sonia El Mouridi, et al.
American Journal of Medical Genetics. Part A|October 21, 2017
Defective ciliogenesis in INPP5E-related Joubert syndromeIsabel Hardee, Ariane Soldatos, Mariska Davids, et al.
American Journal of Medical Genetics. Part A|November 15, 2017
Cover Image, Volume 173A, Number 12, December 2017Isabel Hardee, Ariane Soldatos, Mariska Davids, et al.
Frontiers in Immunology|March 6, 2023
Case report: Discovery of a <i>de novo FAM111B</i> pathogenic variant in a patient with an APECED-like clinical phenotypeElise M N Ferré, Yunting Yu, Vasileios Oikonomou, et al.
Molecular Genetics and Metabolism|October 26, 2023
Risks and benefits of anesthesia for combined pediatric procedures in the NIH undiagnosed diseases programEllen F Macnamara, Amelia Loydpierson, Yvonne L Latour, et al.
Nature Reviews. Neurology|June 22, 2018
Neuroimmune disorders of the central nervous system in children in the molecular eraElizabeth Wells, Yael Hacohen, Amy Waldman, et al.
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